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+ Genes 248

Genes:
AARS2, ABCA12, ABCA5, ABCA7, ABCB4, ABCC5, AC096644.1, ACSF2, ADAM15, ADCK5, AGAP1, AIM1L, ANAPC1, ANKRD36, ANKRD36C, ANO7, ANXA9, AP5Z1, AQPEP, ARHGAP26, ARID4B, ARMC3, ASIC5, ATP11A, ATP12A, ATP8B1, ATP8B3, B3GALTL, BIN3, C10orf53, C17orf49, C20orf96, C21orf2, CABP5, CACNA2D3, CAND2, CAPN2, CBWD1, CCDC144A, CCDC144NL, CCDC38, CCDC68, CCDC88C, CD99, CDH17, CELA3B, CEP290, CEP89, CLEC18B, CLEC2D, CNOT6, COG3, COG5, COL16A1, COL26A1, COL4A4, COL5A1, COL5A3, COPE, CREBRF, CSMD1, CYP11B1, DBH, DGKA, DLG5, DNASE2B, DNMT3B, DSP, DTX4, DYSF, EDIL3, EHMT1, EHMT2, EIF4B, ERGIC3, FAM126A, FAM182B, FAM198A, FAM19A5, FAM3B, FANCD2, FCRLB, FICD, FKBP2, FMNL2, FRG1, FRG1B, GAB4, GALC, GAREML, GCOM1, GDPD2, GEMIN5, GGA2, GIPC1, GLTPD2, GPATCH1, GPR75-ASB3, GRAMD1A, GRID1, GRIK4, HABP4, HEATR1, HEATR4, HEG1, HLA-A, HLA-B, HLA-C, HLA-DRB5, HPS5, HTRA4, INPP4B, IRGQ, ITGA11, ITGA2B, ITGA5, ITPR1, KALRN, KCNIP4, KCNMA1, KIAA1549L, KIAA1731, KRT6A, KRT72, KRT75, LENG8, LGI4, LHFPL3, LIG1, LL22NC03-75H12.2, LMNA, LPHN3, LRP1, LRP1B, LRPAP1, LRRC16A, LSG1, LTBP4, MALRD1, MAT2B, MCTP1, MEF2A, MGAM, MLC1, MLF1, MROH2A, MRPL30, MS4A7, MUC12, MUC16, MYH11, MYH13, MYO1B, NAV2, NAV3, NCAPD2, NCAPG, NCKAP1, NDNF, NEK10, NELFCD, NEURL4, NID2, NLRP13, NTPCR, NUP85, NUP88, NUTM2B, OC90, ODF2, OSER1, PARP4, PARVB, PDE4DIP, PDLIM3, PGM5, PIEZO1, PIEZO2, PITRM1, PIWIL4, PKD1L1, PKN2, PLD2, PLD5, PLXNA2, PLXNB2, POLR2A, PRSS50, PSG8, PTK2B, PTPRA, PXDN, PXMP2, QSOX2, RAB44, RAE1, RAP1GAP2, RBM19, RNF212, RP11-80A15.1, RPP21, RPS14, RPTOR, RYR3, SAMM50, SCAF8, SEC14L6, SGCG, SH3YL1, SIRPA, SIRPB1, SLC22A7, SLC35E2, SLC7A11, SLC7A7, SNAPC4, SPEF2, SPTB, SRGAP2, SUPT16H, TEAD1, TEC, TEX14, TLE4, TMED4, TMX1, TNKS2, TNNI2, TOM1, TRBV5-6, TRPM5, TTC40, TTL, TTLL1, UNC5B, USO1, VAV3, VCAN, VEGFB, VPS8, VWF, WDR19, WDR64, XPO7, ZAN, ZC3H11A, ZFAND5, ZNF609,

+ Genes associated with diseases 59

Genes at Omim

AARS2, ABCA12, ABCA5, ABCA7, ABCB4, AP5Z1, ARHGAP26, ATP8B1, CCDC88C, CEP290, COG5, COL4A4, COL5A1, CYP11B1, DBH, DNMT3B, DSP, DYSF, EHMT1, FAM126A, FANCD2, GALC, HLA-A, HLA-B, HLA-C, HPS5, ITGA2B, ITPR1, KALRN, KCNMA1, KRT6A, KRT75, LGI4, LMNA, LRP1, LRPAP1, LTBP4, MEF2A, MLC1, MLF1, MYH11, NCAPD2, NUP85, PIEZO1, PIEZO2, PKD1L1, PXDN, RNF212, RPS14, SGCG, SLC7A7, SPTB, TEAD1, TEC, TEX14, TNNI2, VCAN, VWF, WDR19,
AARS2 Combined oxidative phosphorylation deficiency 8, 614096 (3)
Leukoencephalopathy, progressive, with ovarian failure, 615889 (3)
ABCA12 Ichthyosis, congenital, autosomal recessive 4A, 601277 (3)
Ichthyosis, congenital, autosomal recessive 4B (harlequin), 242500 (3)
ABCA5 ?Hypertrichosis, congenital generalized, with gingival hyperplasia, 135400 (3)
ABCA7 {Alzheimer disease 9, susceptibility to}, 608907 (3)
ABCB4 Gallbladder disease 1, 600803 (3)
Cholestasis, intrahepatic, of pregnancy, 3, 614972 (3)
Cholestasis, progressive familial intrahepatic 3, 602347 (3)
AP5Z1 Spastic paraplegia 48, autosomal recessive, 613647 (3)
ARHGAP26 Leukemia, juvenile myelomonocytic, somatic, 607785 (3)
ATP8B1 Cholestasis, benign recurrent intrahepatic, 243300 (3)
Cholestasis, intrahepatic, of pregnancy, 1, 147480 (3)
Cholestasis, progressive familial intrahepatic 1, 211600 (3)
CCDC88C Hydrocephalus, congenital, 1, 236600 (3)
?Spinocerebellar ataxia 40, 616053 (3)
CEP290 Joubert syndrome 5, 610188 (3)
Leber congenital amaurosis 10, 611755 (3)
Meckel syndrome 4, 611134 (3)
?Bardet-Biedl syndrome 14, 615991 (3)
Senior-Loken syndrome 6, 610189 (3)
COG5 Congenital disorder of glycosylation, type IIi, 613612 (3)
COL4A4 Alport syndrome 2, autosomal recessive, 203780 (3)
Hematuria, familial benign, 141200 (3)
COL5A1 Ehlers-Danlos syndrome, classic type, 1, 130000 (3)
CYP11B1 Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency, 202010 (3)
Aldosteronism, glucocorticoid-remediable, 103900 (3)
DBH Orthostatic hypotension 1, due to DBH deficiency, 223360 (3)
DNMT3B Immunodeficiency-centromeric instability-facial anomalies syndrome 1, 242860 (3)
DSP Arrhythmogenic right ventricular dysplasia 8, 607450 (3)
Cardiomyopathy, dilated, with woolly hair and keratoderma, 605676 (3)
Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, 615821 (3)
Epidermolysis bullosa, lethal acantholytic, 609638 (3)
Keratosis palmoplantaris striata II, 612908 (3)
Skin fragility-woolly hair syndrome, 607655 (3)
DYSF Miyoshi muscular dystrophy 1, 254130 (3)
Muscular dystrophy, limb-girdle, autosomal recessive 2, 253601 (3)
Myopathy, distal, with anterior tibial onset, 606768 (3)
EHMT1 Kleefstra syndrome 1, 610253 (3)
FAM126A Leukodystrophy, hypomyelinating, 5, 610532 (3)
FANCD2 Fanconi anemia, complementation group D2, 227646 (3)
GALC Krabbe disease, 245200 (3)
HLA-A {Hypersensitivity syndrome, carbamazepine-induced, susceptibility to}, 608579 (3)
HLA-B {Spondyloarthropathy, susceptibility to, 1}, 106300 (3)
{Stevens-Johnson syndrome, susceptibility to}, 608579 (3)
{Synovitis, chronic, susceptibility to} (3)
{Toxic epidermal necrolysis, susceptibility to}, 608579 (3)
{Abacavir hypersensitivity, susceptibility to} (3)
{Drug-induced liver injury due to flucloxacillin} (3)
HLA-C {HIV-1 viremia, susceptibility to}, 609423 (3)
{Psoriasis susceptibility 1}, 177900 (3)
HPS5 Hermansky-Pudlak syndrome 5, 614074 (3)
ITGA2B Glanzmann thrombasthenia, 273800 (3)
Bleeding disorder, platelet-type, 16, autosomal dominant, 187800 (3)
Thrombocytopenia, neonatal alloimmune, BAK antigen related (3)
ITPR1 Gillespie syndrome, 206700 (3)
Spinocerebellar ataxia 15, 606658 (3)
Spinocerebellar ataxia 29, congenital nonprogressive, 117360 (3)
KALRN {Coronary heart disease, susceptibility to, 5}, 608901 (3)
KCNMA1 Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy, 609446 (3)
?Cerebellar atrophy, developmental delay, and seizures, 617643 (3)
KRT6A Pachyonychia congenita 3, 615726 (3)
KRT75 {Pseudofolliculitis barbae, susceptibility to}, 612318 (3)
LGI4 Arthrogryposis multiplex congenita, neurogenic, with myelin defect, 617468 (3)
LMNA Cardiomyopathy, dilated, 1A, 115200 (3)
Heart-hand syndrome, Slovenian type, 610140 (3)
Charcot-Marie-Tooth disease, type 2B1, 605588 (3)
Hutchinson-Gilford progeria, 176670 (3)
Lipodystrophy, familial partial, type 2, 151660 (3)
Emery-Dreifuss muscular dystrophy 2, autosomal dominant, 181350 (3)
Emery-Dreifuss muscular dystrophy 3, autosomal recessive, 616516 (3)
Malouf syndrome, 212112 (3)
Mandibuloacral dysplasia, 248370 (3)
Muscular dystrophy, congenital, 613205 (3)
Restrictive dermopathy, lethal, 275210 (3)
LRP1 ?Keratosis pilaris atrophicans, 604093 (3)
LRPAP1 Myopia 23, autosomal recessive, 615431 (3)
LTBP4 Cutis laxa, autosomal recessive, type IC, 613177 (3)
MEF2A {Coronary artery disease, autosomal dominant, 1}, 608320 (3)
MLC1 Megalencephalic leukoencephalopathy with subcortical cysts, 604004 (3)
MLF1 Leukemia, acute myeloid, 601626 (1)
MYH11 Aortic aneurysm, familial thoracic 4, 132900 (3)
NCAPD2 ?Microcephaly 21, primary, autosomal recessive, 617983 (3)
NUP85 Nephrotic syndrome, type 17, 618176 (3)
PIEZO1 Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, 194380 (3)
Lymphatic malformation 6, 616843 (3)
PIEZO2 Arthrogryposis, distal, type 3, 114300 (3)
Arthrogryposis, distal, type 5, 108145 (3)
Arthrogryposis, distal, with impaired proprioception and touch, 617146 (3)
?Marden-Walker syndrome, 248700 (3)
PKD1L1 Heterotaxy, visceral, 8, autosomal, 617205 (3)
PXDN Anterior segment dysgenesis 7, with sclerocornea, 269400 (3)
RNF212 Recombination rate QTL 1, 612042 (3)
RPS14 Macrocytic anemia, refractory, due to 5q deletion, somatic, 153550 (3)
SGCG Muscular dystrophy, limb-girdle, autosomal recessive 5, 253700 (3)
SLC7A7 Lysinuric protein intolerance, 222700 (3)
SPTB Anemia, neonatal hemolytic, fatal or near-fatal, 617948 (3)
Elliptocytosis-3, 617948 (3)
Spherocytosis, type 2, 616649 (3)
TEAD1 Sveinsson chorioretinal atrophy, 108985 (3)
TEC Transient erythroblastopenia of childhood (2)
TEX14 ?Spermatogenic failure 23, 617707 (3)
TNNI2 Arthrogryposis multiplex congenita, distal, type 2B, 601680 (3)
VCAN Wagner syndrome 1, 143200 (3)
VWF von Willebrand disease, type 1, 193400 (3)
von Willebrand disease, types 2A, 2B, 2M, and 2N, 613554 (3)
von Willibrand disease, type 3, 277480 (3)
WDR19 Nephronophthisis 13, 614377 (3)
?Cranioectodermal dysplasia 4, 614378 (3)
?Short-rib thoracic dysplasia 5 with or without polydactyly, 614376 (3)
Senior-Loken syndrome 8, 616307 (3)

Genes at Clinical Genomics Database

AARS2, ABCA12, ABCA5, ABCB4, AP5Z1, ATP8B1, CCDC88C, CEP290, COG5, COL4A4, COL5A1, CYP11B1, DBH, DNMT3B, DSP, DYSF, EHMT1, FAM126A, FANCD2, GALC, GRIK4, HLA-A, HLA-B, HPS5, ITGA2B, ITPR1, KCNMA1, KRT6A, KRT75, LMNA, LRP1, LRPAP1, LTBP4, MLC1, MYH11, PIEZO1, PIEZO2, PXDN, SGCG, SLC7A7, SPTB, TEAD1, TNNI2, VCAN, VWF, WDR19,
AARS2 Leukoencephalopathy, progressive, with ovarian failure
ABCA12 Ichthyosis, harlequin
Ichthyosis, lamellar, type 2
ABCA5 Hypertrichosis terminalis, generalized, with or without gingival hyperplasia
ABCB4 Cholestasis, progressive familial intrahepatic 3
Low phospholipid-associated cholelithiasis 1
Cholestasis, oral contraceptives induced
Cholestasis, familial intrahepatic, of pregnancy
Gallbladder disease 1
AP5Z1 Spastic paraplegia 48, autosomal recessive
ATP8B1 Familial intrahepatic cholestasis, recurrent
Cholestasis, progressive familial intrahepatic 1
Intrahepatic cholestasis of pregnancy
CCDC88C Spinocerebellar ataxia 40
CEP290 Leber congenital amaurosis 10
Meckel syndrome 4
Senior-Loken syndrome 6
Joubert syndrome 5
Bardet-Biedl syndrome 14
COG5 Congenital disorder of glycosylation, type IIi
COL4A4 Alport syndrome, autosomal recessive
COL5A1 Ehlers-Danlos syndrome, type I
Ehlers-Danlos syndrome, type II
CYP11B1 Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency
Glucocorticoid-remediable aldosteronism
DBH Dopamine beta-hydroxylase deficiency
DNMT3B Immunodeficiency-centromeric instability-facial anomalies syndrome 1
DSP Arrhythmogenic right ventricular dysplasia, familial 8
Cardiomyopathy, dilated, with wooly hair and keratoderma
Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis
DYSF Miyoshi muscular dystrophy 1
Muscular dystrophy, limb-girdle, type 2B
Myopathy, distal, with anterior tibial onset
EHMT1 Kleefstra syndrome
FAM126A Leukodystrophy, hypomyelinating, 5
FANCD2 Fanconi anemia, complementation group D2
GALC Krabbe disease
GRIK4 Response to antidepressant treatment with citalopram
HLA-A Drug-induced toxicity, susceptibility to
HLA-B Drug-induced toxicity, susceptibility to
HPS5 Hermansky-Pudlak syndrome 5
ITGA2B Glanzmann thrombasthenia
ITPR1 Spinocerebellar ataxia 15
Spinocerebellar ataxia 29
KCNMA1 Generalized epilepsy and paroxysmal dyskinesia
KRT6A Pachyonychia congenita 3
KRT75 Pseudofolliculitis barbae
LMNA Cardiomyopathy, dilated, 1A
Heart-hand syndrome, Slovenian type
Emery-Dreiffus muscular dystrophy, autosomal dominant
Emery-Dreiffus muscular dystrophy 3, autosomal recessive
Muscular dystrophy, congenital, LMNA-related
Limb-girdle muscular dystrophy type 1B
Malouf syndrome
Lipodystrophy, familial partial, 2 (Dunnigan type)
LRP1 Schizophrenia
LRPAP1 Myopia 23, autosomal recessive
LTBP4 Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities
MLC1 Megalencephalic leukoencephalopathy with subcortical cysts
MYH11 Aortic aneurysm, familial thoracic 4
PIEZO1 Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema
PIEZO2 Distal arthrogryposis type 3
Distal arthrogryposis type 5
Marden-Walker syndrome
PXDN Corneal opacification with other ocular anomalies
SGCG Muscular dystrophy, limb-girdle, type 2C
SLC7A7 Lysinuric protein intolerance
SPTB Spherocytosis, type 2
Ellipsocytosis, type 3
Anemia, neonatal hemolytic
TEAD1 Sveinsson choreoretinal atrophy
TNNI2 Arthrogryposis multiplex congenita, distal, type 2B
VCAN Wagner syndrome 1
VWF von Willebrand disease, type 1
von Willebrand disease, type 2A
von Willebrand disease, type 3
WDR19 Short-rib thoracic dysplasia 5 with or without polydactyly
Cranioectodermal dysplasia 4
Nephronophthisis 13
Retinitis pigmentosa
Senior-Loken syndrome 8

Genes at HGMD

Summary

Number of Variants: 255
Number of Genes: 248

Export to: CSV

AARS2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_61.variant23 6 rs78525157
dbSNP Clinvar 		44272382 731.54 C T PASS 0/1 96 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.01338 0.01338 0.00508 None None None None None None TMEM151B|0.178433912|39.22%,AARS2|0.089485788|53.33%

ABCA12
Omim - GeneCards - NCBI
Options Individual Chr
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_61.variant23 2 rs10198064
dbSNP Clinvar 		215876371 1260.75 T C PASS 0/1 81 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.27935 0.27940 0.26342 None None None None None None ABCA12|0.403146751|20.59%

ABCA5
Omim - GeneCards - NCBI
Options Individual Chr
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_61.variant23 17 rs57367176
dbSNP Clinvar 		67287358 604.13 A G PASS 0/1 31 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.03215 0.03215 0.02976 None None None None None None ABCA5|0.269145961|29.93%

ABCA7
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_61.variant23 19 rs881768
dbSNP Clinvar 		1056065 1279.73 A G PASS 1/1 88 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.44209 0.44210 0.45937 None None None None None None ABCA7|0.007770288|82.8%

ABCB4
Omim - GeneCards - NCBI
Options Individual Chr
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_61.variant23 7 rs2109505
dbSNP Clinvar 		87079406 1387.9 T A PASS 0/1 106 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.26138 0.26140 0.22490 None None None None None None ABCB4|0.238504845|32.55%

ABCC5
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_61.variant23 3 rs7636910
dbSNP Clinvar 		183699516 494.71 T C PASS 0/1 55 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.33427 0.33430 0.34194 None None None None None None ABCC5|0.264803016|30.31%

AC096644.1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_61.variant23 1 rs1361256
dbSNP Clinvar 		220607685 1654.53 G A PASS 1/1 64 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.81010 0.81010 None None None None None None None

ACSF2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_61.variant23 17 rs2305998
dbSNP Clinvar 		48549791 739.41 C G PASS 0/1 59 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.18570 0.18570 0.24427 None None None None None None ACSF2|0.036236332|67.04%

ADAM15
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_61.variant23 1 rs11589479
dbSNP Clinvar 		155033308 3723.62 G A PASS 1/1 79 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.07508 0.07508 0.12279 None None None None None None ADAM15|0.077192579|55.85%

ADCK5
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_61.variant23 8 rs7843675
dbSNP Clinvar 		145617910 2699.0 A G PASS 0/1 166 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.11821 0.11820 0.14409 None None None None None None ADCK5|0.009712798|81.05%

AGAP1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_61.variant23 2 rs2292708
dbSNP Clinvar 		236708166 1684.66 C T PASS 0/1 179 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.19169 0.19170 0.21506 None None None None None None AGAP1|0.457547319|17.79%

AIM1L
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_61.variant23 1 rs11247919
dbSNP Clinvar 		26664968 1004.89 C T PASS 0/1 94 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.28614 0.28610 0.42081 None None None None None None AIM1L|0.109158012|49.38%

ANAPC1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_61.variant23 2 rs4848197
dbSNP Clinvar 		112605302 270.87 C T PASS 0/1 15 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.56250 0.56250 None None None None None None ANAPC1|0.14646446|43.53%

ANKRD36
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_61.variant23 2 rs5008284
dbSNP Clinvar 		97833342 546.62 G A PASS 0/1 84 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None None None None None None None ANKRD36|0.001192347|94.46%

ANKRD36C
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_61.variant23 2 rs62153754
dbSNP Clinvar 		96601364 556.89 C T PASS 0/1 92 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.00 0.52 None None None None None None ANKRD36C|0.001406745|93.3%

ANO7
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_61.variant23 2 rs2074840
dbSNP Clinvar 		242141719 1932.98 C T PASS 0/1 78 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.41474 0.41470 0.36491 None None None None None None ANO7|0.004152604|86.8%

ANXA9
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_61.variant23 1 rs7532008
dbSNP Clinvar 		150960350 511.02 A C PASS 0/1 67 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.49181 0.49180 0.35315 None None None None None None ANXA9|0.051149554|62.29%

AP5Z1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_61.variant23 7 rs11768079
dbSNP Clinvar 		4825314 3214.98 C T PASS 0/1 83 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.07169 0.07169 0.04830 None None None None None None AP5Z1|0.016673103|76.1%

AQPEP
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_61.variant23 5 rs10078748
dbSNP Clinvar 		115341611 3480.76 G T PASS 1/1 82 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.77676 0.77680 0.18315 None None None None None None None

ARHGAP26
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_61.variant23 5 rs258819
dbSNP Clinvar 		142593652 586.73 C T PASS 1/1 25 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.99641 0.99640 0.00377 None None None None None None ARHGAP26|0.689373516|8.81%

ARID4B
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_61.variant23 1 rs12731746
dbSNP Clinvar 		235392546 1212.75 T C PASS 1/1 47 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.44868 0.44870 0.46463 None None None None None None ARID4B|0.332554915|25.29%

ARMC3
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_61.variant23 10 rs11817610
dbSNP Clinvar 		23297301 754.05 C T PASS 0/1 92 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.50000 0.50000 0.47916 None None None None None None ARMC3|0.037067211|66.75%

ASIC5
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_61.variant23 4 rs6848883
dbSNP Clinvar 		156787340 4583.3 G A PASS 1/1 129 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.84844 0.84840 0.16333 None None None None None None ASIC5|0.031479338|68.79%,TDO2|0.067292674|58.09%

ATP11A
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_61.variant23 13 rs1290177
dbSNP Clinvar 		113536132 2197.72 T C PASS 1/1 100 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.56490 0.56490 0.46179 None None None None None None ATP11A|0.13314168|45.42%

ATP12A
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_61.variant23 13 rs7981616
dbSNP Clinvar 		25265103 1115.52 A G PASS 0/1 106 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.29533 0.29530 0.20437 None None None None None None ATP12A|0.195110246|37.26%

ATP8B1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_61.variant23 18 rs319438
dbSNP Clinvar 		55364852 1298.94 A G PASS 1/1 44 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.99461 0.99460 0.00692 None None None None None None ATP8B1|0.161108429|41.4%

ATP8B3
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_61.variant23 19 rs3764606
dbSNP Clinvar 		1784944 604.02 A G PASS 0/1 52 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.42951 0.42950 0.47849 None None None None None None ATP8B3|0.003576519|87.64%

B3GALTL
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_61.variant23 13 rs4943266
dbSNP Clinvar 		31821992 1879.73 T C PASS 1/1 35 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.97544 0.97540 0.03601 None None None None None None B3GALTL|0.110722838|49.06%

BIN3
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_61.variant23 8 rs11550509
dbSNP Clinvar 		22526559 1627.74 G A PASS 0/1 136 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.09884 0.09884 0.18878 None None None None None None BIN3|0.312765796|26.64%

C10orf53
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_61.variant23 10 rs1133837
dbSNP Clinvar 		50901938 2255.68 C T PASS 0/1 65 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.35304 0.35300 0.44049 None None None None None None C10orf53|0.004766771|86.14%

C17orf49
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_61.variant23 17 rs14309
dbSNP Clinvar 		6919093 1020.16 T C PASS 0/1 94 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.75739 0.75740 0.22774 None None None None None None RNASEK-C17orf49|0.371919774|22.61%,C17orf49|0.341426499|24.73%

C20orf96
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_61.variant23 20 rs7271033
dbSNP Clinvar 		259969 5472.4 G C PASS 1/1 237 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.66853 0.66850 0.36299 None None None None None None C20orf96|0.00266282|89.34%

C21orf2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_61.variant23 21 rs2070573
dbSNP Clinvar 		45750346 4594.66 C A PASS 0/1 276 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.26398 0.26400 None None None None None None C21orf2|0.021974871|73.18%

CABP5
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_61.variant23 19 rs8105198
dbSNP Clinvar 		48543862 2557.34 G A PASS 1/1 79 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.78674 0.78670 0.22897 None None None None None None CABP5|0.074903985|56.31%

CACNA2D3
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_61.variant23 3 rs10510774
dbSNP Clinvar 		54919351 1687.38 A G PASS 0/1 100 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.05671 0.05671 0.11308 None None None None None None CACNA2D3|0.956528589|2.05%

CAND2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_61.variant23 3 rs4684883
dbSNP Clinvar 		12861586 708.39 T C PASS 0/1 91 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.14836 0.14840 0.13982 None None None None None None CAND2|0.05381052|61.53%

CAPN2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_61.variant23 1 rs17596
dbSNP Clinvar 		223905532 2095.33 G A PASS 0/1 85 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.59545 0.59540 0.33746 None None None None None None CAPN2|0.174674652|39.7%

CBWD1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_61.variant23 9 . 154795 2395.91 T C PASS 0/1 60 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.78694 0.23615 None None None None None None CBWD1|0.029140848|69.81%

CCDC144A
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_61.variant23 17 rs61179727
dbSNP Clinvar 		16635980 789.16 G A PASS 0/1 41 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.12181 0.12180 0.07438 None None None None None None CCDC144A|0.002171352|90.51%

CCDC144NL
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_61.variant23 17 rs8073465
dbSNP Clinvar 		20798992 3464.43 C T PASS 1/1 235 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.09924 0.09924 0.11110 None None None None None None CCDC144NL|0.000779475|96.79%

CCDC38
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_61.variant23 12 rs2117914
dbSNP Clinvar 		96266035 1415.11 T C PASS 0/1 81 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.14457 0.14460 0.18976 None None None None None None SNRPF|0.684587962|8.96%,CCDC38|0.005707397|84.96%

CCDC68
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_61.variant23 18 rs1344011
dbSNP Clinvar 		52605188 927.02 C T PASS 1/1 22 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.17792 0.17790 0.16800 None None None None None None CCDC68|0.06035994|59.77%

CCDC88C
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_61.variant23 14 rs8017119
dbSNP Clinvar 		91760660 1782.39 C T PASS 0/1 163 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.00619 0.00619 0.01090 None None None None None None CCDC88C|0.052356783|61.96%
View combined sample_61.variant23 14 rs1970912
dbSNP Clinvar 		91773568 1070.69 T C PASS 1/1 157 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.48043 0.48040 0.42060 None None None None None None CCDC88C|0.052356783|61.96%

CD99
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_61.variant23 X rs1136470
dbSNP Clinvar 		2644302 315.32 C T PASS 0/1 21 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.11861 0.11860 0.13033 None None None None None None CD99|0.003192915|88.33%

CDH17
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_61.variant23 8 rs35792427
dbSNP Clinvar 		95161102 1210.9 G A PASS 0/1 115 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.12680 0.12680 0.09995 None None None None None None CDH17|0.034427264|67.65%

CELA3B
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_61.variant23 1 rs1803531
dbSNP Clinvar 		22310824 982.03 T C PASS 1/1 34 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.89317 0.89320 0.05368 None None None None None None CELA3B|0.015617411|76.71%

CEP290
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_61.variant23 12 rs45465996
dbSNP Clinvar 		88505633 800.05 A G PASS 0/1 54 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.06889 0.06889 0.13844 None None None None None None CEP290|0.560411435|13.34%

CEP89
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_61.variant23 19 rs10411735
dbSNP Clinvar 		33444707 2180.75 C T PASS 1/1 61 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.39836 0.39840 0.35007 None None None None None None CEP89|0.007695004|82.86%

CLEC18B
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_61.variant23 16 rs561496829
dbSNP Clinvar 		74444436 72.42 G A DRAGENHardSNP 0/1 40 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.00060 0.00060 None None None None None None CLEC18B|0.011397398|79.7%

CLEC2D
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_61.variant23 12 rs3764021
dbSNP Clinvar 		9833628 1048.02 C T PASS 0/1 95 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.46466 0.46470 0.49831 None None None None None None CLEC2D|0.000737719|97.09%

CNOT6
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_61.variant23 5 rs6877400
dbSNP Clinvar 		179996111 3765.88 C T PASS 1/1 63 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.14647 None None None None None None CNOT6|0.652785136|9.99%

COG3
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_61.variant23 13 rs3014960
dbSNP Clinvar 		46077381 1061.95 G A PASS 1/1 53 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.90336 0.90340 0.09573 None None None None None None COG3|0.283875936|28.81%

COG5
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_61.variant23 7 rs17349904
dbSNP Clinvar 		106897237 576.22 A C PASS 0/1 33 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.12979 0.12980 0.15893 None None None None None None COG5|0.360996774|23.37%

COL16A1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_61.variant23 1 rs2228550
dbSNP Clinvar 		32164206 2865.37 T G PASS 1/1 98 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.62580 0.62580 0.30447 None None None None None None COL16A1|0.160017905|41.54%

COL26A1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_61.variant23 7 rs17135626
dbSNP Clinvar 		101194424 762.58 C T PASS 0/1 53 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.29054 0.29050 0.35818 None None None None None None COL26A1|0.059520302|60.03%

COL4A4
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_61.variant23 2 rs2228556
dbSNP Clinvar 		227892619 843.12 C T PASS 0/1 67 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.49181 0.49180 0.45464 None None None None None None COL4A4|0.099677436|51.24%

COL5A1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_61.variant23 9 rs3827848
dbSNP Clinvar 		137707834 1143.99 G A PASS 0/1 130 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.12979 0.12980 0.14178 None None None None None None COL5A1|0.207487878|35.85%

COL5A3
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_61.variant23 19 rs1559186
dbSNP Clinvar 		10106936 176.69 G C PASS 0/1 24 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.39497 0.39500 0.41921 None None None None None None COL5A3|0.039580114|65.88%

COPE
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_61.variant23 19 rs3177137
dbSNP Clinvar 		19023853 2843.0 T C PASS 1/1 145 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.35004 0.35000 0.44303 None None None None None None COPE|0.199133085|36.81%

CREBRF
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_61.variant23 5 rs1129146
dbSNP Clinvar 		172550204 1157.95 C T PASS 0/1 125 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.15336 0.15340 0.14386 None None None None None None CREBRF|0.460655673|17.64%

CSMD1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_61.variant23 8 rs667859
dbSNP Clinvar 		2820745 951.68 G C PASS 0/1 83 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.43470 0.43470 0.36771 None None None None None None CSMD1|0.119480951|47.53%

CYP11B1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_61.variant23 8 rs7818826
dbSNP Clinvar 		143959250 482.87 T C PASS 0/1 156 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.59105 0.59110 None None None None None None GML|0.000127964|99.9%,CYP11B1|0.016882471|75.94%

DBH
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_61.variant23 9 rs1108580
dbSNP Clinvar 		136505114 1091.31 A G PASS 0/1 98 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.42991 0.42990 0.42680 None None None None None None DBH|0.089974085|53.24%

DGKA
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_61.variant23 12 rs1136082
dbSNP Clinvar 		56335107 2091.5 A G PASS 0/1 159 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.84764 0.84760 0.14663 None None None None None None DGKA|0.088457304|53.54%

DLG5
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_61.variant23 10 rs1248634
dbSNP Clinvar 		79579222 1455.14 G A PASS 0/1 47 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.25539 0.25540 0.22690 None None None None None None DLG5|0.1770919|39.42%

DNASE2B
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_61.variant23 1 rs7511984
dbSNP Clinvar 		84878228 1458.16 C T PASS 0/1 80 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.13558 0.13560 0.18507 None None None None None None DNASE2B|0.074448603|56.42%

DNMT3B
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_61.variant23 20 rs2424922
dbSNP Clinvar 		31386449 1413.18 T C PASS 0/1 89 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.75579 0.75580 0.42227 None None None None None None DNMT3B|0.978021249|1.52%

DSP
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_61.variant23 6 rs1016835
dbSNP Clinvar 		7576527 1940.96 G A PASS 1/1 67 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.73542 0.73540 0.25188 None None None None None None DSP|0.573194355|12.87%

DTX4
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_61.variant23 11 rs12796683
dbSNP Clinvar 		58940278 457.17 G T PASS 0/1 32 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.25200 0.25200 0.19687 None None None None None None DTX4|0.13409479|45.25%

DYSF
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_61.variant23 2 rs2303606
dbSNP Clinvar 		71838597 1397.38 C A PASS 0/1 101 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.44948 0.44950 0.47155 None None None None None None DYSF|0.429167677|19.17%

EDIL3
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_61.variant23 5 rs2269287
dbSNP Clinvar 		83360520 1149.41 C T PASS 0/1 93 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.14497 0.14500 0.11618 None None None None None None EDIL3|0.469631206|17.18%

EHMT1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_61.variant23 9 rs45450992
dbSNP Clinvar 		140648742 229.96 C T PASS 0/1 46 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.05651 0.05651 0.07820 None None None None None None EHMT1|0.048999784|62.96%

EHMT2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_61.variant23 6 rs535586
dbSNP Clinvar 		31860337 1891.17 T C PASS 0/1 164 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.83327 0.83330 0.25190 None None None None None None EHMT2|0.178387468|39.23%

EIF4B
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_61.variant23 12 rs8916
dbSNP Clinvar 		53433486 989.79 C T PASS 1/1 15 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.75379 0.75380 0.19484 None None None None None None EIF4B|0.258261547|30.89%

ERGIC3
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_61.variant23 20 rs8825
dbSNP Clinvar 		34144746 1910.14 A G PASS 0/1 140 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.16074 0.16070 0.14532 None None None None None None ERGIC3|0.237081134|32.69%

FAM126A
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_61.variant23 7 rs3735231
dbSNP Clinvar 		23015831 484.36 T C PASS 0/1 75 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.37480 0.37480 0.34451 None None None None None None FAM126A|0.551018737|13.67%

FAM182B
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_61.variant23 20 rs75063166
dbSNP Clinvar 		25829342 5706.97 T C PASS 0/1 405 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None None None None None None None FAM182B|0.001507273|92.73%

FAM198A
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_61.variant23 3 rs658958
dbSNP Clinvar 		43073761 3580.06 G A PASS 0/1 160 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.43830 0.43830 0.38371 None None None None None None FAM198A|0.022008467|73.15%

FAM19A5
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_61.variant23 22 rs28394186
dbSNP Clinvar 		49246723 332.78 A C PASS 0/1 21 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.49281 0.49280 None None None None None None FAM19A5|0.05030516|62.56%

FAM3B
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_61.variant23 21 rs417708
dbSNP Clinvar 		42717662 1073.83 T C PASS 0/1 24 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.91154 0.91150 0.11256 None None None None None None FAM3B|0.008580766|82.07%

FANCD2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_61.variant23 3 rs72492997
dbSNP Clinvar 		10088266 747.45 G T PASS 0/1 72 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None None None None None None None FANCD2|0.244996414|32.01%

FCRLB
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_61.variant23 1 rs11585450
dbSNP Clinvar 		161696782 1298.61 G C PASS 1/1 62 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.31450 0.31450 0.36719 None None None None None None FCRLB|0.028697664|70.08%

FICD
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_61.variant23 12 rs35664142
dbSNP Clinvar 		108912178 1766.73 G A PASS 0/1 181 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.01138 0.01138 0.02999 None None None None None None FICD|0.050249509|62.6%

FKBP2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_61.variant23 11 rs654573
dbSNP Clinvar 		64011441 2058.91 T C PASS 1/1 71 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.97684 0.97680 0.02039 None None None None None None FKBP2|0.081255498|54.93%

FMNL2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_61.variant23 2 rs4664114
dbSNP Clinvar 		153378459 967.03 T C PASS 1/1 93 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.69070 0.69070 0.34572 None None None None None None FMNL2|0.571016453|12.93%

FRG1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_61.variant23 4 rs75112782
dbSNP Clinvar 		190881992 115.64 T C PASS 0/1 10 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None None None None None None None FRG1|0.098149242|51.5%

FRG1B
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_61.variant23 20 rs371493541
dbSNP Clinvar 		29623254 1081.5 G A PASS 0/1 338 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None None None None None None None FRG1B|0.009509512|81.26%
View combined sample_61.variant23 20 rs80066412
dbSNP Clinvar 		29625984 190.78 T C PASS 0/1 103 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None None None None None None None FRG1B|0.009509512|81.26%

GAB4
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_61.variant23 22 rs4819925
dbSNP Clinvar 		17446991 124.45 C T PASS 0/1 17 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.82528 0.82530 0.18408 None None None None None None GAB4|0.003932508|87.14%

GALC
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_61.variant23 14 rs11552556
dbSNP Clinvar 		88452945 1007.38 G A PASS 0/1 69 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.01438 0.01438 0.03081 None None None None None None GALC|0.120631717|47.35%

GAREML
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_61.variant23 2 rs4665830
dbSNP Clinvar 		26399214 472.82 G A PASS 0/1 126 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.81170 0.81170 0.26456 None None None None None None GAREML|0.097511197|51.62%

GCOM1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_61.variant23 15 rs2958059
dbSNP Clinvar 		57918090 2394.88 A G PASS 1/1 88 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 1.00000 1.00000 None None None None None None GCOM1|0.172662114|39.98%,MYZAP|0.150722079|42.86%,POLR2M|0.038007903|66.46%

GDPD2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_61.variant23 X rs2296542
dbSNP Clinvar 		69652762 1806.85 A G PASS 1/1 64 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.85192 0.85190 0.17012 None None None None None None GDPD2|0.107206407|49.75%

GEMIN5
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_61.variant23 5 rs816736
dbSNP Clinvar 		154271948 4731.57 G A PASS 1/1 183 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.95148 0.95150 0.04767 None None None None None None GEMIN5|0.180064442|39.04%

GGA2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_61.variant23 16 rs1071685
dbSNP Clinvar 		23521643 2559.52 G C PASS 1/1 93 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.69090 0.69090 None None None None None None GGA2|0.075311277|56.21%

GIPC1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_61.variant23 19 rs1127307
dbSNP Clinvar 		14589378 1933.51 C T PASS 1/1 211 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.24820 0.24820 0.22851 None None None None None None GIPC1|0.183215507|38.63%

GLTPD2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_61.variant23 17 rs12951761
dbSNP Clinvar 		4693054 3416.63 G A PASS 0/1 209 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.51258 0.51260 0.44769 None None None None None None GLTPD2|0.006085441|84.48%

GPATCH1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_61.variant23 19 rs2287681
dbSNP Clinvar 		33608733 1192.12 C A PASS 0/1 83 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.36142 0.36140 0.25050 None None None None None None GPATCH1|0.063745069|58.94%

GPR75-ASB3
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_61.variant23 2 rs17521008
dbSNP Clinvar 		53955850 929.87 C T PASS 0/1 54 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.17173 0.17170 0.16600 None None None None None None GPR75-ASB3|0.248792517|31.63%