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Genes:
ABCA7, ABCB4, ABCC5, ADAL, ADCY8, ANAPC1, ANKRD36, ANKRD36C, ANXA9, AQPEP, ARHGAP17, ARHGEF16, ARID4B, ASGR2, ASIC5, ATF1, ATP11A, ATP6V0A2, ATP8B1, B3GALTL, BAIAP2L1, C10orf107, C10orf53, C17orf49, C20orf96, C6orf89, C7orf63, CABP5, CAST, CBWD1, CCDC144A, CCDC144NL, CCDC88C, CCND1, CCND2, CDH17, CELA3B, CEP89, CHAF1A, CNOT6, COG3, COL15A1, COL16A1, COL4A4, COL5A3, CSF1, CSMD1, CUL1, CYB5A, CYP11B1, DENND3, DGKA, DNAH8, DNMT3B, DYSF, EDNRA, EIF4B, ELMSAN1, ENTPD2, ERGIC3, FAF1, FAM126A, FAM182B, FANCD2, FIGLA, FKBP2, FMNL2, GAB4, GABRP, GALP, GAREML, GCOM1, GEMIN5, GFER, GIPC1, GLTPD2, GRAMD1A, GRIK4, HCLS1, HEATR1, HEATR4, HEG1, HTRA4, IRAK1BP1, ITGA4, ITGA5, ITPR1, KALRN, KIAA1731, KLK3, KRT6A, KRT75, KRT84, LRP1, LRP1B, LRRC16A, LRRC39, LSG1, LTBP4, MALRD1, MAST1, MBD4, MCOLN1, MDH2, MEF2A, MGAM, MLF1, MRO, MROH2A, MRPL21, MRPL30, MUC16, MUC2, MYH13, MYO1B, MYOM1, NAV2, NCAPD2, NCAPG, NCKAP1, NDNF, NEB, NEK10, NEURL4, NID2, NLRP13, NLRP5, NMS, NPC1, NRCAM, NUP85, NUP88, NUTM2B, ODF2, OSER1, PARVB, PDLIM3, PGS1, PIH1D1, PITRM1, PIWIL4, PKD1L1, PKN2, PLXNA2, PLXNB2, POLR2A, PPIH, PPP1R9B, PPP4R2, PRIM2, PRKCSH, PRKDC, PROM1, PRRC1, PTK2B, PTPRA, PXDN, RAP1GAP2, REC8, RIC3, RNF212, RPAIN, RPS14, RYR1, RYR3, SEC16B, SERPINB11, SGCG, SLC12A2, SLC12A7, SLC14A1, SLC38A9, SLC7A11, SLC7A7, SMCO2, SNAPC4, SORBS1, SPERT, SPTB, SRFBP1, SRGAP2, STRC, SUPT16H, TEAD1, TEC, TLE4, TMED4, TMX1, TNKS2, TTC3, UQCRC2, USO1, USP14, USP33, VAV3, VCAN, VPS37A, VPS8, VWF, WASH4P, WDR62, WNK2, XPO5, ZC3H11A, ZFAND5, ZNF384, ZNF419, ZNF609, ZNF720,

Genes at Omim

ABCA7, ABCB4, ATP6V0A2, ATP8B1, CAST, CCDC88C, CCND1, CCND2, COL4A4, CYB5A, CYP11B1, DNMT3B, DYSF, EDNRA, FAM126A, FANCD2, FIGLA, GFER, ITPR1, KALRN, KRT6A, KRT75, LRP1, LTBP4, MAST1, MCOLN1, MDH2, MEF2A, MLF1, NCAPD2, NEB, NPC1, NPC1, NUP85, PKD1L1, PRKCSH, PRKDC, PROM1, PXDN, RNF212, RPS14, RYR1, SGCG, SLC14A1, SLC7A7, SPTB, STRC, TEAD1, TEC, UQCRC2, VCAN, VPS37A, VWF, WDR62,
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)
ATP6V0A2 Cutis laxa, autosomal recessive, type IIA, 219200 (3)
Wrinkly skin syndrome, 278250 (3)
ATP8B1 Cholestasis, benign recurrent intrahepatic, 243300 (3)
Cholestasis, intrahepatic, of pregnancy, 1, 147480 (3)
Cholestasis, progressive familial intrahepatic 1, 211600 (3)
CAST Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads, 616295 (3)
CCDC88C Hydrocephalus, congenital, 1, 236600 (3)
?Spinocerebellar ataxia 40, 616053 (3)
CCND1 {Multiple myeloma, susceptibility to}, 254500 (3)
{von Hippel-Lindau syndrome, modifier of}, 193300 (3)
{Colorectal cancer, susceptibility to}, 114500 (3)
CCND2 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3, 615938 (3)
COL4A4 Alport syndrome 2, autosomal recessive, 203780 (3)
Hematuria, familial benign, 141200 (3)
CYB5A Methemoglobinemia and ambiguous genitalia, 250790 (3)
CYP11B1 Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency, 202010 (3)
Aldosteronism, glucocorticoid-remediable, 103900 (3)
DNMT3B Immunodeficiency-centromeric instability-facial anomalies syndrome 1, 242860 (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)
EDNRA {Migraine, resistance to}, 157300 (3)
Mandibulofacial dysostosis with alopecia, 616367 (3)
FAM126A Leukodystrophy, hypomyelinating, 5, 610532 (3)
FANCD2 Fanconi anemia, complementation group D2, 227646 (3)
FIGLA Premature ovarian failure 6, 612310 (3)
GFER Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay, 613076 (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)
KRT6A Pachyonychia congenita 3, 615726 (3)
KRT75 {Pseudofolliculitis barbae, susceptibility to}, 612318 (3)
LRP1 ?Keratosis pilaris atrophicans, 604093 (3)
LTBP4 Cutis laxa, autosomal recessive, type IC, 613177 (3)
MAST1 Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations, 618273 (3)
MCOLN1 Mucolipidosis IV, 252650 (3)
MDH2 Epileptic encephalopathy, early infantile, 51, 617339 (3)
MEF2A {Coronary artery disease, autosomal dominant, 1}, 608320 (3)
MLF1 Leukemia, acute myeloid, 601626 (1)
NCAPD2 ?Microcephaly 21, primary, autosomal recessive, 617983 (3)
NEB Nemaline myopathy 2, autosomal recessive, 256030 (3)
NPC1 Niemann-Pick disease, type C1, 257220 (3)
Niemann-Pick disease, type D, 257220 (3)
NPC1 {Nasopharyngeal carcinoma 1} (2)
NUP85 Nephrotic syndrome, type 17, 618176 (3)
PKD1L1 Heterotaxy, visceral, 8, autosomal, 617205 (3)
PRKCSH Polycystic liver disease 1, 174050 (3)
PRKDC Immunodeficiency 26, with or without neurologic abnormalities, 615966 (3)
PROM1 Cone-rod dystrophy 12, 612657 (3)
Macular dystrophy, retinal, 2, 608051 (3)
Retinitis pigmentosa 41, 612095 (3)
Stargardt disease 4, 603786 (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)
RYR1 Central core disease, 117000 (3)
{Malignant hyperthermia susceptibility 1}, 145600 (3)
King-Denborough syndrome, 145600 (3)
Minicore myopathy with external ophthalmoplegia, 255320 (3)
Neuromuscular disease, congenital, with uniform type 1 fiber, 117000 (3)
SGCG Muscular dystrophy, limb-girdle, autosomal recessive 5, 253700 (3)
SLC14A1 [Blood group, Kidd], 111000 (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)
STRC Deafness, autosomal recessive 16, 603720 (3)
TEAD1 Sveinsson chorioretinal atrophy, 108985 (3)
TEC Transient erythroblastopenia of childhood (2)
UQCRC2 Mitochondrial complex III deficiency, nuclear type 5, 615160 (3)
VCAN Wagner syndrome 1, 143200 (3)
VPS37A Spastic paraplegia 53, autosomal recessive, 614898 (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)
WDR62 Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, 604317 (3)

Genes at Clinical Genomics Database

ABCB4, ATP6V0A2, ATP8B1, CAST, CCDC88C, CCND2, COL4A4, CYB5A, CYP11B1, DNMT3B, DYSF, EDNRA, FAM126A, FANCD2, FIGLA, GFER, GRIK4, ITPR1, KRT6A, KRT75, LRP1, LTBP4, MCOLN1, NEB, NPC1, PRKCSH, PRKDC, PROM1, PXDN, RYR1, SGCG, SLC14A1, SLC7A7, SPTB, STRC, TEAD1, UQCRC2, VCAN, VPS37A, VWF, WDR62,
ABCB4 Cholestasis, progressive familial intrahepatic 3
Low phospholipid-associated cholelithiasis 1
Cholestasis, oral contraceptives induced
Cholestasis, familial intrahepatic, of pregnancy
Gallbladder disease 1
ATP6V0A2 Cutis laxa, autosomal recessive, type IIA
Wrinkly skin syndrome
ATP8B1 Familial intrahepatic cholestasis, recurrent
Cholestasis, progressive familial intrahepatic 1
Intrahepatic cholestasis of pregnancy
CAST Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads (PLACK)
CCDC88C Spinocerebellar ataxia 40
CCND2 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome
COL4A4 Alport syndrome, autosomal recessive
CYB5A 46, XY disorder of sex development
Methemoglobinemia, type IV
CYP11B1 Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency
Glucocorticoid-remediable aldosteronism
DNMT3B Immunodeficiency-centromeric instability-facial anomalies syndrome 1
DYSF Miyoshi muscular dystrophy 1
Muscular dystrophy, limb-girdle, type 2B
Myopathy, distal, with anterior tibial onset
EDNRA Mandibulofacial dysostosis with alopecia
FAM126A Leukodystrophy, hypomyelinating, 5
FANCD2 Fanconi anemia, complementation group D2
FIGLA Premature ovarian failure 6
GFER Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay
GRIK4 Response to antidepressant treatment with citalopram
ITPR1 Spinocerebellar ataxia 15
Spinocerebellar ataxia 29
KRT6A Pachyonychia congenita 3
KRT75 Pseudofolliculitis barbae
LRP1 Schizophrenia
LTBP4 Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities
MCOLN1 Mucolipidosis IV
NEB Nemaline myopathy 2
NPC1 Niemann-Pick disease, type C1
Niemann-Pick disease, type D
PRKCSH Polycystic liver disease
PRKDC Immunodeficiency 26 with or without neurologic abnormalities
PROM1 Cone-rod dystrophy 12
Macular dystrophy, retinal, 2
Stargardt disease 4
Retinitis pigmentosa 41
PXDN Corneal opacification with other ocular anomalies
RYR1 Malignant hyperthermia, susceptibility 1
Central core disease
Minicore myopathy
Multicore myopathy
Minicore myopathy with external ophthalmoplegia
Centronuclear myopathy (individuals with these conditions may also be at risk of malignant hyperthermia)
SGCG Muscular dystrophy, limb-girdle, type 2C
SLC14A1 Blood group, Kidd
SLC7A7 Lysinuric protein intolerance
SPTB Spherocytosis, type 2
Ellipsocytosis, type 3
Anemia, neonatal hemolytic
STRC Deafness, autosomal recessive 16
TEAD1 Sveinsson choreoretinal atrophy
UQCRC2 Mitochondrial Complex III Deficiency, nuclear type 5
VCAN Wagner syndrome 1
VPS37A Spastic paraplegia 53, autosomal recessive
VWF von Willebrand disease, type 1
von Willebrand disease, type 2A
von Willebrand disease, type 3
WDR62 Microcephaly 2, primary, autosomal recessive, with or without cortical malformations

Genes at HGMD

Summary

Number of Variants: 214
Number of Genes: 209

Export to: CSV

ABCA7

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 gt_so_4086_igt_1r 19 rs881768
dbSNP Clinvar
1056065 136.008 A G . 0/1 0 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
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 gt_so_4086_igt_1r 7 rs2109505
dbSNP Clinvar
87079406 225.009 T A . 0/1 0 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
Pos
Qual
Ref
Alt
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View gt_so_4086_igt_1r 3 rs7636910
dbSNP Clinvar
183699516 221.999 T C . 1/1 0 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.33427 0.33430 0.34194 None None None None None None ABCC5|0.264803016|30.31%

ADAL

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View gt_so_4086_igt_1r 15 rs2278857
dbSNP Clinvar
43632549 225.009 T C . 0/1 0 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.53914 0.53910 0.48339 None None None None None None ADAL|0.343367733|24.61%

ADCY8

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View gt_so_4086_igt_1r 8 rs12547243
dbSNP Clinvar
131921956 225.009 A G . 0/1 0 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.54473 0.54470 0.42642 None None None None None None ADCY8|0.569570608|13.01%

ANAPC1

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 gt_so_4086_igt_1r 2 rs4848197
dbSNP Clinvar
112605302 203.009 C T . 0/1 0 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
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View gt_so_4086_igt_1r 2 rs5008284
dbSNP Clinvar
97833342 225.009 G A . 0/1 0 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
Pos
Qual
Ref
Alt
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View gt_so_4086_igt_1r 2 rs62153754
dbSNP Clinvar
96601364 225.009 C T . 0/1 0 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.00 0.52 None None None None None None ANKRD36C|0.001406745|93.3%

ANXA9

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 gt_so_4086_igt_1r 1 rs7532008
dbSNP Clinvar
150960350 134.008 A C . 0/1 0 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.49181 0.49180 0.35315 None None None None None None ANXA9|0.051149554|62.29%

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 gt_so_4086_igt_1r 5 rs10078748
dbSNP Clinvar
115341611 225.009 G T . 0/1 0 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.77676 0.77680 0.18315 None None None None None None None

ARHGAP17

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View gt_so_4086_igt_1r 16 rs17624477
dbSNP Clinvar
24955183 225.009 T C . 0/1 0 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.03974 0.03974 0.05033 None None None None None None ARHGAP17|0.097918586|51.53%

ARHGEF16

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 gt_so_4086_igt_1r 1 rs61734742
dbSNP Clinvar
3395174 225.009 C A . 0/1 0 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.09125 0.09125 0.05199 None None None None None None ARHGEF16|0.026734333|71.01%

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 gt_so_4086_igt_1r 1 rs12731746
dbSNP Clinvar
235392546 225.009 T C . 0/1 0 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.44868 0.44870 0.46463 None None None None None None ARID4B|0.332554915|25.29%

ASGR2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View gt_so_4086_igt_1r 17 rs2304979
dbSNP Clinvar
7012077 153.008 C T . 0/1 0 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.25499 0.25500 0.22305 None None None None None None ASGR2|0.003649861|87.52%

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 gt_so_4086_igt_1r 4 rs6848883
dbSNP Clinvar
156787340 221.999 G A . 1/1 0 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%

ATF1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
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Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View gt_so_4086_igt_1r 12 rs1129406
dbSNP Clinvar
51203371 221.999 C T . 1/1 0 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.39337 0.39340 0.44687 None None None None None None ATF1|0.419687385|19.6%

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 gt_so_4086_igt_1r 13 rs1290177
dbSNP Clinvar
113536132 174.009 T C . 0/1 0 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.56490 0.56490 0.46179 None None None None None None ATP11A|0.13314168|45.42%

ATP6V0A2

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 gt_so_4086_igt_1r 12 rs7135542
dbSNP Clinvar
124229429 221.999 T C . 1/1 0 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.79952 0.79950 0.30463 None None None None None None ATP6V0A2|0.124260234|46.77%

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 gt_so_4086_igt_1r 18 rs319438
dbSNP Clinvar
55364852 221.999 A G . 1/1 0 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.99461 0.99460 0.00692 None None None None None None ATP8B1|0.161108429|41.4%

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 gt_so_4086_igt_1r 13 rs4943266
dbSNP Clinvar
31821992 221.999 T C . 1/1 0 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.97544 0.97540 0.03601 None None None None None None B3GALTL|0.110722838|49.06%

BAIAP2L1

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 gt_so_4086_igt_1r 7 rs777108463
dbSNP Clinvar
97949370 225.009 G A . 0/1 0 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None None None None None None None BAIAP2L1|0.061821177|59.37%

C10orf107

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 gt_so_4086_igt_1r 10 rs35796382
dbSNP Clinvar
63450379 225.009 G A . 0/1 0 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.02436 0.02436 0.00185 None None None None None None C10orf107|0.277213376|29.34%

C10orf53

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View gt_so_4086_igt_1r 10 rs1133837
dbSNP Clinvar
50901938 225.009 C T . 0/1 0 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 gt_so_4086_igt_1r 17 rs14309
dbSNP Clinvar
6919093 221.999 T C . 1/1 0 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 gt_so_4086_igt_1r 20 rs7271033
dbSNP Clinvar
259969 221.999 G C . 1/1 0 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.66853 0.66850 0.36299 None None None None None None C20orf96|0.00266282|89.34%

C6orf89

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 gt_so_4086_igt_1r 6 rs11542163
dbSNP Clinvar
36887476 181.009 C T . 0/1 0 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.11801 0.11800 0.13548 None None None None None None C6orf89|0.124247885|46.78%

C7orf63

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 gt_so_4086_igt_1r 7 rs11563551
dbSNP Clinvar
89937168 225.009 G A . 0/1 0 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.05950 0.05950 0.00802 None None None None None None CFAP69|0.131174602|45.73%

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 gt_so_4086_igt_1r 19 rs8105198
dbSNP Clinvar
48543862 221.999 G A . 1/1 0 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.78674 0.78670 0.22897 None None None None None None CABP5|0.074903985|56.31%

CAST

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 gt_so_4086_igt_1r 5 rs7724759
dbSNP Clinvar
96076487 225.009 G A . 0/1 0 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.17492 0.17490 0.24704 None None None None None None CAST|0.162925975|41.16%

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 gt_so_4086_igt_1r 9 . 154795 225.009 T C . 0/1 0 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 gt_so_4086_igt_1r 17 rs61179727
dbSNP Clinvar
16635980 225.009 G A . 0/1 0 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 gt_so_4086_igt_1r 17 rs8073465
dbSNP Clinvar
20798992 225.009 C T . 0/1 0 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.09924 0.09924 0.11110 None None None None None None CCDC144NL|0.000779475|96.79%

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 gt_so_4086_igt_1r 14 rs1970912
dbSNP Clinvar
91773568 225.009 T C . 0/1 0 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.48043 0.48040 0.42060 None None None None None None CCDC88C|0.052356783|61.96%

CCND1

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 gt_so_4086_igt_1r 11 rs9344
dbSNP Clinvar
69462910 225.009 G A . 0/1 0 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.41354 0.41350 0.38674 None None None None None None CCND1|0.99996103|0.13%

CCND2

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 gt_so_4086_igt_1r 12 rs3217805
dbSNP Clinvar
4388084 221.999 C G . 1/1 0 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.21985 0.21980 0.32631 None None None None None None CCND2|0.94794487|2.32%

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 gt_so_4086_igt_1r 8 rs35792427
dbSNP Clinvar
95161102 225.009 G A . 0/1 0 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 gt_so_4086_igt_1r 1 rs1803531
dbSNP Clinvar
22310824 221.999 T C . 1/1 0 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.89317 0.89320 0.05368 None None None None None None CELA3B|0.015617411|76.71%

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 gt_so_4086_igt_1r 19 rs10411735
dbSNP Clinvar
33444707 225.009 C T . 0/1 0 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.39836 0.39840 0.35007 None None None None None None CEP89|0.007695004|82.86%

CHAF1A

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 gt_so_4086_igt_1r 19 rs2230636
dbSNP Clinvar
4409756 225.009 A G . 0/1 0 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.13818 0.13820 0.19391 None None None None None None CHAF1A|0.043730551|64.6%

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 gt_so_4086_igt_1r 5 rs6877400
dbSNP Clinvar
179996111 221.999 C T . 1/1 0 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 gt_so_4086_igt_1r 13 rs3014960
dbSNP Clinvar
46077381 225.009 G A . 0/1 0 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.90336 0.90340 0.09573 None None None None None None COG3|0.283875936|28.81%

COL15A1

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 gt_so_4086_igt_1r 9 rs7854112
dbSNP Clinvar
101804329 221.999 T C . 1/1 0 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.15036 0.15040 0.11871 None None None None None None COL15A1|0.059345569|60.08%

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 gt_so_4086_igt_1r 1 rs2228550
dbSNP Clinvar
32164206 225.009 T G . 0/1 0 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.62580 0.62580 0.30447 None None None None None None COL16A1|0.160017905|41.54%

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 gt_so_4086_igt_1r 2 rs2228556
dbSNP Clinvar
227892619 225.009 C T . 0/1 0 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.49181 0.49180 0.45464 None None None None None None COL4A4|0.099677436|51.24%

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 gt_so_4086_igt_1r 19 rs1559186
dbSNP Clinvar
10106936 199.009 G C . 0/1 0 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.39497 0.39500 0.41921 None None None None None None COL5A3|0.039580114|65.88%

CSF1

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 gt_so_4086_igt_1r 1 rs2229166
dbSNP Clinvar
110466810 185.009 C A . 0/1 0 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.31649 0.31650 0.23647 None None None None None None CSF1|0.062906751|59.11%

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 gt_so_4086_igt_1r 8 rs667859
dbSNP Clinvar
2820745 225.009 G C . 0/1 0 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.43470 0.43470 0.36771 None None None None None None CSMD1|0.119480951|47.53%

CUL1

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 gt_so_4086_igt_1r 7 rs17171113
dbSNP Clinvar
148489820 225.009 G A . 0/1 0 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.03055 0.03055 0.00031 None None None None None None CUL1|0.867334081|4.3%

CYB5A

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 gt_so_4086_igt_1r 18 rs7238987
dbSNP Clinvar
71928150 221.999 C T . 1/1 0 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.14117 0.14120 0.14970 None None None None None None CYB5A|0.075036645|56.3%

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 gt_so_4086_igt_1r 8 rs7818826
dbSNP Clinvar
143959250 225.009 T C . 0/1 0 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%

DENND3

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 gt_so_4086_igt_1r 8 rs2289001
dbSNP Clinvar
142170884 225.009 C T . 0/1 0 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.29313 0.29310 0.25015 None None None None None None DENND3|0.011564148|79.53%

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 gt_so_4086_igt_1r 12 rs1136082
dbSNP Clinvar
56335107 225.009 A G . 0/1 0 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.84764 0.84760 0.14663 None None None None None None DGKA|0.088457304|53.54%

DNAH8

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 gt_so_4086_igt_1r 6 rs1678729
dbSNP Clinvar
38800209 225.009 T C . 0/1 0 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.27256 0.27260 0.21444 None None None None None None DNAH8|0.998961058|0.42%

DNMT3B

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 gt_so_4086_igt_1r 20 rs2424922
dbSNP Clinvar
31386449 225.009 T C . 0/1 0 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.75579 0.75580 0.42227 None None None None None None DNMT3B|0.978021249|1.52%

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 gt_so_4086_igt_1r 2 rs2303606
dbSNP Clinvar
71838597 225.009 C A . 0/1 0 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.44948 0.44950 0.47155 None None None None None None DYSF|0.429167677|19.17%

EDNRA

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 gt_so_4086_igt_1r 4 rs141331809
dbSNP Clinvar
148463632 225.009 A G . 0/1 0 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.00160 0.00160 0.00377 None None None None None None EDNRA|0.978477157|1.51%

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 gt_so_4086_igt_1r 12 rs8916
dbSNP Clinvar
53433486 225.009 C T . 0/1 0 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.75379 0.75380 0.19484 None None None None None None EIF4B|0.258261547|30.89%

ELMSAN1

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 gt_so_4086_igt_1r 14 rs2075025
dbSNP Clinvar
74196686 225.009 T C . 0/1 0 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.60403 0.60400 0.44585 None None None None None None ELMSAN1|0.126163876|46.42%

ENTPD2

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 gt_so_4086_igt_1r 9 rs4880083
dbSNP Clinvar
139944736 225.009 C G . 0/1 0 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None None None None None None None ENTPD2|0.020384427|73.98%

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 gt_so_4086_igt_1r 20 rs8825
dbSNP Clinvar
34144746 203.009 A G . 0/1 0 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.16074 0.16070 0.14532 None None None None None None ERGIC3|0.237081134|32.69%

FAF1

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 gt_so_4086_igt_1r 1 rs11205753
dbSNP Clinvar
51121198 225.009 T C . 0/1 0 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.09225 0.09225 0.09826 None None None None None None FAF1|0.957930886|2.02%

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 gt_so_4086_igt_1r 7 rs3735231
dbSNP Clinvar
23015831 225.009 T C . 0/1 0 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 gt_so_4086_igt_1r 20 rs75063166
dbSNP Clinvar
25829342 225.009 T C . 0/1 0 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None None None None None None None FAM182B|0.001507273|92.73%

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 gt_so_4086_igt_1r 3 rs72492997
dbSNP Clinvar
10088266 176.009 G T . 0/1 0 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None None None None None None None FANCD2|0.244996414|32.01%

FIGLA

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 gt_so_4086_igt_1r 2 rs199650129
dbSNP Clinvar
71014931 225.009 T A . 0/1 0 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.02157 0.02157 0.00008 None None None None None None FIGLA|0.040594305|65.57%

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 gt_so_4086_igt_1r 11 rs654573
dbSNP Clinvar
64011441 221.999 T C . 1/1 0 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 gt_so_4086_igt_1r 2 rs4664114
dbSNP Clinvar
153378459 221.999 T C . 1/1 0 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.69070 0.69070 0.34572 None None None None None None FMNL2|0.571016453|12.93%

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 gt_so_4086_igt_1r 22 rs4819925
dbSNP Clinvar
17446991 225.009 C T . 0/1 0 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.82528 0.82530 0.18408 None None None None None None GAB4|0.003932508|87.14%

GABRP

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 gt_so_4086_igt_1r 5 rs7725726
dbSNP Clinvar
170215670 225.009 G A . 0/1 0 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.24561 0.24560 0.20006 None None None None None None GABRP|0.137969377|44.71%

GALP

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 gt_so_4086_igt_1r 19 rs575756
dbSNP Clinvar
56694505 210.009 C T . 0/1 0 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.31450 0.31450 0.31509 None None None None None None GALP|0.001865738|91.36%

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 gt_so_4086_igt_1r 2 rs4665830
dbSNP Clinvar
26399214 221.999 G A . 1/1 0 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
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View gt_so_4086_igt_1r 15 rs2958059
dbSNP Clinvar
57918090 221.999 A G . 1/1 0 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%

GEMIN5

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 gt_so_4086_igt_1r 5 rs816736
dbSNP Clinvar
154271948 221.999 G A . 1/1 0 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.95148 0.95150 0.04767 None None None None None None GEMIN5|0.180064442|39.04%

GFER

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 gt_so_4086_igt_1r 16 rs1046502
dbSNP Clinvar
2035868 225.009 C T . 0/1 0 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.23083 0.23080 0.21237 None None None None None None GFER|0.159464404|41.65%

GIPC1

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 gt_so_4086_igt_1r 19 rs1127307
dbSNP Clinvar
14589378 225.009 C T . 0/1 0 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
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View gt_so_4086_igt_1r 17 rs12951761
dbSNP Clinvar
4693054 207.009 G A . 0/1 0 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.51258 0.51260 0.44769 None None None None None None GLTPD2|0.006085441|84.48%

GRAMD1A

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 gt_so_4086_igt_1r 19 rs2290647
dbSNP Clinvar
35506729 187.009 G A . 0/1 0 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.25539 0.25540 0.30418 None None None None None None GRAMD1A|0.103950782|50.42%

GRIK4

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 gt_so_4086_igt_1r 11 rs2156634
dbSNP Clinvar
120776001 221.999 G A . 1/1 0 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.87800 0.87800 0.11927 None None None None None None GRIK4|0.59773792|11.84%

HCLS1

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 gt_so_4086_igt_1r 3 rs3772126
dbSNP Clinvar
121354583 225.009 G A . 0/1 0 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.21825 0.21830 0.18768 None None None None None None HCLS1|0.153988686|42.41%

HEATR1

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 gt_so_4086_igt_1r 1 rs4518892
dbSNP Clinvar
236744712 225.009 C A . 0/1 0 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.41474 0.41470 0.47855 None None None None None None HEATR1|0.11883394|47.61%

HEATR4

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 gt_so_4086_igt_1r 14 rs8014577
dbSNP Clinvar
73963383 225.009 T C . 0/1 0 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.80970 0.80970 0.23750 None None None None None None HEATR4|0.005039419|85.75%

HEG1

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 gt_so_4086_igt_1r 3 rs59232004
dbSNP Clinvar
124738107 193.009 C T . 0/1 0 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.49221 0.49220 0.46343 None None None None None None HEG1|0.04030264|65.66%

HTRA4

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View gt_so_4086_igt_1r 8 rs4733961
dbSNP Clinvar
38835666 225.009 T C . 0/1 0 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.78195 0.78190 0.25965 None None None None None None HTRA4|0.040089057|65.75%

IRAK1BP1

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 gt_so_4086_igt_1r 6 rs6908105
dbSNP Clinvar
79595097 225.009 A G . 0/1 0 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.26558 0.26560 0.33490 None None None None None None IRAK1BP1|0.071304062|57.14%

ITGA4

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View gt_so_4086_igt_1r 2 rs1143674
dbSNP Clinvar
182374534 225.009 A G . 0/1 0 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.66154 0.66150 0.39954 None None None None None None ITGA4|0.417712401|19.71%
View gt_so_4086_igt_1r 2 rs7562325
dbSNP Clinvar
182399097 225.009 T C . 0/1 0 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.65695 0.65690 0.39618 None None None None None None ITGA4|0.417712401|19.71%

ITGA5

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 gt_so_4086_igt_1r 12 rs1249378
dbSNP Clinvar
54799450 221.999 A G . 1/1 0 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.99561 0.99560 0.00515 None None None None None None ITGA5|0.422637925|19.47%

ITPR1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View gt_so_4086_igt_1r 3 rs2306875
dbSNP Clinvar
4712413 116.008 G A . 0/1 0 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.61402 0.61400 0.31915 None None None None None None ITPR1|0.673215803|9.28%

KALRN

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 gt_so_4086_igt_1r 3 rs2289843
dbSNP Clinvar
124196094 219.009 A T . 0/1 0 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.19728 0.19730 0.08473 None None None None None None KALRN|0.624262379|10.99%

KIAA1731

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
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Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View gt_so_4086_igt_1r 11 rs1944101
dbSNP Clinvar
93402096 221.999 C A . 1/1 0 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.88439 0.88440 None None None None None None CEP295|0.00978904|81%

KLK3

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 gt_so_4086_igt_1r 19 rs11573
dbSNP Clinvar
51359497 108.008 T C . 0/1 0 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.33986 0.33990 0.35791 None None None None None None KLK3|0.004830533|86.04%

KRT6A

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 gt_so_4086_igt_1r 12 rs12578949
dbSNP Clinvar
52884735 225.009 A G . 0/1 0 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.31989 0.31990 0.28446 None None None None None None KRT6A|0.090341508|53.15%

KRT75

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 gt_so_4086_igt_1r 12 rs401926
dbSNP Clinvar
52822258 225.009 A G . 0/1 0 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.61262 0.61260 0.39451 None None None None None None KRT75|0.20098031|36.65%

KRT84

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 gt_so_4086_igt_1r 12 rs1613929
dbSNP Clinvar
52777580 225.009 A C . 0/1 0 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.33227 0.33230 0.26273 None None None None None None KRT84|0.034252567|67.7%

LRP1

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 gt_so_4086_igt_1r 12 rs1800194
dbSNP Clinvar
57567762 225.009 C T . 0/1 0 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.38958 0.38960 0.36714 None None None None None None LRP1|0.239848879|32.46%

LRP1B

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 gt_so_4086_igt_1r 2 rs1525579
dbSNP Clinvar
141816621 221.999 A G . 1/1 0 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.94529 0.94530 0.05952 None None None None None None LRP1B|0.97329857|1.62%

LRRC16A

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 gt_so_4086_igt_1r 6 rs913455
dbSNP Clinvar
25420344 221.999 C G . 1/1 0 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.94748 0.94750 0.08243 None None None None None None LRRC16A|0.106228514|49.94%

LRRC39

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 gt_so_4086_igt_1r 1 rs12122948
dbSNP Clinvar
100623922 225.009 T C . 0/1 0 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.03115 0.03115 0.04890 None None None None None None LRRC39|0.154793715|42.33%

LSG1

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 gt_so_4086_igt_1r 3 rs1675943
dbSNP Clinvar
194387300 225.009 C T . 0/1 0 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.42512 0.42510 0.45148 None None None None None None LSG1|0.052660927|61.87%

LTBP4

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 gt_so_4086_igt_1r 19 rs7367
dbSNP Clinvar
41129842 225.009 C T . 0/1 0 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.51877 0.51880 0.48816 None None None None None None LTBP4|0.091127701|53.01%