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Genes:
ABCA13, ABCB1, ABCB5, ABCF2, ADAM22, ADCY1, AGR2, AKAP9, AMPH, ANKMY2, ANKRD7, ANLN, AOAH, AOC1, ASB10, ASB15, ASIC3, ASNS, ATG9B, ATP6V0A4, AVL9, AZGP1, BAIAP2L1, BAZ1B, BLVRA, BMPER, C7orf34, C7orf62, C7orf63, CADPS2, CALCR, CALD1, CAMK2B, CAPZA2, CCDC129, CCDC146, CCL24, CCM2, CCT6A, CDHR3, CHPF2, CLCN1, CLDN15, CLIP2, COBL, COG5, COL1A2, COL26A1, COL28A1, CPA1, CPA4, CPA5, CPVL, CUX1, CYP51A1, CYTH3, DBNL, DDX56, DFNA5, DGKI, DMTF1, DNAH11, DNAJC30, DPP6, DPY19L1, DTX2, EGFR, EIF2AK1, ELN, EPDR1, EPHA1, EPHB4, ERVW-1, EXOC4, FAM126A, FAM188B, FAM220A, FAM71F1, FBXL13, FIGNL1, FOXK1, FZD1, GALNTL5, GARS, GET4, GIMAP2, GIMAP5, GIMAP6, GIMAP7, GPER1, GPNMB, GPR146, GPR37, GRB10, GRM8, GSAP, GTPBP10, GUSB, HBP1, HDAC9, HEATR2, HECW1, HOXA7, HTR5A, HYAL4, IFRD1, IGF2BP3, IGFBP1, IKZF1, IMPDH1, INMT, IQCE, IRF5, ITGB8, KBTBD2, KCNH2, KIAA1549, KLHL7, KMT2C, KMT2E, KRBA1, LAMB1, LAMTOR4, LHFPL3, LRGUK, LRRC17, LRRC4, LRRN3, LRWD1, LUC7L2, MDH2, MEPCE, MET, METTL2B, MGAM, MICALL2, MPP6, MRPL32, MUC17, MUC3A, MYL7, MYO1G, NDUFA5, NFE2L3, NME8, NOM1, NOS3, NPC1L1, NPSR1, NPVF, NRCAM, NT5C3A, NUB1, NUDCD3, NUDT1, NUPL2, OPN1SW, OR2A14, OR2AE1, OR2F1, OR2F2, OR6B1, OR6V1, OR9A2, OSBPL3, PAPOLB, PARP12, PAXIP1, PCLO, PDGFA, PIK3CG, PILRB, PKD1L1, PLXNA4, PMS2, PODXL, POLM, POM121, POM121C, POM121L12, POMZP3, PON1, PON3, POU6F2, PPP1R9A, PRKAR1B, PRPS1L1, PRSS1, PRSS37, PRSS58, PTPN12, PTPRN2, PTPRZ1, RAB19, RADIL, RAMP3, RBM33, RELN, RINT1, RNF32, SAMD9, SAMD9L, SBDS, SCRN1, SDK1, SEMA3A, SEMA3C, SEMA3D, SFRP4, SLC12A9, SLC13A4, SLC26A3, SLC35B4, SLC37A3, SLC4A2, SP8, SPDYE3, SRCRB4D, SRRT, SSMEM1, STEAP1B, STEAP2, STK31, STRA8, STX1A, STYXL1, SUGCT, SUN1, SVOPL, TAF6, TAS2R38, TAS2R60, TAX1BP1, TBL2, TBX20, TBXAS1, THSD7A, TMEM130, TMEM176A, TMEM176B, TMEM184A, TMEM209, TMEM213, TNPO3, TNRC18, TNS3, TRBC2, TRBJ2-7, TRBV10-1, TRBV19, TRBV20-1, TRBV24-1, TRBV30, TRBV4-2, TRBV5-4, TRBV5-5, TRBV6-5, TRBV6-6, TRBV6-8, TRBV6-9, TRBV7-3, TRBV7-7, TRBV7-8, TRGV9, TRIM4, TRIM56, TRIP6, TSC22D4, TSPAN12, TSPAN13, TYW1, TYW1B, UBE2H, UFSP1, VIPR2, VPS41, WASL, WDR91, WIPI2, WNT16, YWHAG, ZAN, ZC3HAV1, ZC3HAV1L, ZC3HC1, ZCWPW1, ZFAND2A, ZMIZ2, ZNF107, ZNF12, ZNF138, ZNF273, ZNF277, ZNF398, ZNF425, ZNF479, ZNF680, ZNF716, ZNF783, ZNF804B, ZNF862, ZNF92, ZP3,

Genes at Omim

ABCB1, ADAM22, ADCY1, AKAP9, ANLN, ASB10, ASNS, ATP6V0A4, BLVRA, BMPER, CALCR, CAMK2B, CLCN1, COG5, COL1A2, CUX1, DNAH11, DPP6, EGFR, ELN, EPHB4, FAM126A, GARS, GPNMB, GUSB, IKZF1, IMPDH1, IQCE, IRF5, KCNH2, KLHL7, KMT2C, LAMB1, MDH2, MET, NME8, NOS3, NPC1L1, NPSR1, NT5C3A, OPN1SW, PCLO, PKD1L1, PMS2, PON1, POU6F2, PRSS1, PTPN12, RELN, SAMD9, SAMD9L, SBDS, SEMA3A, SFRP4, SLC26A3, TAF6, TAS2R38, TBX20, TBXAS1, TNPO3, TSPAN12, YWHAG, ZP3,
ABCB1 {Inflammatory bowel disease 13}, 612244 (3)
{Colchicine resistance}, 120080 (3)
ADAM22 ?Epileptic encephalopathy, early infantile, 61, 617933 (3)
ADCY1 ?Deafness, autosomal recessive 44, 610154 (3)
AKAP9 ?Long QT syndrome-11, 611820 (3)
ANLN Focal segmental glomerulosclerosis 8, 616032 (3)
ASB10 Glaucoma 1, open angle, F, 603383 (3)
ASNS Asparagine synthetase deficiency, 615574 (3)
ATP6V0A4 Renal tubular acidosis, distal, autosomal recessive, 602722 (3)
BLVRA Hyperbiliverdinemia, 614156 (3)
BMPER Diaphanospondylodysostosis, 608022 (3)
CALCR {Osteoporosis, postmenopausal, susceptibility}, 166710 (3)
CAMK2B Mental retardation, autosomal dominant 54, 617799 (3)
CLCN1 Myotonia congenita, dominant, 160800 (3)
Myotonia congenita, recessive, 255700 (3)
Myotonia levior, recessive (3)
COG5 Congenital disorder of glycosylation, type IIi, 613612 (3)
COL1A2 {Osteoporosis, postmenopausal}, 166710 (3)
Ehlers-Danlos syndrome, arthrochalasia type, 2, 617821 (3)
Ehlers-Danlos syndrome, cardiac valvular type, 225320 (3)
Osteogenesis imperfecta, type II, 166210 (3)
Osteogenesis imperfecta, type III, 259420 (3)
Osteogenesis imperfecta, type IV, 166220 (3)
CUX1 Global developmental delay with or without impaired intellectual development, 618330 (3)
DNAH11 Ciliary dyskinesia, primary, 7, with or without situs inversus, 611884 (3)
DPP6 {Ventricular fibrillation, paroxysmal familial, 2}, 612956 (3)
Mental retardation, autosomal dominant 33, 616311 (3)
EGFR Adenocarcinoma of lung, response to tyrosine kinase inhibitor in, 211980 (3)
{Nonsmall cell lung cancer, susceptibility to}, 211980 (3)
?Inflammatory skin and bowel disease, neonatal, 2, 616069 (3)
Nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, 211980 (3)
ELN Cutis laxa, autosomal dominant, 123700 (3)
Supravalvar aortic stenosis, 185500 (3)
EPHB4 Capillary malformation-arteriovenous malformation 2, 618196 (3)
Lymphatic malformation 7, 617300 (3)
FAM126A Leukodystrophy, hypomyelinating, 5, 610532 (3)
GARS Charcot-Marie-Tooth disease, type 2D, 601472 (3)
Neuropathy, distal hereditary motor, type VA, 600794 (3)
GPNMB Amyloidosis, primary localized cutaneous, 3, 617920 (3)
GUSB Mucopolysaccharidosis VII, 253220 (3)
IKZF1 Immunodeficiency, common variable, 13, 616873 (3)
IMPDH1 Leber congenital amaurosis 11, 613837 (3)
Retinitis pigmentosa 10, 180105 (3)
IQCE ?Polydactyly, postaxial, type A7, 617642 (3)
IRF5 {Inflammatory bowel disease 14}, 612245 (3)
{Systemic lupus erythematosus, susceptibility to, 10}, 612251 (3)
KCNH2 {Long QT syndrome 2, acquired, susceptibility to}, 613688 (3)
Long QT syndrome 2, 613688 (3)
Short QT syndrome 1, 609620 (3)
KLHL7 Cold-induced sweating syndrome 3, 617055 (3)
Retinitis pigmentosa 42, 612943 (3)
KMT2C Kleefstra syndrome 2, 617768 (3)
LAMB1 Lissencephaly 5, 615191 (3)
MDH2 Epileptic encephalopathy, early infantile, 51, 617339 (3)
MET Hepatocellular carcinoma, childhood type, somatic, 114550 (3)
{Osteofibrous dysplasia, susceptibility to}, 607278 (3)
?Deafness, autosomal recessive 97, 616705 (3)
Renal cell carcinoma, papillary, 1, familial and somatic, 605074 (3)
NME8 Ciliary dyskinesia, primary, 6, 610852 (3)
NOS3 {Hypertension, pregnancy-induced}, 189800 (3)
{Hypertension, susceptibility to}, 145500 (3)
{Ischemic stroke, susceptibility to}, 601367 (3)
{Placental abruption} (3)
{Alzheimer disease, late-onset, susceptibility to}, 104300 (3)
{Coronary artery spasm 1, susceptibility to} (3)
NPC1L1 [Ezetimibe, nonresponse to], 617966 (3)
[Low density lipoprotein cholesterol level QTL 7], 617966 (3)
NPSR1 {Asthma, susceptibility to, 2}, 608584 (3)
NT5C3A Anemia, hemolytic, due to UMPH1 deficiency, 266120 (3)
OPN1SW Colorblindness, tritan, 190900 (3)
PCLO ?Pontocerebellar hypoplasia, type 3, 608027 (3)
PKD1L1 Heterotaxy, visceral, 8, autosomal, 617205 (3)
PMS2 Colorectal cancer, hereditary nonpolyposis, type 4, 614337 (3)
Mismatch repair cancer syndrome, 276300 (3)
PON1 {Microvascular complications of diabetes 5}, 612633 (3)
{Organophosphate poisoning, sensitivity to} (3)
{Coronary artery disease, susceptibility to} (3)
{Coronary artery spasm 2, susceptibility to (3)
POU6F2 {Wilms tumor susceptibility-5}, 601583 (3)
PRSS1 Pancreatitis, hereditary, 167800 (3)
Trypsinogen deficiency, 614044 (1)
PTPN12 Colon cancer, somatic, 114500 (3)
RELN Lissencephaly 2 (Norman-Roberts type), 257320 (3)
{Epilepsy, familial temporal lobe, 7}, 616436 (3)
SAMD9 MIRAGE syndrome, 617053 (3)
Tumoral calcinosis, familial, normophosphatemic, 610455 (3)
SAMD9L Ataxia-pancytopenia syndrome, 159550 (3)
SBDS Shwachman-Diamond syndrome, 260400 (3)
{Aplastic anemia, susceptibility to}, 609135 (3)
SEMA3A {Hypogonadotropic hypogonadism 16 with or without anosmia}, 614897 (3)
SFRP4 Pyle disease, 265900 (3)
SLC26A3 Diarrhea 1, secretory chloride, congenital, 214700 (3)
TAF6 Alazami-Yuan syndrome, 617126 (3)
TAS2R38 [Phenylthiocarbamide tasting], 171200 (3)
TBX20 Atrial septal defect 4, 611363 (3)
TBXAS1 Ghosal hematodiaphyseal syndrome, 231095 (3)
?Thromboxane synthase deficiency, 614158 (1)
TNPO3 Muscular dystrophy, limb-girdle, autosomal dominant 2, 608423 (3)
TSPAN12 Exudative vitreoretinopathy 5, 613310 (3)
YWHAG Epileptic encephalopathy, early infantile, 56, 617665 (3)
ZP3 Oocyte maturation defect 3, 617712 (3)

Genes at Clinical Genomics Database

ABCB1, ADCY1, AKAP9, ANLN, ASNS, ATP6V0A4, BLVRA, BMPER, CCM2, CLCN1, COG5, COL1A2, DFNA5, DNAH11, DPP6, EGFR, ELN, FAM126A, GARS, GUSB, IKZF1, IMPDH1, KCNH2, KLHL7, LAMB1, MET, NME8, NPC1L1, NT5C3A, OPN1SW, PMS2, PON1, POU6F2, PRSS1, RELN, SAMD9, SBDS, SEMA3A, SLC26A3, SUGCT, TAS2R38, TBX20, TBXAS1, TNPO3, TSPAN12,
ABCB1 Colchicine metabolism, association with
ADCY1 Deafness, autosomal dominant 44
AKAP9 Long QT syndrome 11
ANLN Focal segmental glomerulosclerosis 8
ASNS Asparagine synthetase deficiency
ATP6V0A4 Renal tubular acidosis, distal, autosomal recessive
BLVRA Hyperbiliverdinemia
BMPER Diaphanospondylodysostosis
CCM2 Cerebral cavernous malformations 2
CLCN1 Myotonia congenita, autosomal dominant
Myotonia congenita, autosomal recessive, Myotonia levior
COG5 Congenital disorder of glycosylation, type IIi
COL1A2 Ehlers-Danlos syndrome, cardiac valvular form
DFNA5 Deafness, autosomal dominant 5
DNAH11 Ciliary dyskinesia, primary, 7
DPP6 Ventricular fibrillation, paroxysmal familial, 2
EGFR Acute myeloid leukemia, familial
Lung cancer, familial, susceptibilty to
Inflammatory skin and bowel disease, neonatal, 2
ELN Cutis laxa, autosomal dominant 1
Supravalvular aortic stenosis
FAM126A Leukodystrophy, hypomyelinating, 5
GARS Charcot-Marie-Tooth disease, type 2D
Neuropathy, distal hereditary motor, type V
GUSB Mucopolysaccharidosis type VII
IKZF1 Immunodeficiency, common variable, 13
IMPDH1 Retinitis pigmentosa 10
Leber congenital amaurosis 11
KCNH2 Long QT syndrome 2
Short QT syndrome 1
KLHL7 Retinitis pigmentosa 42
LAMB1 Lissencephaly 5
MET Renal cell carcinoma, papillary
Deafness, autosomal recessive 97
NME8 Ciliary dyskinesia, primary, 6
NPC1L1 Ezetimibe, nonresponse to
NT5C3A Uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to
OPN1SW Tritanopia
PMS2 Colorectal cancer, hereditary nonpolyposis type 4
Mismatch repair cancer syndrome
PON1 Clopidogrel treatment, sensitivity to
POU6F2 Wilms tumor 5
PRSS1 Pancreatitis, hereditary
RELN Epilepsy, familial temporal lobe, 7
Lissencephaly 2
SAMD9 Tumoral calcinosis, normophosphatemic
SBDS Shwachman-Diamond syndrome
Aplastic anemia
SEMA3A Hypogonadotropic hypogonadism 16 with or without anosmia
SLC26A3 Diarrhea 1, secretory chloride, congenital
SUGCT Glutaric aciduria III
TAS2R38 Thiourea tasting
Phenylthiocarbamide tasting
TBX20 Atrial septal defect 4
TBXAS1 Ghosal hematodiaphyseal syndrome
TNPO3 Muscular dystrophy, limb-girdle, type 1F
TSPAN12 Exudative vitreoretinopathy 5
Retinal dysplasia and severe familial exudative vitreoretinopathy

Genes at HGMD

Summary

Number of Variants: 1933
Number of Genes: 303

Export to: CSV

ABCA13

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 cmt4 7 rs1880738
dbSNP Clinvar
48285485 490.36 C T PASS 0/1 33 NON_SYNONYMOUS_CODING MODERATE None 0.40655 0.40650 0.35164 0.00 None None None None None None ABCA13|0.04721773|63.52%
View cmt4 7 rs6583483
dbSNP Clinvar
48313949 454.04 C T PASS 0/1 29 SYNONYMOUS_CODING LOW None 0.12660 0.12660 0.09410 None None None None None None ABCA13|0.04721773|63.52%
View cmt4 7 rs17712293
dbSNP Clinvar
48311563 122.98 T G PASS 0/1 14 NON_SYNONYMOUS_CODING MODERATE None 0.19449 0.19450 0.14847 0.08 None None None None None None ABCA13|0.04721773|63.52%
View cmt4 7 rs6955212
dbSNP Clinvar
48314279 1023.84 G A PASS 0/1 79 SYNONYMOUS_CODING LOW None 0.19329 0.19330 0.14548 None None None None None None ABCA13|0.04721773|63.52%
View cmt4 7 rs6583448
dbSNP Clinvar
48545976 2037.25 A G PASS 1/1 76 NON_SYNONYMOUS_CODING MODERATE None 1.00000 1.00000 0.00 None None None None None None ABCA13|0.04721773|63.52%
View cmt4 7 rs2361519
dbSNP Clinvar
48287840 144.9 G A PASS 0/1 11 NON_SYNONYMOUS_CODING MODERATE None 0.19808 0.19810 0.16171 0.00 None None None None None None ABCA13|0.04721773|63.52%
View cmt4 7 rs1358066
dbSNP Clinvar
48312674 237.03 G A PASS 0/1 29 SYNONYMOUS_CODING LOW None 0.57528 0.57530 0.49452 None None None None None None ABCA13|0.04721773|63.52%

ABCB1

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 cmt4 7 rs1128503
dbSNP Clinvar
87179601 348.62 A G PASS 0/1 30 SYNONYMOUS_CODING LOW None 0.58387 0.58390 0.35760 None None None None None None ABCB1|0.831468236|5.08%
View cmt4 7 rs2032582
dbSNP Clinvar
87160618 377.73 A C PASS 0/1 39 NON_SYNONYMOUS_CODING MODERATE None 0.04872 0.61700 0.32193 1.00 0.00 None None None None None None ABCB1|0.831468236|5.08%
View cmt4 7 rs1045642
dbSNP Clinvar
87138645 724.39 A G PASS 0/1 102 SYNONYMOUS_CODING LOW None 0.60483 0.60480 0.42334 None None None None None None ABCB1|0.831468236|5.08%

ABCB5

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 cmt4 7 rs2301641
dbSNP Clinvar
20698270 401.23 A G PASS 0/1 43 NON_SYNONYMOUS_CODING MODERATE None 0.36382 0.36380 0.39997 1.00 0.00 None None None None None None ABCB5|0.12579132|46.5%
View cmt4 7 rs10254317
dbSNP Clinvar
20768013 641.87 G A PASS 0/1 55 SYNONYMOUS_CODING LOW None 0.59605 0.59600 0.47801 None None None None None None ABCB5|0.12579132|46.5%
View cmt4 7 rs117497357
dbSNP Clinvar
20768077 98.66 A T PASS 0/1 9 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.01398 0.01398 0.03360 0.94 0.00 None None None None None None ABCB5|0.12579132|46.5%
View cmt4 7 rs139633934
dbSNP Clinvar
20689734 194.73 G A PASS 0/1 22 SYNONYMOUS_CODING LOW None 0.00140 0.00140 0.00126 None None None None None None ABCB5|0.12579132|46.5%

ABCF2

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 cmt4 7 rs6464133
dbSNP Clinvar
150921950 728.15 A G PASS 0/1 55 SYNONYMOUS_CODING LOW None 0.73902 0.73900 0.28925 None None None None None None ABCF2|0.445512851|18.39%
View cmt4 7 rs6949587
dbSNP Clinvar
150916228 1106.0 G A PASS 0/1 107 SYNONYMOUS_CODING LOW None 0.41933 0.41930 0.34822 None None None None None None ABCF2|0.445512851|18.39%

ADAM22

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 cmt4 7 rs2279542
dbSNP Clinvar
87564497 133.01 C G PASS 0/1 13 NON_SYNONYMOUS_CODING MODERATE None 0.63039 0.63040 0.36502 0.75 0.00 None None None None None None ADAM22|0.517774472|15.06%

ADCY1

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 cmt4 7 rs2293106
dbSNP Clinvar
45753324 672.75 G A PASS 0/1 45 SYNONYMOUS_CODING LOW None 0.16713 0.16710 0.21406 None None None None None None ADCY1|0.149696441|43.08%

AGR2

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 cmt4 7 rs6842
dbSNP Clinvar
16834597 682.25 A G PASS 0/1 38 SYNONYMOUS_CODING LOW None 0.33546 0.33550 0.38490 None None None None None None AGR2|0.129707594|45.92%

AKAP9

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 cmt4 7 rs13245393
dbSNP Clinvar
91641928 360.72 A G PASS 0/1 20 SYNONYMOUS_CODING LOW None 0.37380 0.37380 0.44180 None None None None None None AKAP9|0.267262044|30.07%
View cmt4 7 rs6960867
dbSNP Clinvar
91712698 243.33 A G PASS 0/1 29 NON_SYNONYMOUS_CODING MODERATE None 0.29593 0.29590 0.35607 0.00 None None None None None None AKAP9|0.267262044|30.07%
View cmt4 7 rs10228334
dbSNP Clinvar
91713972 520.83 C T PASS 0/1 34 None None None 0.37380 0.37380 0.44096 None None None None None None AKAP9|0.267262044|30.07%
View cmt4 7 rs10236397
dbSNP Clinvar
91691601 578.59 C T PASS 0/1 39 SYNONYMOUS_CODING LOW None 0.35982 0.35980 0.42773 None None None None None None AKAP9|0.267262044|30.07%
View cmt4 7 rs1063243
dbSNP Clinvar
91726927 457.18 A C PASS 0/1 38 SYNONYMOUS_CODING LOW None 0.37740 0.37740 0.44626 None None None None None None AKAP9|0.267262044|30.07%
View cmt4 7 rs6964587
dbSNP Clinvar
91630620 742.77 G T PASS 0/1 53 NON_SYNONYMOUS_CODING MODERATE None 0.37220 0.37220 0.44047 0.00 None None None None None None AKAP9|0.267262044|30.07%
View cmt4 7 rs28927678
dbSNP Clinvar
91715662 2244.0 C T PASS 0/1 190 SYNONYMOUS_CODING LOW None 0.29573 0.29570 0.35568 None None None None None None AKAP9|0.267262044|30.07%
View cmt4 7 rs10644111,rs397825978
dbSNP Clinvar
91652178 651.94 A AAAC PASS 0/1 19 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None 0.42472 0.42470 0.47907 None None None None None None AKAP9|0.267262044|30.07%

AMPH

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 cmt4 7 rs147234401
dbSNP Clinvar
38574539 319.62 G A PASS 0/1 35 NON_SYNONYMOUS_CODING MODERATE None 0.00040 0.00040 0.00192 0.00 0.98 None None None None None None AMPH|0.168231418|40.54%

ANKMY2

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 cmt4 7 rs11532682
dbSNP Clinvar
16666741 164.0 T G PASS 0/1 22 SYNONYMOUS_CODING LOW None 0.13998 0.14000 0.17354 None None None None None None ANKMY2|0.129496668|45.94%
View cmt4 7 rs11540037
dbSNP Clinvar
16655387 286.8 C T PASS 0/1 20 SYNONYMOUS_CODING LOW None 0.17632 0.17630 0.17031 None None None None None None ANKMY2|0.129496668|45.94%

ANKRD7

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View cmt4 7 rs10487391
dbSNP Clinvar
117865028 433.66 G A PASS 0/1 39 SYNONYMOUS_CODING LOW None 0.00919 0.03155 None None None None None None ANKRD7|0.005530332|85.18%

ANLN

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 cmt4 7 rs10224902
dbSNP Clinvar
36455477 429.13 T C PASS 0/1 37 SYNONYMOUS_CODING LOW None 0.13279 0.13280 0.11149 None None None None None None ANLN|0.180116375|39.04%
View cmt4 7 rs3735398
dbSNP Clinvar
36446121 1577.84 A G PASS 0/1 139 SYNONYMOUS_CODING LOW None 0.11562 0.11560 0.09788 None None None None None None ANLN|0.180116375|39.04%
View cmt4 7 rs61549495
dbSNP Clinvar
36447349 326.71 A ACTT PASS 0/1 23 CODON_INSERTION MODERATE None 0.44948 0.44950 0.38393 None None None None None None ANLN|0.180116375|39.04%
View cmt4 7 rs3735400
dbSNP Clinvar
36438709 231.11 C G PASS 0/1 27 NON_SYNONYMOUS_CODING MODERATE None 0.12700 0.12700 0.11610 0.00 1.00 None None None None None None ANLN|0.180116375|39.04%
View cmt4 7 rs197367
dbSNP Clinvar
36445856 345.17 G A PASS 0/1 51 NON_SYNONYMOUS_CODING MODERATE None 0.62061 0.62060 0.46094 1.00 0.00 None None None None None None ANLN|0.180116375|39.04%

AOAH

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 cmt4 7 rs2228411
dbSNP Clinvar
36763688 431.54 C T PASS 0/1 37 SYNONYMOUS_CODING LOW None 0.37820 0.37820 0.41143 None None None None None None AOAH|0.05743156|60.58%
View cmt4 7 rs57543920
dbSNP Clinvar
36552790 1044.25 G GT PASS 1/1 28 FRAME_SHIFT HIGH None 0.87740 0.87740 None None None None None None AOAH|0.05743156|60.58%

AOC1

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 cmt4 7 rs1049742
dbSNP Clinvar
150554553 330.5 C T PASS 0/1 36 NON_SYNONYMOUS_CODING MODERATE None 0.05312 0.05312 0.07795 0.00 0.98 None None None None None None AOC1|0.017990966|75.29%
View cmt4 7 rs10893
dbSNP Clinvar
150555915 274.2 A G PASS 0/1 21 SYNONYMOUS_CODING LOW None 0.45907 0.45910 0.35710 None None None None None None AOC1|0.017990966|75.29%
View cmt4 7 rs12179
dbSNP Clinvar
150557622 317.16 G A PASS 0/1 27 SYNONYMOUS_CODING LOW None 0.45328 0.45330 0.35954 None None None None None None AOC1|0.017990966|75.29%
View cmt4 7 rs1049793
dbSNP Clinvar
150557665 627.81 C G PASS 0/1 51 NON_SYNONYMOUS_CODING MODERATE None 0.45328 0.45330 0.35484 1.00 0.00 None None None None None None AOC1|0.017990966|75.29%
View cmt4 7 rs10156191
dbSNP Clinvar
150553605 263.23 C T PASS 0/1 28 NON_SYNONYMOUS_CODING MODERATE None 0.31290 0.31290 0.34375 0.32 0.00 None None None None None None AOC1|0.017990966|75.29%

ASB10

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 cmt4 7 rs2253592
dbSNP Clinvar
150878260 190.42 C G PASS 0/1 18 SYNONYMOUS_CODING LOW None 0.50379 0.50380 0.48337 None None None None None None ASB10|0.051312988|62.24%

ASB15

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 cmt4 7 rs4731112
dbSNP Clinvar
123269118 926.8 G C PASS 0/1 78 NON_SYNONYMOUS_CODING MODERATE None 0.79173 0.79170 0.28033 1.00 0.00 None None None None None None ASB15|0.249466416|31.55%
View cmt4 7 rs6962756
dbSNP Clinvar
123256427 326.63 C T PASS 0/1 21 NON_SYNONYMOUS_CODING MODERATE None 0.77935 0.77940 0.21463 0.71 0.00 None None None None None None ASB15|0.249466416|31.55%
View cmt4 7 rs11769381
dbSNP Clinvar
123264804 520.63 C T PASS 0/1 59 SYNONYMOUS_CODING LOW None 0.46965 0.46960 0.40997 None None None None None None ASB15|0.249466416|31.55%

ASIC3

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 cmt4 7 rs114024820
dbSNP Clinvar
150747896 151.75 C T PASS 0/1 17 NON_SYNONYMOUS_CODING MODERATE None 0.00379 0.00379 0.01000 1.00 0.05 None None None None None None ASIC3|0.064485136|58.73%

ASNS

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 cmt4 7 rs1049674
dbSNP Clinvar
97488569 778.2 A T PASS 0/1 51 NON_SYNONYMOUS_CODING MODERATE None 0.87600 0.87600 0.19922 1.00 0.00 None None None None None None ASNS|0.144831856|43.74%

ATG9B

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 cmt4 7 rs11393607,rs77573754
dbSNP Clinvar
150713902 630.99 G GC PASS 1/1 15 FRAME_SHIFT HIGH None 1.00000 1.00000 0.00099 None None None None None None ATG9B|0.090467592|53.12%

ATP6V0A4

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 cmt4 7 rs1026435
dbSNP Clinvar
138418910 168.59 G A PASS 0/1 23 SYNONYMOUS_CODING LOW None 0.71665 0.71670 0.31678 None None None None None None ATP6V0A4|0.084008171|54.41%
View cmt4 7 rs3807154
dbSNP Clinvar
138417718 195.32 A G PASS 0/1 21 SYNONYMOUS_CODING LOW None 0.67752 0.67750 0.36691 None None None None None None ATP6V0A4|0.084008171|54.41%

AVL9

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 cmt4 7 rs146342571
dbSNP Clinvar
32590951 516.33 G C PASS 0/1 33 SYNONYMOUS_CODING LOW None 0.00120 0.00120 0.00600 None None None None None None AVL9|0.207787031|35.83%

AZGP1

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 cmt4 7 rs4215
dbSNP Clinvar
99569394 506.42 G A PASS 0/1 57 SYNONYMOUS_CODING LOW None 0.37440 0.37440 0.30471 None None None None None None AZGP1|0.002916954|88.79%

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 cmt4 7 rs12728
dbSNP Clinvar
97922851 956.36 C T PASS 0/1 69 SYNONYMOUS_CODING LOW None 0.26617 0.26620 0.40128 None None None None None None BRI3|0.027011351|70.88%,BAIAP2L1|0.061821177|59.37%

BAZ1B

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 cmt4 7 rs2074754
dbSNP Clinvar
72891754 468.87 C T PASS 0/1 47 SYNONYMOUS_CODING LOW None 0.34764 0.34760 0.35192 None None None None None None BAZ1B|0.356018071|23.74%

BLVRA

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 cmt4 7 rs7738
dbSNP Clinvar
43846603 733.6 A G PASS 0/1 54 SYNONYMOUS_CODING LOW None 0.47504 0.47500 0.42926 None None None None None None BLVRA|0.055967808|60.91%
View cmt4 7 rs1131372
dbSNP Clinvar
43843423 1011.2 G A PASS 0/1 88 SYNONYMOUS_CODING LOW None 0.08986 0.08986 0.09150 None None None None None None BLVRA|0.055967808|60.91%
View cmt4 7 rs1802846
dbSNP Clinvar
43830888 438.57 T C PASS 0/1 40 SYNONYMOUS_CODING LOW None 0.10583 0.10580 0.10872 None None None None None None BLVRA|0.055967808|60.91%

BMPER

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 cmt4 7 rs77064045
dbSNP Clinvar
34125420 321.82 G T PASS 0/1 27 SYNONYMOUS_CODING LOW None 0.18930 0.18930 0.24727 None None None None None None BMPER|0.520309229|15%

C7orf34

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 cmt4 7 rs148010864
dbSNP Clinvar
142637601 1009.9 T C PASS 0/1 96 NON_SYNONYMOUS_CODING MODERATE None 0.00080 0.00080 0.00054 0.00 0.04 None None None None None None C7orf34|0.003312754|88.06%

C7orf62

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 cmt4 7 rs2293583
dbSNP Clinvar
88423881 210.54 T C PASS 0/1 18 NON_SYNONYMOUS_CODING MODERATE None 0.12161 0.12160 0.09065 0.44 0.01 None None None None None None ZNF804B|0.049032393|62.96%,C7orf62|0.010639048|80.41%

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 cmt4 7 rs1134956
dbSNP Clinvar
89938680 364.69 C T PASS 0/1 32 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.38059 0.38060 0.49745 0.00 1.00 None None None None None None CFAP69|0.131174602|45.73%
View cmt4 7 rs7803620
dbSNP Clinvar
89938588 158.7 C G PASS 0/1 24 NON_SYNONYMOUS_CODING MODERATE None 0.92213 0.92210 0.14475 1.00 0.00 None None None None None None CFAP69|0.131174602|45.73%
View cmt4 7 rs1029365
dbSNP Clinvar
89912301 377.12 G A PASS 0/1 25 NON_SYNONYMOUS_CODING MODERATE None 0.88419 0.88420 0.20474 0.69 0.00 None None None None None None CFAP69|0.131174602|45.73%

CADPS2

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 cmt4 7 rs2074589
dbSNP Clinvar
122078414 562.78 T G PASS 0/1 58 SYNONYMOUS_CODING LOW None 0.28415 0.28410 0.25834 None None None None None None CADPS2|0.856231857|4.53%

CALCR

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 cmt4 7 rs1801197
dbSNP Clinvar
93055753 1289.27 A G PASS 0/1 125 NON_SYNONYMOUS_CODING MODERATE None 0.54353 0.54350 0.32754 1.00 0.00 None None None None None None CALCR|0.129366689|45.96%

CALD1

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 cmt4 7 rs6973420
dbSNP Clinvar
134618710 163.25 A G PASS 0/1 30 NON_SYNONYMOUS_CODING MODERATE None 0.50839 0.50840 0.45041 0.51 0.00 None None None None None None CALD1|0.408108542|20.29%

CAMK2B

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 cmt4 7 rs11542228
dbSNP Clinvar
44282868 171.08 A G PASS 0/1 16 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.33566 0.33570 0.39905 None None None None None None CAMK2B|0.490715837|16.28%
View cmt4 7 rs11542227
dbSNP Clinvar
44282877 210.09 A G PASS 0/1 22 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.20986 0.20990 0.28149 None None None None None None CAMK2B|0.490715837|16.28%
View cmt4 7 rs1065359
dbSNP Clinvar
44259706 277.1 G A PASS 0/1 12 SYNONYMOUS_CODING LOW None 0.33906 0.33910 0.35082 None None None None None None CAMK2B|0.490715837|16.28%
View cmt4 7 rs1127065
dbSNP Clinvar
44259871 377.43 C T PASS 0/1 34 SYNONYMOUS_CODING LOW None 0.00779 0.00779 0.35960 None None None None None None CAMK2B|0.490715837|16.28%

CAPZA2

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 cmt4 7 rs4808
dbSNP Clinvar
116528240 157.73 C T PASS 0/1 20 SYNONYMOUS_CODING LOW None 0.32348 0.32350 0.27803 None None None None None None CAPZA2|0.765709241|6.73%

CCDC129

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 cmt4 7 rs67930674
dbSNP Clinvar
31611758 83.23 G T PASS 0/1 11 SYNONYMOUS_CODING LOW None 0.44109 0.44110 0.45141 None None None None None None CCDC129|0.005928551|84.65%

CCDC146

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 cmt4 7 rs58545343
dbSNP Clinvar
76903926 175.48 T C PASS 0/1 20 NON_SYNONYMOUS_CODING MODERATE None 0.03435 0.03435 0.03068 0.32 0.00 None None None None None None CCDC146|0.067335579|58.08%
View cmt4 7 rs148164233
dbSNP Clinvar
76903907 103.21 C T PASS 0/1 14 NON_SYNONYMOUS_CODING MODERATE None 0.00419 0.00419 0.00192 0.03 0.16 None None None None None None CCDC146|0.067335579|58.08%
View cmt4 7 rs17853516
dbSNP Clinvar
76889354 407.65 G C PASS 0/1 21 NON_SYNONYMOUS_CODING MODERATE None 0.09485 0.09485 0.08042 0.22 0.02 None None None None None None CCDC146|0.067335579|58.08%

CCL24

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 cmt4 7 rs2302006
dbSNP Clinvar
75442730 198.21 T G PASS 0/1 28 NON_SYNONYMOUS_CODING MODERATE None 0.34605 0.34600 0.22720 0.10 0.03 None None None None None None CCL24|0.001484572|92.84%

CCM2

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 cmt4 7 rs11552377
dbSNP Clinvar
45104131 283.86 G A PASS 0/1 25 NON_SYNONYMOUS_CODING MODERATE None 0.10803 0.10800 0.13517 0.32 0.03 4.57 0.01 0.27631 T None None None None CCM2|0.292416184|28.19%

CCT6A

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 cmt4 7 rs2230197
dbSNP Clinvar
56126360 404.31 T C PASS 0/1 32 SYNONYMOUS_CODING LOW None 0.64217 0.64220 0.33339 None None None None None None CCT6A|0.691817246|8.71%

CDHR3

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 cmt4 7 rs193795
dbSNP Clinvar
105621512 239.31 G T PASS 0/1 17 SYNONYMOUS_CODING LOW None 0.45807 0.45810 0.39305 None None None None None None CDHR3|0.030513758|69.17%

CHPF2

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 cmt4 7 rs2487154
dbSNP Clinvar
150934975 466.19 C G PASS 0/1 42 SYNONYMOUS_CODING LOW None 0.43351 0.43350 0.37033 None None None None None None CHPF2|0.166222872|40.78%
View cmt4 7 rs2608293
dbSNP Clinvar
150931268 423.99 C G PASS 0/1 26 SYNONYMOUS_CODING LOW None 0.44828 0.44830 0.38636 None None None None None None CHPF2|0.166222872|40.78%

CLCN1

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 cmt4 7 rs6962852
dbSNP Clinvar
143016928 1059.95 C T PASS 0/1 95 SYNONYMOUS_CODING LOW None 0.32288 0.32290 0.40797 None None None None None None CLCN1|0.158802473|41.75%
View cmt4 7 rs13438232
dbSNP Clinvar
143043240 378.35 C T PASS 0/1 30 NON_SYNONYMOUS_CODING MODERATE None 0.36941 0.36940 0.42327 0.18 0.01 None None None None None None CLCN1|0.158802473|41.75%
View cmt4 7 rs2272251
dbSNP Clinvar
143042837 142.61 C T PASS 0/1 9 SYNONYMOUS_CODING LOW None 0.47824 0.47820 0.39901 None None None None None None CLCN1|0.158802473|41.75%

CLDN15

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 cmt4 7 rs1047319
dbSNP Clinvar
100875772 203.41 T G PASS 0/1 14 SYNONYMOUS_CODING LOW None 0.22504 0.22500 0.21435 None None None None None None CLDN15|0.036641229|66.93%

CLIP2

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 cmt4 7 rs539518
dbSNP Clinvar
73753250 277.87 T C PASS 0/1 37 SYNONYMOUS_CODING LOW None 0.54153 0.54150 0.37104 None None None None None None CLIP2|0.116834309|47.98%
View cmt4 7 rs2522943
dbSNP Clinvar
73814749 753.16 G C PASS 0/1 49 NON_SYNONYMOUS_CODING MODERATE None 0.98882 0.98880 0.01784 1.00 0.00 None None None None None None CLIP2|0.116834309|47.98%

COBL

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 cmt4 7 rs142060269,rs58682836
dbSNP Clinvar
51098567 763.05 GTCT G PASS 0/1 55 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.34175 None None None None None None COBL|0.005288369|85.44%
View cmt4 7 rs801142
dbSNP Clinvar
51287470 2323.97 A G PASS 1/1 85 SYNONYMOUS_CODING LOW None 0.75639 0.75640 0.26042 None None None None None None COBL|0.005288369|85.44%
View cmt4 7 rs61737951
dbSNP Clinvar
51111340 467.11 C T PASS 0/1 36 SYNONYMOUS_CODING LOW None 0.00699 0.00699 0.01576 None None None None None None COBL|0.005288369|85.44%
View cmt4 7 rs2240089
dbSNP Clinvar
51096036 994.41 G C PASS 0/1 64 NON_SYNONYMOUS_CODING MODERATE None 0.20088 0.20090 0.15139 0.27 0.18 None None None None None None COBL|0.005288369|85.44%

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 cmt4 7 rs17349904
dbSNP Clinvar
106897237 137.43 A C PASS 0/1 21 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.12979 0.12980 0.15893 None None None None None None COG5|0.360996774|23.37%

COL1A2

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 cmt4 7 rs412777
dbSNP Clinvar
94041937 237.37 A C PASS 0/1 11 SYNONYMOUS_CODING LOW None 0.32728 0.32730 0.36106 None None None None None None COL1A2|0.875156049|4.09%
View cmt4 7 rs1800222
dbSNP Clinvar
94030899 396.93 T C PASS 0/1 32 SYNONYMOUS_CODING LOW None 0.30431 0.30430 0.25204 None None None None None None COL1A2|0.875156049|4.09%

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 cmt4 7 rs36008849,rs398095266
dbSNP Clinvar
101200669 865.85 A AG PASS 1/1 22 FRAME_SHIFT HIGH None 1.00000 1.00000 0.00137 None None None None None None COL26A1|0.059520302|60.03%

COL28A1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View cmt4 7 rs61744841
dbSNP Clinvar
7413149 540.23 T C PASS 0/1 60 SYNONYMOUS_CODING LOW None 0.10963 0.10960 0.12138 None None None None None None COL28A1|0.018844559|74.75%

CPA1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View cmt4 7 rs1126899
dbSNP Clinvar
130021488 244.21 G C PASS 0/1 21 SYNONYMOUS_CODING LOW None 0.58227 0.58230 0.44932 None None None None None None CPA1|0.074738378|56.36%

CPA4

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View cmt4 7 rs2171492
dbSNP Clinvar
129950740 1443.89 G T PASS 0/1 142 NON_SYNONYMOUS_CODING MODERATE None 0.31669 0.31670 0.33162 0.16 0.01 None None None None None None CPA4|0.082972512|54.59%