SNP Directory

450,817 genetic variants in our database.

All (450,817) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS1555510880 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1555511093 GAN Health Risk Pathogenic Giant axonal neuropathy 1, Giant axonal neuropathy 1
RS1555511101 GAN Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1555511352 TSC2 Health Risk Pathogenic Tuberous sclerosis syndrome, Tuberous sclerosis syndrome
RS1555511585 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS1555511663 TSC2 Health Risk Likely pathogenic Tuberous sclerosis syndrome, Tuberous sclerosis 2
RS1555511861 GAN Health Risk Pathogenic Giant axonal neuropathy 1, Giant axonal neuropathy 1
RS1555511978 GAN Health Risk Pathogenic/Likely pathogenic Giant axonal neuropathy 1, See cases
RS1555512179 PARN Health Risk Pathogenic Dyskeratosis congenita, autosomal recessive 6
RS1555512330 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS1555512419 ABCC6 Health Risk Likely pathogenic Autosomal recessive inherited pseudoxanthoma elasticum, Autosomal recessive inherited pseudoxanthoma elasticum
RS1555512486 TSC2 Health Risk Pathogenic/Likely pathogenic Tuberous sclerosis 2, TSC2-related disorder
RS1555512497 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1555512548 TSC2 Health Risk Likely pathogenic —
RS1555512582 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1555512658 KARS1 Health Risk Pathogenic Deafness, congenital
RS1555513085 ABCC6 Health Risk Likely pathogenic Autosomal recessive inherited pseudoxanthoma elasticum, Autosomal recessive inherited pseudoxanthoma elasticum
RS1555513222 ABCC6 Health Risk Likely pathogenic Autosomal recessive inherited pseudoxanthoma elasticum, Autosomal recessive inherited pseudoxanthoma elasticum
RS1555513513 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1555513581 ABCC6 Health Risk Likely pathogenic Autosomal recessive inherited pseudoxanthoma elasticum, Autosomal recessive inherited pseudoxanthoma elasticum
RS1555513911 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Lymphangiomyomatosis
RS1555513920 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1555514034 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS1555514063 TSC2 Health Risk Pathogenic —
RS1555514071 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1555514179 TSC2 Health Risk Pathogenic —
RS1555514354 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS1555514397 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1555514406 CDH1 Health Risk Pathogenic Hereditary diffuse gastric adenocarcinoma, CDH1-related diffuse gastric and lobular breast cancer syndrome
RS1555514408 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary diffuse gastric adenocarcinoma, Hereditary cancer-predisposing syndrome
RS1555514410 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma
RS1555514429 CDH1 Health Risk Pathogenic Hereditary diffuse gastric adenocarcinoma, Hereditary cancer-predisposing syndrome
RS1555514439 ABCC6 Health Risk Likely pathogenic Autosomal recessive inherited pseudoxanthoma elasticum, Autosomal recessive inherited pseudoxanthoma elasticum
RS1555514463 CDH11 Health Risk Pathogenic Elsahy-Waters syndrome, Elsahy-Waters syndrome
RS1555514464 CDH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma
RS1555514467 ABCC6 Health Risk Likely pathogenic Autosomal recessive inherited pseudoxanthoma elasticum, Autosomal recessive inherited pseudoxanthoma elasticum
RS1555514476 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary diffuse gastric adenocarcinoma, Hereditary cancer-predisposing syndrome
RS1555514491 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary diffuse gastric adenocarcinoma, Hereditary cancer-predisposing syndrome
RS1555514492 CDH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma
RS1555514548 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS1555514870 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1555514927 ABCC6 Health Risk Likely pathogenic Autosomal recessive inherited pseudoxanthoma elasticum, Autosomal recessive inherited pseudoxanthoma elasticum
RS1555514984 TSC2 Health Risk Pathogenic/Likely pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS1555515189 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma
RS1555515197 CDH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma
RS1555515210 CDH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, CDH1-related diffuse gastric and lobular breast cancer syndrome
RS1555515214 CDH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, CDH1-related diffuse gastric and lobular breast cancer syndrome
RS1555515215 CDH1 Health Risk Pathogenic Hereditary diffuse gastric adenocarcinoma, CDH1-related diffuse gastric and lobular breast cancer syndrome
RS1555515217 CDH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma
RS1555515232 CDH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, CDH1-related diffuse gastric and lobular breast cancer syndrome
RS1555515248 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma
RS1555515264 CDH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, CDH1-related diffuse gastric and lobular breast cancer syndrome
RS1555515280 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary diffuse gastric adenocarcinoma, Hereditary cancer-predisposing syndrome
RS1555515284 CDH1 Health Risk Pathogenic Hereditary diffuse gastric adenocarcinoma, CDH1-related diffuse gastric and lobular breast cancer syndrome
RS1555515296 CDH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Gastric cancer
RS1555515331 CDH11 Health Risk Pathogenic Elsahy-Waters syndrome, Elsahy-Waters syndrome
RS1555515434 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma
RS1555515435 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Tuberous sclerosis 2
RS1555515441 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary diffuse gastric adenocarcinoma, Hereditary cancer-predisposing syndrome
RS1555515445 CDH1 Health Risk Conflicting classifications of pathogenicity Blepharocheilodontic syndrome 1, Cleft lip with or without cleft palate
RS1555515456 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary diffuse gastric adenocarcinoma, Hereditary cancer-predisposing syndrome
RS1555515469 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma
RS1555515470 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma
RS1555515558 ATP2A1 Health Risk Pathogenic Brody myopathy, Brody myopathy
RS1555515596 CDH1 Health Risk Likely pathogenic Hereditary diffuse gastric adenocarcinoma, CDH1-related diffuse gastric and lobular breast cancer syndrome
RS1555515624 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma
RS1555515629 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma
RS1555515644 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma
RS1555515662 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1555515721 CDH1 Health Risk Pathogenic CDH1-related diffuse gastric and lobular breast cancer syndrome, CDH1-related diffuse gastric and lobular breast cancer syndrome
RS1555515726 CDH1 Health Risk Pathogenic Hereditary diffuse gastric adenocarcinoma, CDH1-related diffuse gastric and lobular breast cancer syndrome
RS1555515731 CDH1 Health Risk Pathogenic Hereditary diffuse gastric adenocarcinoma, Hereditary cancer-predisposing syndrome
RS1555515739 CDH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma
RS1555515740 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma
RS1555515758 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma
RS1555515863 CDH1 Health Risk Pathogenic Hereditary diffuse gastric adenocarcinoma, Hereditary cancer-predisposing syndrome
RS1555515870 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary diffuse gastric adenocarcinoma, Hereditary cancer-predisposing syndrome
RS1555515877 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma
RS1555515891 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma
RS1555515920 CDH1 Health Risk Pathogenic CDH1-related diffuse gastric and lobular breast cancer syndrome, Hereditary diffuse gastric adenocarcinoma
RS1555515924 CDH11 Health Risk Pathogenic Elsahy-Waters syndrome, Elsahy-Waters syndrome
RS1555515925 CDH1 Health Risk Likely pathogenic Blepharocheilodontic syndrome 1, Hereditary diffuse gastric adenocarcinoma
RS1555516036 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1555516089 CDH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, CDH1-related diffuse gastric and lobular breast cancer syndrome
RS1555516111 CDH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, CDH1-related diffuse gastric and lobular breast cancer syndrome
RS1555516137 CDH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, CDH1-related diffuse gastric and lobular breast cancer syndrome
RS1555516147 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary diffuse gastric adenocarcinoma, Hereditary cancer-predisposing syndrome
RS1555516170 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma
RS1555516191 CDH1 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1555516200 CDH1 Health Risk Pathogenic/Likely pathogenic Hereditary diffuse gastric adenocarcinoma, Hereditary cancer-predisposing syndrome
RS1555516202 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma
RS1555516509 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma
RS1555516521 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary diffuse gastric adenocarcinoma, Hereditary cancer-predisposing syndrome
RS1555516532 CDH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma
RS1555516535 CDH1 Health Risk Pathogenic Hereditary diffuse gastric adenocarcinoma, CDH1-related diffuse gastric and lobular breast cancer syndrome
RS1555516545 CDH1 Health Risk Pathogenic Hereditary diffuse gastric adenocarcinoma, CDH1-related diffuse gastric and lobular breast cancer syndrome
RS1555516556 CDH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, CDH1-related diffuse gastric and lobular breast cancer syndrome
RS1555516567 CDH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma
RS1555516597 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma
RS1555516628 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
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