SNP Directory

400,964 genetic variants in our database.

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All (400,964) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS879254183 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS879254189 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS879254190 ATM Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS879254192 GDAP1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4A, Charcot-Marie-Tooth disease axonal type 2K
RS879254193 PALB2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS879254195 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS879254197 PALB2 Health Risk Pathogenic/Likely pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS879254198 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS879254199 ATM Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS879254202 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS879254204 MSH2 Health Risk Pathogenic —
RS879254210 MFN2 Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS879254212 TP53 Health Risk Pathogenic Li-Fraumeni syndrome 1, TP53-related disorder
RS879254214 TP53 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome
RS879254223 BRCA1 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS879254224 BRCA1 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS879254225 VHL Health Risk Conflicting classifications of pathogenicity Von Hippel-Lindau syndrome, Chuvash polycythemia
RS879254226 APC Health Risk Pathogenic/Likely pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS879254228 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS879254232 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS879254233 TP53 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome
RS879254234 MSH2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 1
RS879254236 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS879254237 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS879254239 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS879254241 CDK4 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial melanoma
RS879254242 ATM Health Risk Pathogenic/Likely pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS879254247 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS879254249 TP53 Health Risk Pathogenic Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome
RS879254253 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, MSH2-related disorder
RS879254257 MUTYH Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS879254264 BARD1 Health Risk Likely pathogenic Familial cancer of breast, Familial cancer of breast
RS879254266 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS879254267 DYNC1H1 Health Risk Pathogenic/Likely pathogenic DYNC1H1-related disorder, DYNC1H1-related disorder
RS879254271 ATM Health Risk Likely pathogenic —
RS879254272 BMPR1A Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Juvenile polyposis syndrome
RS879254278 EGR2 Health Risk Pathogenic —
RS879254280 BARD1 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS879254281 ATM Health Risk Pathogenic/Likely pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS879254283 APC Health Risk Likely pathogenic Familial multiple polyposis syndrome, Familial multiple polyposis syndrome
RS879254284 DYNC1H1 Health Risk Likely pathogenic —
RS879254286 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Intellectual disability
RS879254289 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS879254290 NDRG1 Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4D
RS879254294 SPTLC1 Health Risk Pathogenic Amyotrophic lateral sclerosis 27, juvenile
RS879254297 MPZ Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, type I
RS879254300 DNM2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease dominant intermediate B, Charcot-Marie-Tooth disease dominant intermediate B
RS879254305 SLC52A2 Health Risk Pathogenic/Likely pathogenic Brown-Vialetto-van Laere syndrome 2, Brown-Vialetto-van Laere syndrome 2
RS879254306 INF2 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E
RS879254308 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Charcot-Marie-Tooth disease axonal type 2O
RS879254311 WNK1 Health Risk Pathogenic/Likely pathogenic Pseudohypoaldosteronism type 2C, Neuropathy
RS879254316 SH3TC2 Health Risk Likely pathogenic —
RS879254317 SH3TC2 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4C, Susceptibility to mononeuropathy of the median nerve
RS879254319 LMNA Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS879254322 KIF1A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 30, Neuropathy
RS879254329 FANCB Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia
RS879254332 MET Health Risk Conflicting classifications of pathogenicity Renal cell carcinoma, Autosomal recessive nonsyndromic hearing loss 97
RS879254334 MET Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Renal cell carcinoma
RS879254342 MET Health Risk Conflicting classifications of pathogenicity Renal cell carcinoma, Hereditary cancer-predisposing syndrome
RS879254352 DSP Health Risk Pathogenic Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS879254353 DSP Health Risk Pathogenic/Likely pathogenic Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS879254358 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS879254363 LDLR Health Risk Likely pathogenic Hypercholesterolemia, familial
RS879254365 LDLR Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS879254367 LDLR Health Risk Pathogenic/Likely pathogenic Hypercholesterolemia, familial
RS879254368 LDLR Health Risk Likely pathogenic Hypercholesterolemia, familial
RS879254371 LDLR Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS879254374 LDLR Health Risk Pathogenic/Likely pathogenic Hypercholesterolemia, familial
RS879254375 LDLR Health Risk Pathogenic/Likely pathogenic Hypercholesterolemia, familial
RS879254382 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS879254383 LDLR Health Risk Likely pathogenic Hypercholesterolemia, familial
RS879254384 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS879254385 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS879254386 LDLR Health Risk Pathogenic/Likely pathogenic Hypercholesterolemia, familial
RS879254387 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS879254388 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS879254390 LDLR Health Risk Likely pathogenic Hypercholesterolemia, familial
RS879254392 LDLR Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS879254393 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS879254394 LDLR Health Risk Pathogenic/Likely pathogenic Hypercholesterolemia, familial
RS879254395 LDLR Health Risk Likely pathogenic Hypercholesterolemia, familial
RS879254396 LDLR Health Risk Pathogenic/Likely pathogenic Hypercholesterolemia, familial
RS879254397 LDLR Health Risk Pathogenic/Likely pathogenic Hypercholesterolemia, familial
RS879254398 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS879254399 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS879254400 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS879254401 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS879254402 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS879254403 LDLR Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS879254404 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS879254405 LDLR Health Risk Pathogenic/Likely pathogenic Hypercholesterolemia, familial
RS879254406 LDLR Health Risk Likely pathogenic Hypercholesterolemia, familial
RS879254407 LDLR Health Risk Likely pathogenic Hypercholesterolemia, familial
RS879254408 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS879254409 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS879254410 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS879254411 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS879254412 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS879254413 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS879254414 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
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