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
RS863225364 APC Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS863225365 APC Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial multiple polyposis syndrome
RS863225366 APC Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS863225367 APC Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS863225368 APC Health Risk Pathogenic/Likely pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS863225369 APC Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS863225370 APC Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS863225371 APC Health Risk Pathogenic/Likely pathogenic Familial multiple polyposis syndrome, Hereditary cancer-predisposing syndrome
RS863225372 APC Health Risk Likely pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS863225373 MLH1 Health Risk Pathogenic Colorectal cancer, hereditary nonpolyposis
RS863225376 MLH1 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Colorectal cancer
RS863225377 MLH1 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS863225378 MLH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS863225379 MLH1 Health Risk Pathogenic Colorectal cancer, hereditary nonpolyposis
RS863225380 MLH1 Health Risk Pathogenic Colorectal cancer, hereditary nonpolyposis
RS863225381 MLH1 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Colorectal cancer
RS863225382 MLH1 Health Risk Conflicting classifications of pathogenicity Carcinoma of colon, Hereditary cancer-predisposing syndrome
RS863225383 MLH1 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS863225384 MLH1 Health Risk Pathogenic/Likely pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS863225385 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS863225386 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Lynch syndrome 1
RS863225387 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Lynch syndrome 1
RS863225388 MSH2 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Lynch syndrome
RS863225389 MSH2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 1
RS863225390 MSH2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 1
RS863225391 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Lynch syndrome 1
RS863225392 MSH2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS863225393 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Lynch syndrome 1
RS863225394 MSH2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS863225395 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS863225396 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Lynch syndrome 1
RS863225397 MSH2 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS863225398 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colon cancer
RS863225399 MSH6 Health Risk Pathogenic Lynch syndrome 5, Hereditary nonpolyposis colorectal neoplasms
RS863225400 MSH6 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS863225401 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Carcinoma of colon
RS863225402 MSH6 Health Risk Pathogenic/Likely pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS863225403 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Lynch syndrome 5
RS863225404 MSH6 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS863225406 MSH6 Health Risk Pathogenic/Likely pathogenic Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome
RS863225408 MSH6 Health Risk Pathogenic/Likely pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS863225409 MSH6 Health Risk Pathogenic/Likely pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS863225412 MSH6 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS863225414 MSH6 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 5
RS863225416 MSH6 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 5
RS863225417 MSH6 Health Risk Pathogenic —
RS863225418 MSH6 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS863225421 MSH6 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS863225422 RNU4ATAC Health Risk Pathogenic/Likely pathogenic Roifman syndrome, Osteodysplastic primordial dwarfism
RS863225423 RNU4ATAC Health Risk Pathogenic/Likely pathogenic Roifman syndrome, Osteodysplastic primordial dwarfism
RS863225425 TCTN2 Health Risk Pathogenic Joubert syndrome 24, Joubert syndrome 24
RS863225426 TCTN2 Health Risk Pathogenic Joubert syndrome 24, Joubert syndrome
RS863225427 NAA10 Health Risk Likely pathogenic Ogden syndrome, Ogden syndrome
RS863225428 CCDC22 Health Risk Pathogenic Ritscher-Schinzel syndrome 2, Ritscher-Schinzel syndrome 1
RS863225429 CCDC22 Health Risk Pathogenic Ritscher-Schinzel syndrome 2, Ritscher-Schinzel syndrome 1
RS863225431 AIFM1 Health Risk Likely pathogenic Deafness, X-linked 5
RS863225432 AIFM1 Health Risk Pathogenic Deafness, X-linked 5
RS863225434 HEXA Health Risk Pathogenic Tay-Sachs disease, Tay-Sachs disease
RS863225435 CHRDL1 Health Risk Pathogenic Megalocornea, Megalocornea
RS863225436 TFRC Health Risk Conflicting classifications of pathogenicity Combined immunodeficiency, TFRC-related combined immunodeficiency
RS863225437 MAP3K20 Health Risk Pathogenic Split hand-foot malformation 1, Split-foot malformation-mesoaxial polydactyly syndrome
RS863225438 HSD17B4 Health Risk Pathogenic/Likely pathogenic Bifunctional peroxisomal enzyme deficiency, Bifunctional peroxisomal enzyme deficiency
RS863225439 SPG11 Health Risk Pathogenic Charcot-Marie-Tooth disease axonal type 2X, Hereditary spastic paraplegia 11
RS863225440 SPG11 Health Risk Pathogenic Charcot-Marie-Tooth disease axonal type 2X, Hereditary spastic paraplegia 11
RS863225441 MRE11 Health Risk association Triple-negative breast cancer, Triple-negative breast cancer
RS863225443 LRPPRC Health Risk Pathogenic Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
RS863225444 LRPPRC Health Risk Pathogenic Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
RS863225445 LRPPRC Health Risk Pathogenic/Likely pathogenic Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
RS863225446 LRPPRC Health Risk Likely pathogenic Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
RS863225447 SLC13A5 Health Risk Pathogenic Developmental and epileptic encephalopathy, 25
RS863225448 SLC13A5 Health Risk Pathogenic Developmental and epileptic encephalopathy, 25
RS863225449 PNPT1 Health Risk Pathogenic Combined oxidative phosphorylation defect type 13, Combined oxidative phosphorylation defect type 13
RS863225450 FOXL2 Health Risk Pathogenic BLEPHAROPHIMOSIS, PTOSIS
RS863225451 FOXL2 Health Risk Pathogenic BLEPHAROPHIMOSIS, PTOSIS
RS863225452 FOXL2 Health Risk Pathogenic/Likely pathogenic BLEPHAROPHIMOSIS, PTOSIS
RS863225453 FOXL2 Health Risk Pathogenic BLEPHAROPHIMOSIS, PTOSIS
RS863225454 POLK Health Risk Conflicting classifications of pathogenicity Prostate cancer, Prostate cancer
RS863225455 POLK Health Risk Pathogenic Prostate cancer, Prostate cancer
RS863225456 POLK Health Risk Pathogenic Prostate cancer, Prostate cancer
RS863225457 POLK Health Risk Pathogenic Prostate cancer, Prostate cancer
RS863225458 SMC1A Health Risk Pathogenic Congenital muscular hypertrophy-cerebral syndrome, Developmental and epileptic encephalopathy
RS863225459 SMC1A Health Risk Pathogenic Congenital muscular hypertrophy-cerebral syndrome, Developmental and epileptic encephalopathy
RS863225460 PIK3CA Health Risk Pathogenic Megalencephaly-capillary malformation-polymicrogyria syndrome, Megalencephaly-capillary malformation-polymicrogyria syndrome
RS863225461 SLC4A1 Health Risk Pathogenic Cryohydrocytosis, Cryohydrocytosis
RS863225463 SLC4A1 Health Risk Pathogenic Cryohydrocytosis, Cryohydrocytosis
RS863225464 STIL Health Risk Likely pathogenic Microcephaly 7, primary
RS863225465 ANKLE2 Health Risk Likely pathogenic Microcephaly 16, primary
RS863225466 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS863225467 PTCH1 Health Risk Pathogenic Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS863225468 RHAG Health Risk Pathogenic Overhydrated hereditary stomatocytosis, Overhydrated hereditary stomatocytosis
RS863225469 RHAG Health Risk Pathogenic Overhydrated hereditary stomatocytosis, Overhydrated hereditary stomatocytosis
RS864309477 COL11A2 Health Risk Pathogenic Otospondylomegaepiphyseal dysplasia, autosomal dominant
RS864309478 SLC2A10 Health Risk Pathogenic Arterial tortuosity syndrome, Arterial tortuosity syndrome
RS864309481 SLC2A10 Health Risk Pathogenic Arterial tortuosity syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS864309483 ADCY5 Health Risk Likely pathogenic Dyskinesia with orofacial involvement, autosomal dominant
RS864309484 ADCY5 Health Risk Pathogenic Dyskinesia with orofacial involvement, autosomal dominant
RS864309485 TEX15 Health Risk Pathogenic Oligosynaptic infertility, Spermatogenic failure 25
RS864309486 GMNN Health Risk Pathogenic Meier-Gorlin syndrome, Meier-Gorlin syndrome 6
RS864309487 GMNN Health Risk Pathogenic Meier-Gorlin syndrome, Meier-Gorlin syndrome 6
RS864309488 GMNN Health Risk Likely pathogenic Meier-Gorlin syndrome, Meier-Gorlin syndrome 6
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