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
RS886039400 KRIT1 Health Risk Pathogenic Cerebral cavernous malformation, Hereditary cavernous hemangioma of brain
RS886039401 KRIT1 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS886039402 KRIT1 Health Risk Pathogenic Cerebral cavernous malformation, KRIT1-related disorder
RS886039403 KRT5 Health Risk Pathogenic Epidermolysis bullosa simplex 2A, generalized severe
RS886039404 L1CAM Health Risk Pathogenic —
RS886039405 L1CAM Health Risk Pathogenic/Likely pathogenic Spastic paraplegia, L1 syndrome
RS886039406 L1CAM Health Risk Pathogenic/Likely pathogenic Spastic paraplegia, L1 syndrome
RS886039407 L1CAM Health Risk Pathogenic X-linked hydrocephalus syndrome, Spastic paraplegia
RS886039408 L1CAM Health Risk Pathogenic/Likely pathogenic Spastic paraplegia, L1 syndrome
RS886039409 L1CAM Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS886039410 L1CAM Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS886039411 L1CAM Health Risk Pathogenic —
RS886039412 LAMA3 Health Risk Pathogenic LAMA3-related disorder, Epidermolysis bullosa
RS886039413 MEN1 Health Risk Pathogenic Multiple endocrine neoplasia, type 1
RS886039414 MEN1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia
RS886039415 MEN1 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia
RS886039416 MEN1 Health Risk Pathogenic Multiple endocrine neoplasia, type 1
RS886039418 MEN1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia
RS886039419 MEN1 Health Risk Pathogenic Multiple endocrine neoplasia, type 1
RS886039420 MEN1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS886039421 MEN1 Health Risk Pathogenic Multiple endocrine neoplasia, type 1
RS886039422 MERTK Health Risk Pathogenic Autosomal recessive retinitis pigmentosa, Retinitis pigmentosa 38
RS886039423 MLH1 Health Risk Pathogenic Colorectal cancer, hereditary nonpolyposis
RS886039424 MLH1 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS886039425 MMADHC Health Risk Pathogenic Methylmalonic aciduria and homocystinuria type cblD, Cobalamin C disease
RS886039427 MYCN Health Risk Pathogenic —
RS886039428 MYCN Health Risk Pathogenic —
RS886039429 NFIA Health Risk Conflicting classifications of pathogenicity Brain malformations with or without urinary tract defects, Inborn genetic diseases
RS886039430 SCN1A Health Risk Pathogenic Migraine, familial hemiplegic
RS886039432 SETD5 Health Risk Pathogenic Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency, Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
RS886039433 SRD5A3 Health Risk Likely pathogenic —
RS886039434 STAT3 Health Risk Pathogenic/Likely pathogenic Hyper-IgE syndrome, STAT3 gain of function
RS886039435 STXBP1 Health Risk Likely pathogenic Infantile epilepsy syndrome, Early-infantile DEE
RS886039436 TCTN1 Health Risk Pathogenic/Likely pathogenic Joubert syndrome 13, Lung cancer
RS886039437 TERC Health Risk Likely pathogenic —
RS886039438 TERT Health Risk Likely pathogenic Idiopathic Pulmonary Fibrosis, Dyskeratosis congenita
RS886039439 TMEM127 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary pheochromocytoma and paraganglioma
RS886039440 TNNC1 Health Risk Likely pathogenic —
RS886039442 TP63 Health Risk Likely pathogenic TP63-Related Spectrum Disorders, Split hand-foot malformation 4
RS886039443 TP63 Health Risk Conflicting classifications of pathogenicity TP63-Related Spectrum Disorders, TP63-Related Spectrum Disorders
RS886039445 TRIM37 Health Risk Likely pathogenic —
RS886039446 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS886039447 BPHL;TUBB2A Health Risk Pathogenic/Likely pathogenic Complex cortical dysplasia with other brain malformations 5, Complex cortical dysplasia with other brain malformations 5
RS886039448 UBE3A Health Risk Pathogenic —
RS886039449 USH2A Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Usher syndrome type 2A
RS886039450 USH2A Health Risk Pathogenic Usher syndrome, Usher syndrome type 2A
RS886039451 WAS Health Risk Pathogenic Thrombocytopenia 1, Wiskott-Aldrich syndrome
RS886039453 WNT10A Health Risk Pathogenic Odonto-onycho-dermal dysplasia, Tooth agenesis
RS886039454 WNT10A Health Risk Pathogenic Tooth agenesis, selective
RS886039455 SCN5A Health Risk Likely pathogenic —
RS886039456 SCN1A Health Risk Conflicting classifications of pathogenicity Migraine, familial hemiplegic
RS886039457 SCN1A Health Risk Likely pathogenic —
RS886039458 RYR2 Health Risk Likely pathogenic —
RS886039460 SCN1A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Early-infantile DEE
RS886039461 SCN2A Health Risk Likely pathogenic —
RS886039463 PTPN11 Health Risk Pathogenic/Likely pathogenic Noonan syndrome 1, Non-immune hydrops fetalis
RS886039464 SCN1A Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy 6B, Developmental and epileptic encephalopathy 6B
RS886039465 AHI1 Health Risk Pathogenic/Likely pathogenic Joubert syndrome 3, Joubert syndrome 3
RS886039466 EDA Health Risk Pathogenic —
RS886039467 EFTUD2 Health Risk Pathogenic —
RS886039468 NIPBL Health Risk Pathogenic —
RS886039469 KCNMA1 Health Risk Pathogenic Generalized epilepsy-paroxysmal dyskinesia syndrome, Generalized epilepsy-paroxysmal dyskinesia syndrome
RS886039470 TUBB4A Health Risk Pathogenic/Likely pathogenic Hypomyelinating leukodystrophy 6, Inborn genetic diseases
RS886039472 ACTB Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Baraitser-Winter syndrome 1
RS886039473 GPC3 Health Risk Pathogenic —
RS886039474 CASK Health Risk Pathogenic —
RS886039476 UBE3A Health Risk Pathogenic —
RS886039477 ANKRD11 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, KBG syndrome
RS886039478 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Cardiomyopathy
RS886039479 PALB2 Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS886039480 PALB2 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Fanconi anemia
RS886039481 PEX2 Health Risk Likely pathogenic —
RS886039482 LAMA2 Health Risk Pathogenic Merosin deficient congenital muscular dystrophy, LAMA2-related muscular dystrophy
RS886039483 TP53 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome
RS886039484 TP53 Health Risk Conflicting classifications of pathogenicity Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome
RS886039485 KCNQ2 Health Risk Pathogenic —
RS886039486 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Exostoses
RS886039487 PLP1 Health Risk Pathogenic —
RS886039488 ATM Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS886039489 GPC3 Health Risk Pathogenic Simpson-Golabi-Behmel syndrome type 1, Simpson-Golabi-Behmel syndrome type 1
RS886039490 RXYLT1 Health Risk Pathogenic/Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a
RS886039491 CREBBP Health Risk Pathogenic Menke-Hennekam syndrome 1, Menke-Hennekam syndrome
RS886039492 FBN1 Health Risk Pathogenic/Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS886039493 ATRX Health Risk Pathogenic —
RS886039494 GNAO1 Health Risk Pathogenic Neurodevelopmental disorder with involuntary movements, Inborn genetic diseases
RS886039495 TP53 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome
RS886039496 LGI1 Health Risk Likely pathogenic Seizure, DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 121
RS886039497 TUBB3 Health Risk Likely pathogenic Complex cortical dysplasia with other brain malformations 1, Complex cortical dysplasia with other brain malformations 1
RS886039499 HEXB Health Risk Pathogenic Sandhoff disease, Sandhoff disease
RS886039500 DNAH5 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS886039501 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS886039502 ATM Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS886039503 PALB2 Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS886039504 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS886039505 ENG Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS886039506 ENG Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS886039507 APC Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS886039508 APC Health Risk Likely pathogenic Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome
RS886039509 APC Health Risk Pathogenic/Likely pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS886039510 APC Health Risk Likely pathogenic —
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