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
RS2538246190 PTCH1 Health Risk Likely pathogenic Gorlin syndrome, Gorlin syndrome
RS2538247234 PTCH1 Health Risk Likely pathogenic PTCH1-related disorder, PTCH1-related disorder
RS2538247585 PTCH1 Health Risk Likely pathogenic Gorlin syndrome, Gorlin syndrome
RS2538247904 PTCH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Gorlin syndrome
RS2538247942 PTCH1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2538248041 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS2538248061 PTCH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2538250094 ARID1B Health Risk Pathogenic —
RS2538250313 ARID1B Health Risk Pathogenic Coffin-Siris syndrome 1, Coffin-Siris syndrome 1
RS2538255284 VPS13A Health Risk Pathogenic —
RS2538255928 VPS13A Health Risk Pathogenic —
RS2538255976 VPS13A Health Risk Likely pathogenic —
RS2538258854 KIF1A Health Risk Pathogenic Intellectual disability, autosomal dominant 9
RS2538259164 KIF1A Health Risk Pathogenic/Likely pathogenic Neuropathy, hereditary sensory
RS2538266790 PTCH1 Health Risk Likely pathogenic Gorlin syndrome, Gorlin syndrome
RS2538268224 PTCH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2538269188 PTCH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2538269645 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS2538270047 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS2538277509 IKZF1 Health Risk Likely pathogenic Acute lymphoid leukemia, Acute lymphoid leukemia
RS2538277599 KIF1A Health Risk Pathogenic Neuropathy, hereditary sensory
RS2538278006 KIF1A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 30, Hereditary spastic paraplegia 30
RS2538289835 DOCK8 Health Risk Pathogenic Combined immunodeficiency due to DOCK8 deficiency, Combined immunodeficiency due to DOCK8 deficiency
RS2538292726 AGTPBP1 Health Risk Pathogenic Neurodegeneration, childhood-onset
RS2538293259 LAMC3 Health Risk Pathogenic —
RS2538293436 LAMC3 Health Risk Pathogenic —
RS2538296087 DOCK8 Health Risk Pathogenic Combined immunodeficiency due to DOCK8 deficiency, Combined immunodeficiency due to DOCK8 deficiency
RS2538300291 LAMC3 Health Risk Likely pathogenic —
RS2538301349 LAMC3 Health Risk Likely pathogenic —
RS2538304207 LAMC3 Health Risk Pathogenic —
RS2538308956 LAMC3 Health Risk Pathogenic —
RS2538309346 TRPM3 Health Risk Likely pathogenic —
RS2538309390 KIF1A Health Risk Pathogenic Neuropathy, hereditary sensory and autonomic
RS2538309429 KIF1A Health Risk Likely pathogenic Hereditary spastic paraplegia 30, Hereditary spastic paraplegia 30
RS2538309608 LAMC3 Health Risk Pathogenic Occipital pachygyria and polymicrogyria, Occipital pachygyria and polymicrogyria
RS2538309680 TRPM3 Health Risk Likely pathogenic —
RS2538311164 VPS13A Health Risk Likely pathogenic Chorea-acanthocytosis, Chorea-acanthocytosis
RS2538311239 VPS13A Health Risk Likely pathogenic Chorea-acanthocytosis, Chorea-acanthocytosis
RS2538311353 AUH Health Risk Pathogenic 3-methylglutaconic aciduria type 1, 3-methylglutaconic aciduria type 1
RS2538314828 LAMC3 Health Risk Likely pathogenic —
RS2538317743 VPS13A Health Risk Pathogenic Chorea-acanthocytosis, Chorea-acanthocytosis
RS2538317999 MAN1B1 Health Risk Pathogenic Rafiq syndrome, Rafiq syndrome
RS2538318041 VPS13A Health Risk Pathogenic —
RS2538318251 VPS13A Health Risk Pathogenic —
RS2538321424 LAMC3 Health Risk Pathogenic —
RS2538321561 FSD1L Health Risk Pathogenic Hydrocephalus, nonsyndromic
RS2538323935 VPS13A Health Risk Likely pathogenic —
RS2538333097 MAN1B1 Health Risk Likely pathogenic Rafiq syndrome, Rafiq syndrome
RS2538339133 MAN1B1 Health Risk Pathogenic Rafiq syndrome, Rafiq syndrome
RS2538340189 DOCK8 Health Risk Pathogenic Combined immunodeficiency due to DOCK8 deficiency, Combined immunodeficiency due to DOCK8 deficiency
RS2538344178 DBH Health Risk Pathogenic Orthostatic hypotension 1, Orthostatic hypotension 1
RS2538344277 DBH Health Risk Pathogenic Orthostatic hypotension 1, Orthostatic hypotension 1
RS2538355363 ARID1B Health Risk Pathogenic Coffin-Siris syndrome 1, Coffin-Siris syndrome 1
RS2538357710 EHMT1 Health Risk Likely pathogenic Kleefstra syndrome 1, Kleefstra syndrome 1
RS2538359006 EHMT1 Health Risk Conflicting classifications of pathogenicity Kleefstra syndrome 1, Kleefstra syndrome 1
RS2538367162 DOCK8 Health Risk Pathogenic Combined immunodeficiency due to DOCK8 deficiency, Combined immunodeficiency due to DOCK8 deficiency
RS2538378769 BBS9 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS2538381518 PTCH1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2538382746 PTCH1 Health Risk Pathogenic Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS2538383374 PTCH1 Health Risk Likely pathogenic Gorlin syndrome, Gorlin syndrome
RS2538383618 PTCH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2538384504 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS2538384541 RET Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2538384730 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS2538396993 DNAAF11 Health Risk Pathogenic Primary ciliary dyskinesia 19, Primary ciliary dyskinesia 19
RS2538402891 RET Health Risk Likely pathogenic RET-related disorder, RET-related disorder
RS2538402944 PTCH1 Health Risk Likely pathogenic PTCH1-related disorder, PTCH1-related disorder
RS2538403940 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS2538404690 RET Health Risk Pathogenic Multiple endocrine neoplasia, type 2
RS2538404853 RET Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2538405579 RET Health Risk Pathogenic Multiple endocrine neoplasia, type 2
RS2538412984 ARID1B Health Risk Likely pathogenic —
RS2538413303 EHMT1 Health Risk Pathogenic EHMT1-related disorder, EHMT1-related disorder
RS2538417680 NUP214 Health Risk Likely pathogenic Encephalopathy, acute
RS2538420158 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS2538423470 RET Health Risk Pathogenic Multiple endocrine neoplasia, type 2
RS2538424730 RET Health Risk Pathogenic Multiple endocrine neoplasia, type 2
RS2538427518 SPTLC1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS2538436610 KIF1A Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 9
RS2538437439 KIF1A Health Risk Pathogenic —
RS2538437589 KIF1A Health Risk Likely pathogenic Neuropathy, hereditary sensory
RS2538439290 KIF1A Health Risk Pathogenic Hereditary spastic paraplegia 30, Neuropathy
RS2538445870 MAN1B1 Health Risk Likely pathogenic Rafiq syndrome, Rafiq syndrome
RS2538448383 TJP2 Health Risk Pathogenic/Likely pathogenic Cholestasis, progressive familial intrahepatic
RS2538450938 TJP2 Health Risk Pathogenic —
RS2538453573 TJP2 Health Risk Likely pathogenic —
RS2538454150 MAN1B1 Health Risk Likely pathogenic Rafiq syndrome, Rafiq syndrome
RS2538460738 RET Health Risk Likely pathogenic Multiple endocrine neoplasia, type 2
RS2538462644 KIF1A Health Risk Likely pathogenic KIF1A-related disorder, KIF1A-related disorder
RS2538469417 MPDZ Health Risk Pathogenic —
RS2538470328 RET Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Familial medullary thyroid carcinoma
RS2538470959 PBX3 Health Risk Likely pathogenic X-linked cone-rod dystrophy, X-linked cone-rod dystrophy
RS2538471466 RET Health Risk Pathogenic Multiple endocrine neoplasia, type 2
RS2538473355 TSC1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 1
RS2538474549 MPDZ Health Risk Likely pathogenic —
RS2538477691 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS2538478744 TSC1 Health Risk Conflicting classifications of pathogenicity Isolated focal cortical dysplasia type II, Tuberous sclerosis 1
RS2538480268 RET Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2538481248 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS2538482755 PLEC Health Risk Likely pathogenic —
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