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
RS2151464836 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2151464837 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2151466201 NF1 Health Risk Pathogenic Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS2151466223 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2151466235 NF1 Health Risk Pathogenic Neurofibromatosis-Noonan syndrome, Neurofibromatosis-Noonan syndrome
RS2151466252 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2151466254 NF1 Health Risk Likely pathogenic Neurofibromatosis, type 1
RS2151466262 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2151466274 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2151466279 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS2151466305 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS2151466366 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2151466475 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2151466481 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2151466498 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2151466537 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2151466553 NF1 Health Risk Likely pathogenic —
RS2151469964 NF1 Health Risk Likely pathogenic Neurofibromatosis, type 1
RS2151470069 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2151470076 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2151470108 NF1 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis, type 1
RS2151470150 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2151470179 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS2151470201 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2151470213 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS2151470332 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2151470350 NF1 Health Risk Likely pathogenic Neurofibromatosis, type 1
RS2151478908 ACSF3 Health Risk Pathogenic/Likely pathogenic Combined malonic and methylmalonic acidemia, Combined malonic and methylmalonic acidemia
RS2151479069 ACSF3 Health Risk Pathogenic Combined malonic and methylmalonic acidemia, Combined malonic and methylmalonic acidemia
RS2151480775 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2151481415 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2151482554 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2151483315 TSC2 Health Risk Pathogenic —
RS2151483991 TSC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Lymphangiomyomatosis
RS2151485506 SLC13A5 Health Risk Pathogenic Developmental and epileptic encephalopathy, 25
RS2151485510 SLC13A5 Health Risk Pathogenic —
RS2151485792 FANCI Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia
RS2151487481 FOXN1 Health Risk Pathogenic T-cell immunodeficiency, congenital alopecia
RS2151490072 FOXN1 Health Risk Pathogenic T-cell immunodeficiency, congenital alopecia
RS2151491863 FOXN1 Health Risk Likely pathogenic T-cell immunodeficiency, congenital alopecia
RS2151492087 FOXN1 Health Risk Pathogenic T-cell immunodeficiency, congenital alopecia
RS2151493215 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS2151495220 SLC13A5 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 25
RS2151496734 CTC1 Health Risk Likely pathogenic —
RS2151497970 FOXN1 Health Risk Likely pathogenic T-cell immunodeficiency, congenital alopecia
RS2151498933 FOXN1 Health Risk Pathogenic T-cell immunodeficiency, congenital alopecia
RS2151498964 FOXN1 Health Risk Pathogenic T-cell immunodeficiency, congenital alopecia
RS2151499024 FOXN1 Health Risk Likely pathogenic T-cell immunodeficiency, congenital alopecia
RS2151499042 FOXN1 Health Risk Pathogenic T-cell lymphopenia, infantile
RS2151499311 FOXN1 Health Risk Pathogenic T-cell immunodeficiency, congenital alopecia
RS2151502269 CTC1 Health Risk Pathogenic Dyskeratosis congenita, Dyskeratosis congenita
RS2151503544 CTC1 Health Risk Pathogenic Dyskeratosis congenita, Dyskeratosis congenita
RS2151503678 CTC1 Health Risk Pathogenic —
RS2151504167 STUB1 Health Risk Likely pathogenic Spinocerebellar ataxia 48, Spinocerebellar ataxia 48
RS2151504209 STUB1 Health Risk Pathogenic Spinocerebellar ataxia 48, Spinocerebellar ataxia 48
RS2151504570 STUB1 Health Risk Pathogenic —
RS2151505158 STUB1 Health Risk Likely pathogenic Spinocerebellar ataxia 48, Spinocerebellar ataxia 48
RS2151506687 JMJD8;STUB1 Health Risk Likely pathogenic Autosomal recessive spinocerebellar ataxia 16, Autosomal recessive spinocerebellar ataxia 16
RS2151507049 STUB1 Health Risk Likely pathogenic Spinocerebellar ataxia 48, Spinocerebellar ataxia 48
RS2151507113 STUB1 Health Risk Pathogenic/Likely pathogenic —
RS2151508864 CTC1 Health Risk Likely pathogenic Dyskeratosis congenita, Dyskeratosis congenita
RS2151509277 CTC1 Health Risk Pathogenic Dyskeratosis congenita, Dyskeratosis congenita
RS2151510946 PKHD1 Health Risk Pathogenic/Likely pathogenic Polycystic kidney disease 4, Polycystic kidney disease 4
RS2151511838 CHMP1A Health Risk Likely pathogenic Pontoneocerebellar hypoplasia, Pontoneocerebellar hypoplasia
RS2151511848 PIGS Health Risk Pathogenic Glycosylphosphatidylinositol biosynthesis defect 18, Glycosylphosphatidylinositol biosynthesis defect 18
RS2151512054 PKHD1 Health Risk Pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS2151512076 PKHD1 Health Risk Pathogenic/Likely pathogenic Polycystic kidney disease 4, Autosomal recessive polycystic kidney disease
RS2151512212 PKHD1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS2151512451 TSC2 Health Risk Pathogenic —
RS2151512520 CTC1 Health Risk Pathogenic Dyskeratosis congenita, Dyskeratosis congenita
RS2151512637 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2151513295 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS2151513326 TSC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS2151516798 CHMP1A Health Risk Pathogenic —
RS2151520224 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Tuberous sclerosis 2
RS2151520497 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2151520544 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2151521044 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2151521127 ACSF3 Health Risk Pathogenic/Likely pathogenic Combined malonic and methylmalonic acidemia, Combined malonic and methylmalonic acidemia
RS2151521778 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS2151522509 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2151522778 CTC1 Health Risk Likely pathogenic —
RS2151523516 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2151523798 CTC1 Health Risk Pathogenic Dyskeratosis congenita, Dyskeratosis congenita
RS2151524044 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2151524091 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2151524168 CTC1 Health Risk Pathogenic Dyskeratosis congenita, Dyskeratosis congenita
RS2151524944 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2151526348 TSC2 Health Risk Likely pathogenic Ovarian cancer, Ovarian cancer
RS2151529577 TSC2 Health Risk Pathogenic/Likely pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2151530716 CTC1 Health Risk Pathogenic Dyskeratosis congenita, Dyskeratosis congenita
RS2151530795 TSC2 Health Risk Pathogenic —
RS2151531785 CTC1 Health Risk Pathogenic Dyskeratosis congenita, Dyskeratosis congenita
RS2151534791 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2151536071 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2151536718 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2151537459 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2151537475 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2151537536 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2151537542 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
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