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
RS2548334531 KAT6B Health Risk Conflicting classifications of pathogenicity Genitopatellar syndrome, Blepharophimosis - intellectual disability syndrome
RS2548334863 PHKB Health Risk Pathogenic Glycogen storage disease IXb, Glycogen storage disease IXb
RS2548334893 PHKB Health Risk Pathogenic Glycogen storage disease IXb, Glycogen storage disease IXb
RS2548335901 PHKB Health Risk Pathogenic Glycogen storage disease IXb, Glycogen storage disease IXb
RS2548337274 PHKB Health Risk Pathogenic Glycogen storage disease IXb, Glycogen storage disease IXb
RS2548337300 PHKB Health Risk Pathogenic Glycogen storage disease IXb, Glycogen storage disease IXb
RS2548338599 OCA2 Health Risk Pathogenic —
RS2548338916 OCA2 Health Risk Likely pathogenic SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
RS2548339012 OCA2 Health Risk Pathogenic/Likely pathogenic SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
RS2548339234 OCA2 Health Risk Pathogenic SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
RS2548339389 OCA2 Health Risk Pathogenic —
RS2548341056 PHKB Health Risk Likely pathogenic Glycogen storage disease IXb, Glycogen storage disease IXb
RS2548342446 PHKB Health Risk Conflicting classifications of pathogenicity Glycogen storage disease IXb, Glycogen storage disease IXb
RS2548344893 CREBBP Health Risk Pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations
RS2548345135 OCA2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS2548345259 OCA2 Health Risk Likely pathogenic —
RS2548345332 CREBBP Health Risk Pathogenic Rubinstein-Taybi syndrome, Rubinstein-Taybi syndrome
RS2548345341 OCA2 Health Risk Pathogenic —
RS2548345604 OCA2 Health Risk Pathogenic —
RS2548345817 OCA2 Health Risk Pathogenic/Likely pathogenic Tyrosinase-positive oculocutaneous albinism, SKIN/HAIR/EYE PIGMENTATION 1
RS2548345877 OCA2 Health Risk Pathogenic Tyrosinase-positive oculocutaneous albinism, Tyrosinase-positive oculocutaneous albinism
RS2548346230 CREBBP Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2548346371 CREBBP Health Risk Pathogenic Rubinstein-Taybi syndrome, Rubinstein-Taybi syndrome
RS2548346936 CREBBP Health Risk Likely pathogenic See cases, See cases
RS2548347011 CREBBP Health Risk Likely pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations
RS2548347574 CREBBP Health Risk Pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations
RS2548347663 CREBBP Health Risk Pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations
RS2548349199 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2548350000 OCA2 Health Risk Likely pathogenic —
RS2548350055 OCA2 Health Risk Pathogenic —
RS2548350127 TSC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis syndrome
RS2548350288 OCA2 Health Risk Likely pathogenic SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
RS2548350627 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2548351050 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2548351086 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2548351472 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2548355147 SLC24A1 Health Risk Pathogenic —
RS2548356509 CREBBP Health Risk Pathogenic Rubinstein-Taybi syndrome, Rubinstein-Taybi syndrome
RS2548359835 OCA2 Health Risk Likely pathogenic SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
RS2548359850 OCA2 Health Risk Likely pathogenic —
RS2548359903 SLC24A1 Health Risk Pathogenic —
RS2548362003 CREBBP Health Risk Pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations
RS2548362072 CREBBP Health Risk Likely pathogenic Rubinstein-Taybi syndrome, Rubinstein-Taybi syndrome
RS2548362175 CREBBP Health Risk Pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations
RS2548363238 OCA2 Health Risk Likely pathogenic Tyrosinase-positive oculocutaneous albinism, Tyrosinase-positive oculocutaneous albinism
RS2548363425 OCA2 Health Risk Pathogenic —
RS2548363498 OCA2 Health Risk Pathogenic Oculocutaneous albinism, Oculocutaneous albinism
RS2548363750 OCA2 Health Risk Pathogenic —
RS2548363796 OCA2 Health Risk Likely pathogenic Tyrosinase-positive oculocutaneous albinism, Tyrosinase-positive oculocutaneous albinism
RS2548363833 CREBBP Health Risk Pathogenic Rubinstein-Taybi syndrome, Rubinstein-Taybi syndrome
RS2548364207 CREBBP Health Risk Pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations
RS2548368576 CREBBP Health Risk Pathogenic Rubinstein-Taybi syndrome, Rubinstein-Taybi syndrome
RS2548370412 CREBBP Health Risk Likely pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations
RS2548372234 TSC2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2548373189 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2548377998 CPLANE1 Health Risk Likely pathogenic —
RS2548378011 CPLANE1 Health Risk Likely pathogenic —
RS2548378897 CPLANE1 Health Risk Likely pathogenic Joubert syndrome 17, Joubert syndrome 17
RS2548380984 CPLANE1 Health Risk Likely pathogenic —
RS2548384585 CREBBP Health Risk Pathogenic Rubinstein-Taybi syndrome, Rubinstein-Taybi syndrome
RS2548386452 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS2548388039 SLC24A1 Health Risk Pathogenic —
RS2548391755 CREBBP Health Risk Likely pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations
RS2548391838 CREBBP Health Risk Pathogenic Rubinstein-Taybi syndrome, Rubinstein-Taybi syndrome
RS2548392468 CREBBP Health Risk Likely pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations
RS2548393816 CREBBP Health Risk Likely pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations
RS2548396109 TSC2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2548396658 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2548396741 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2548397273 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2548398022 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2548398218 TSC2 Health Risk Likely pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2548406913 CREBBP Health Risk Likely pathogenic Rubinstein-Taybi syndrome, Rubinstein-Taybi syndrome
RS2548407772 CREBBP Health Risk Pathogenic Rubinstein-Taybi syndrome, Rubinstein-Taybi syndrome due to CREBBP mutations
RS2548407956 CREBBP Health Risk Pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations
RS2548411405 CAMK2G Health Risk Likely pathogenic —
RS2548412653 TSC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis syndrome
RS2548416335 DMXL2 Health Risk Pathogenic —
RS2548416338 CREBBP Health Risk Pathogenic Rubinstein-Taybi syndrome, Rubinstein-Taybi syndrome
RS2548416943 BRCA1 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS2548417170 DMXL2 Health Risk Likely pathogenic —
RS2548425461 DMXL2 Health Risk Pathogenic —
RS2548431236 CREBBP Health Risk Likely pathogenic —
RS2548431739 DMXL2 Health Risk Pathogenic —
RS2548433432 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2548433644 CREBBP Health Risk Pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations
RS2548433982 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2548434695 TSC2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2548435013 OCA2 Health Risk Pathogenic —
RS2548435097 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2548435190 OCA2 Health Risk Pathogenic —
RS2548435739 OCA2 Health Risk Pathogenic —
RS2548435893 OCA2 Health Risk Likely pathogenic SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
RS2548437341 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Tuberous sclerosis 2
RS2548440455 CREBBP Health Risk Pathogenic Rubinstein-Taybi syndrome, Rubinstein-Taybi syndrome
RS2548441801 OCA2 Health Risk Likely pathogenic Tyrosinase-positive oculocutaneous albinism, Tyrosinase-positive oculocutaneous albinism
RS2548441808 OCA2 Health Risk Likely pathogenic Tyrosinase-positive oculocutaneous albinism, Tyrosinase-positive oculocutaneous albinism
RS2548443607 CREBBP Health Risk Pathogenic Rubinstein-Taybi syndrome, Rubinstein-Taybi syndrome
RS2548445261 PCCA Health Risk Likely pathogenic Propionic acidemia, Propionic acidemia
RS2548445790 PCCA Health Risk Pathogenic Propionic acidemia, Nonpapillary renal cell carcinoma
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