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
RS1555440022 TSC2 Health Risk Pathogenic —
RS1555440188 CLN6 Health Risk Likely pathogenic Ceroid lipofuscinosis, neuronal
RS1555440206 CLN6 Health Risk Pathogenic Ceroid lipofuscinosis, neuronal
RS1555440351 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Tuberous sclerosis syndrome
RS1555440437 TSC2 Health Risk Pathogenic —
RS1555440475 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1555440522 FAH Health Risk Likely pathogenic Tyrosinemia type I, Tyrosinemia type I
RS1555440555 CHD2 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1555440558 CHD2 Health Risk Likely pathogenic —
RS1555440561 CHD2 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1555440603 FAH Health Risk Pathogenic Tyrosinemia type I, Tyrosinemia type I
RS1555440785 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1555440885 CHD2 Health Risk Pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS1555440894 TSC2 Health Risk Likely pathogenic —
RS1555441032 NPRL3 Health Risk Pathogenic Epilepsy, familial focal
RS1555441161 SIN3A Health Risk Pathogenic —
RS1555441169 TSC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS1555441221 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS1555441251 FAH Health Risk Likely pathogenic Tyrosinemia type I, Tyrosinemia type I
RS1555441265 TSC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS1555441272 FAH Health Risk Likely pathogenic Tyrosinemia type I, Tyrosinemia type I
RS1555441595 FAH Health Risk Pathogenic Tyrosinemia type I, Tyrosinemia type I
RS1555441597 FAH Health Risk Likely pathogenic Tyrosinemia type I, Tyrosinemia type I
RS1555441703 FAH Health Risk Pathogenic Tyrosinemia type I, Tyrosinemia type I
RS1555441852 FAH Health Risk Likely pathogenic Tyrosinemia type I, Tyrosinemia type I
RS1555441861 FAH Health Risk Likely pathogenic Tyrosinemia type I, Tyrosinemia type I
RS1555442289 FAH Health Risk Likely pathogenic Tyrosinemia type I, Tyrosinemia type I
RS1555442385 FAH Health Risk Pathogenic Tyrosinemia type I, Familial cancer of breast
RS1555442402 FAH Health Risk Conflicting classifications of pathogenicity Tyrosinemia type I, Tyrosinemia type I
RS1555442813 CHD2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Developmental and epileptic encephalopathy 94
RS1555442886 CHD2 Health Risk Pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS1555442889 CHD2 Health Risk Pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS1555443191 NPRL3 Health Risk Likely pathogenic —
RS1555443477 CHD2 Health Risk Likely pathogenic —
RS1555443581 SIN3A Health Risk Pathogenic/Likely pathogenic SIN3A-related intellectual disability syndrome due to a point mutation, SIN3A-related intellectual disability syndrome due to a point mutation
RS1555443600 SIN3A Health Risk Pathogenic SIN3A-related intellectual disability syndrome due to a point mutation, SIN3A-related intellectual disability syndrome due to a point mutation
RS1555443627 SIN3A Health Risk Pathogenic —
RS1555443682 SIN3A Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1555444022 SIN3A Health Risk Likely pathogenic —
RS1555444207 NPRL3 Health Risk Pathogenic —
RS1555444225 PKD1 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease, adult type
RS1555444249 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS1555444334 MIR1225;PKD1 Health Risk Likely pathogenic Polycystic kidney disease, Polycystic kidney disease
RS1555444468 PKD1 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease, Autosomal dominant polycystic kidney disease
RS1555444602 PKD1 Health Risk Pathogenic —
RS1555444603 CHD2 Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy 94, Complex neurodevelopmental disorder
RS1555444648 PKD1 Health Risk Pathogenic —
RS1555444702 CHD2 Health Risk Pathogenic Inborn genetic diseases, Developmental and epileptic encephalopathy 94
RS1555444715 PKD1 Health Risk Pathogenic/Likely pathogenic Polycystic kidney disease, adult type
RS1555444809 SIN3A Health Risk Likely pathogenic —
RS1555444862 CHD2 Health Risk Likely pathogenic —
RS1555444879 SIN3A Health Risk Pathogenic —
RS1555444885 SIN3A Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, SIN3A-related intellectual disability syndrome
RS1555444985 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS1555445123 PKD1 Health Risk Pathogenic —
RS1555445192 PKD1 Health Risk Pathogenic Polycystic kidney disease, Polycystic kidney disease
RS1555445229 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS1555445274 PKD1 Health Risk Pathogenic PKD1-related disorder, Polycystic kidney disease
RS1555445508 MYO5A Health Risk Likely pathogenic —
RS1555445563 CHD2 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1555445569 PKD1 Health Risk Likely pathogenic Polycystic kidney disease, adult type
RS1555445579 PKD1 Health Risk Likely pathogenic —
RS1555445585 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS1555445595 PKD1 Health Risk Pathogenic —
RS1555445685 CHD2 Health Risk Pathogenic Inborn genetic diseases, Developmental and epileptic encephalopathy 94
RS1555445693 CHD2 Health Risk Pathogenic Self-limited epilepsy with centrotemporal spikes, Self-limited epilepsy with centrotemporal spikes
RS1555445740 PKD1 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease, adult type
RS1555445771 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS1555445999 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS1555446033 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS1555446053 PKD1 Health Risk Likely pathogenic Polycystic kidney disease, adult type
RS1555446078 SPG11 Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS1555446105 PKD1 Health Risk Pathogenic —
RS1555446330 PKD1 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease, adult type
RS1555446411 PKD1 Health Risk Pathogenic/Likely pathogenic Polycystic kidney disease, adult type
RS1555446576 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS1555446582 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS1555446611 PKD1 Health Risk Pathogenic —
RS1555446637 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS1555446712 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS1555446980 NR2F2 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1555446983 NR2F2 Health Risk Likely pathogenic Congenital heart defects, multiple types
RS1555447011 PKD1 Health Risk Pathogenic Inborn genetic diseases, Polycystic kidney disease
RS1555447012 NR2F2 Health Risk Pathogenic Congenital heart defects, multiple types
RS1555447057 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS1555447153 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS1555447196 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS1555447237 NR2F2 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1555447432 SPG11 Health Risk Likely pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS1555447459 SPG11 Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia 11, Charcot-Marie-Tooth disease axonal type 2X
RS1555447465 NR2F2 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1555447538 STRC Health Risk Likely pathogenic Rare genetic deafness, Rare genetic deafness
RS1555447569 SCAPER Health Risk Pathogenic Moderate intellectual disability, Rod-cone dystrophy
RS1555447724 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS1555448106 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS1555448810 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS1555448897 PMM2 Health Risk Pathogenic PMM2-congenital disorder of glycosylation, PMM2-congenital disorder of glycosylation
RS1555448899 PMM2 Health Risk Pathogenic PMM2-congenital disorder of glycosylation, PMM2-congenital disorder of glycosylation
RS1555448922 PMM2 Health Risk Likely pathogenic PMM2-congenital disorder of glycosylation, PMM2-congenital disorder of glycosylation
RS1555449235 PKD1 Health Risk Pathogenic —
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