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
RS1567114551 OCA2 Health Risk Pathogenic —
RS1567115738 SMAD6 Health Risk Pathogenic —
RS1567118987 FAH Health Risk Pathogenic/Likely pathogenic Tyrosinemia type I, Tyrosinemia type I
RS1567123492 SPG11 Health Risk Likely pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS1567123622 FAH Health Risk Conflicting classifications of pathogenicity Tyrosinemia type I, Tyrosinemia type I
RS1567124404 RLBP1 Health Risk Pathogenic Retinitis punctata albescens, Retinitis pigmentosa
RS1567127243 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS1567128142 MAPK8IP3 Health Risk Likely pathogenic Neurodevelopmental disorder with or without variable brain abnormalities, NEDBA
RS1567128655 TSC2 Health Risk Likely pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS1567129475 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS1567129567 NPRL3 Health Risk Pathogenic Epilepsy, familial focal
RS1567129739 NPRL3 Health Risk Pathogenic —
RS1567131023 UBR1 Health Risk Conflicting classifications of pathogenicity Johanson-Blizzard syndrome, Johanson-Blizzard syndrome
RS1567131767 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS1567133726 CHD2 Health Risk Pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS1567134495 NPRL3 Health Risk Pathogenic Epilepsy, familial focal
RS1567135103 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS1567135138 CHD2 Health Risk Pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS1567136357 CHD2 Health Risk Pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS1567138270 CHD2 Health Risk Pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS1567138301 CHD2 Health Risk Pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS1567138536 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS1567138573 NR2F2 Health Risk Conflicting classifications of pathogenicity Congenital heart defects, multiple types
RS1567139896 NPRL3 Health Risk Pathogenic/Likely pathogenic Epilepsy, familial focal
RS1567141162 CHD2 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS1567142658 FANCI Health Risk Likely pathogenic —
RS1567142752 NPRL3 Health Risk Pathogenic —
RS1567143705 PKD1 Health Risk Likely pathogenic —
RS1567144266 PKD1 Health Risk Likely pathogenic —
RS1567145638 PKD1 Health Risk Likely pathogenic —
RS1567146946 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS1567148391 SPG11 Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS1567148587 PKD1 Health Risk Pathogenic/Likely pathogenic Polycystic kidney disease, adult type
RS1567148835 PKD1 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease, adult type
RS1567149938 CHD2 Health Risk Pathogenic —
RS1567149943 CHD2 Health Risk Pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS1567149946 CHD2 Health Risk Likely pathogenic Developmental and epileptic encephalopathy 94, Complex neurodevelopmental disorder
RS1567149962 CHD2 Health Risk Likely pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS1567152003 NPRL3 Health Risk Pathogenic Epilepsy, familial focal
RS1567152270 CHD2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Developmental and epileptic encephalopathy 94
RS1567153194 PKD1 Health Risk Likely pathogenic Polycystic kidney disease, adult type
RS1567153758 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS1567154939 PKD1-AS1;PKD1 Health Risk Likely pathogenic —
RS1567154953 PKD1 Health Risk Likely pathogenic Polycystic kidney disease, adult type
RS1567155145 PKD1;PKD1-AS1 Health Risk Pathogenic Polycystic kidney disease, Polycystic kidney disease
RS1567155179 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS1567157447 PKD1;PKD1-AS1 Health Risk Likely pathogenic —
RS1567158538 FANCI Health Risk Likely pathogenic Fanconi anemia complementation group I, Fanconi anemia complementation group I
RS1567159074 PKD1;PKD1-AS1 Health Risk Likely pathogenic Polycystic kidney disease, Polycystic kidney disease
RS1567159145 CHD2 Health Risk Pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS1567159386 PKD1 Health Risk Pathogenic —
RS1567159623 PKD1 Health Risk Pathogenic PKD1-related disorder, PKD1-related disorder
RS1567159701 NR2E3 Health Risk Pathogenic Enhanced S-cone syndrome, Enhanced S-cone syndrome
RS1567160054 PMM2 Health Risk Likely pathogenic PMM2-congenital disorder of glycosylation, PMM2-congenital disorder of glycosylation
RS1567160201 NR2E3 Health Risk Likely pathogenic Enhanced S-cone syndrome, Enhanced S-cone syndrome
RS1567160967 NR2E3 Health Risk Pathogenic Retinitis pigmentosa 37, Enhanced S-cone syndrome
RS1567163204 HBA2 Health Risk Conflicting classifications of pathogenicity —
RS1567163701 CHD2 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1567164013 PKD1 Health Risk Pathogenic —
RS1567164150 SYNE2 Health Risk Conflicting classifications of pathogenicity —
RS1567165630 FANCI Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group I, Fanconi anemia
RS1567165997 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS1567166045 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS1567166544 SLX4 Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS1567166655 SLX4 Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS1567168441 OCA2 Health Risk Pathogenic —
RS1567169118 PKD1 Health Risk Pathogenic —
RS1567169638 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS1567170994 SLX4 Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS1567171059 PKD1 Health Risk Likely pathogenic —
RS1567171182 PKD1 Health Risk Likely pathogenic —
RS1567171493 PKD1 Health Risk Pathogenic —
RS1567173560 PKD1 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease, adult type
RS1567173924 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS1567173968 PKD1 Health Risk Likely pathogenic —
RS1567174297 ALDH1A3 Health Risk Likely pathogenic Isolated anophthalmia-microphthalmia syndrome, Isolated anophthalmia-microphthalmia syndrome
RS1567174597 PIGQ Health Risk Pathogenic Epilepsy, Epilepsy
RS1567174997 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS1567175626 FANCI Health Risk Pathogenic/Likely pathogenic Fanconi anemia, Fanconi anemia complementation group I
RS1567176006 SLX4 Health Risk Likely pathogenic Glioblastoma multiforme, Glioblastoma multiforme
RS1567176190 MYO9A Health Risk Conflicting classifications of pathogenicity Myasthenic syndrome, congenital
RS1567176750 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS1567177198 STRA6 Health Risk Pathogenic Matthew-Wood syndrome, Matthew-Wood syndrome
RS1567177684 PKD1 Health Risk Pathogenic/Likely pathogenic Polycystic kidney disease, adult type
RS1567177760 PKD1 Health Risk Pathogenic —
RS1567177764 PKD1 Health Risk Likely pathogenic —
RS1567178000 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS1567178071 SLX4 Health Risk Pathogenic Fanconi anemia complementation group P, Fanconi anemia
RS1567179036 FANCI Health Risk Pathogenic/Likely pathogenic Fanconi anemia, Fanconi anemia complementation group I
RS1567180636 PKD1 Health Risk Pathogenic/Likely pathogenic Polycystic kidney disease, adult type
RS1567180640 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS1567182193 PKD1 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease, adult type
RS1567183122 POLG Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS1567183633 PKD1 Health Risk Pathogenic —
RS1567183784 PKD1 Health Risk Pathogenic —
RS1567184117 POLG Health Risk Likely pathogenic Progressive sclerosing poliodystrophy, Mitochondrial disease
RS1567184366 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS1567185026 POLG Health Risk Pathogenic Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS1567185048 POLG Health Risk Pathogenic/Likely pathogenic Progressive sclerosing poliodystrophy, Mitochondrial DNA depletion syndrome 4b
RS1567185138 PKD1 Health Risk Pathogenic —
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