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
RS2506726269 SRCAP Health Risk Pathogenic Floating-Harbor syndrome, Inborn genetic diseases
RS2506726285 SRCAP Health Risk Pathogenic —
RS2506726338 SRCAP Health Risk Likely pathogenic Floating-Harbor syndrome, Floating-Harbor syndrome
RS2506726491 SRCAP Health Risk Pathogenic —
RS2506726518 SRCAP Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2506726581 SRCAP Health Risk Pathogenic —
RS2506727018 SRCAP Health Risk Likely pathogenic Floating-Harbor syndrome, Floating-Harbor syndrome
RS2506727078 SRCAP Health Risk Pathogenic —
RS2506727189 SRCAP Health Risk Pathogenic —
RS2506728534 SRCAP Health Risk Likely pathogenic Developmental delay, hypotonia
RS2506729448 SRCAP Health Risk Likely pathogenic Floating-Harbor syndrome, Floating-Harbor syndrome
RS2506730506 SRCAP Health Risk Pathogenic/Likely pathogenic Floating-Harbor syndrome, Developmental delay
RS2506731130 SRCAP Health Risk Pathogenic —
RS2506732204 PHKB Health Risk Likely pathogenic Glycogen storage disease IXb, Glycogen storage disease IXb
RS2506737906 PHKB Health Risk Pathogenic Glycogen storage disease IXb, Glycogen storage disease IXb
RS2506800550 FANCI Health Risk Likely pathogenic Fanconi anemia complementation group I, Fanconi anemia complementation group I
RS2506802256 CYLD Health Risk Pathogenic Brooke-Spiegler syndrome, Brooke-Spiegler syndrome
RS2506820899 CYLD Health Risk Pathogenic CYLD-related disorder, CYLD-related disorder
RS2506824551 OCA2 Health Risk Likely pathogenic —
RS2506825899 OCA2 Health Risk Pathogenic —
RS2506828315 CDH11 Health Risk Likely pathogenic —
RS2506837428 VPS35L Health Risk Likely pathogenic Ritscher-Schinzel syndrome 3, Ritscher-Schinzel syndrome 3
RS2506847638 EARS2 Health Risk Pathogenic —
RS2506849137 CYLD Health Risk Pathogenic —
RS2506858241 GNAO1 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2506862962 CYLD Health Risk Likely pathogenic Brooke-Spiegler syndrome, Brooke-Spiegler syndrome
RS2506863798 EARS2 Health Risk Likely pathogenic Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome, Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
RS2506871916 GNAO1 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 17
RS2506872117 GNAO1 Health Risk Conflicting classifications of pathogenicity GNAO1-related disorder, Early-infantile DEE
RS2506872240 GNAO1 Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS2506876806 GNAO1 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2506887464 GNAO1 Health Risk Likely pathogenic —
RS2506891667 KATNB1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2506891682 EARS2 Health Risk Likely pathogenic Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome, Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
RS2506891792 KATNB1 Health Risk Pathogenic —
RS2506892252 EARS2 Health Risk Likely pathogenic EARS2-related disorder, EARS2-related disorder
RS2506893332 CDH11 Health Risk Likely pathogenic Teebi hypertelorism syndrome 2, Teebi hypertelorism syndrome 2
RS2506903755 CYLD Health Risk Likely pathogenic Brooke-Spiegler syndrome, Brooke-Spiegler syndrome
RS2506910748 KATNB1 Health Risk Likely pathogenic KATNB1-related disorder, KATNB1-related disorder
RS2506913635 PARN Health Risk Pathogenic Dyskeratosis congenita, autosomal recessive 6
RS2506913971 EARS2 Health Risk Pathogenic —
RS2506943395 VPS35L Health Risk Pathogenic Ritscher-Schinzel syndrome 3, Ritscher-Schinzel syndrome 3
RS2506953147 MYH11 Health Risk Pathogenic —
RS2506956201 OTOA Health Risk Pathogenic —
RS2506957305 OTOA Health Risk Pathogenic —
RS2506958652 FANCI Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group I, Fanconi anemia
RS2506960798 HYDIN Health Risk Pathogenic Primary ciliary dyskinesia 5, Primary ciliary dyskinesia 5
RS2506961673 FANCI Health Risk Likely pathogenic Fanconi anemia complementation group I, Fanconi anemia complementation group I
RS2506961955 FANCI Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia complementation group I
RS2506971137 OTOA Health Risk Pathogenic —
RS2506971268 OTOA Health Risk Pathogenic —
RS2506971572 OTOA Health Risk Likely pathogenic —
RS2506973246 GPRC5B Health Risk Pathogenic Megalencephalic leukoencephalopathy with subcortical cysts 3, Megalencephalic leukoencephalopathy with subcortical cysts 3
RS2506973258 GPRC5B Health Risk Pathogenic Megalencephalic leukoencephalopathy with subcortical cysts 3, Megalencephalic leukoencephalopathy with subcortical cysts 3
RS2506980081 HYDIN Health Risk Likely pathogenic Primary ciliary dyskinesia 5, Primary ciliary dyskinesia 5
RS2506981791 DHODH Health Risk Pathogenic —
RS2506989427 AARS1 Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS2506990331 OTOA Health Risk Pathogenic —
RS2506997702 AARS1 Health Risk Pathogenic Developmental and epileptic encephalopathy, 29
RS2506997974 AARS1 Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS2507002278 HSF4 Health Risk Pathogenic Cataract 5 multiple types, Cataract 5 multiple types
RS2507003569 AARS1 Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS2507012689 AARS1 Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS2507013974 AARS1 Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS2507014327 HYDIN Health Risk Likely pathogenic Primary ciliary dyskinesia 5, Primary ciliary dyskinesia 5
RS2507016563 AARS1 Health Risk Likely pathogenic Leukoencephalopathy, hereditary diffuse
RS2507018118 AARS1 Health Risk Likely pathogenic Trichothiodystrophy 8, nonphotosensitive
RS2507018497 HSF4 Health Risk Pathogenic Cataract 5 multiple types, Cataract 5 multiple types
RS2507020531 AARS1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2507028484 AARS1 Health Risk Likely pathogenic Charcot-Marie-Tooth disease axonal type 2N, Charcot-Marie-Tooth disease axonal type 2N
RS2507029458 OTOA Health Risk Pathogenic —
RS2507033596 OTOA Health Risk Likely pathogenic —
RS2507033670 OTOA Health Risk Pathogenic —
RS2507033841 OTOA Health Risk Pathogenic —
RS2507033909 OTOA Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 22, Autosomal recessive nonsyndromic hearing loss 22
RS2507034326 OTOA Health Risk Pathogenic —
RS2507037782 AARS1 Health Risk Likely pathogenic —
RS2507039180 OTOA Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 22, Autosomal recessive nonsyndromic hearing loss 22
RS2507041538 HYDIN Health Risk Likely pathogenic Primary ciliary dyskinesia 5, Primary ciliary dyskinesia 5
RS2507049524 OTOA Health Risk Pathogenic —
RS2507049541 OTOA Health Risk Pathogenic —
RS2507055972 FANCI Health Risk Likely pathogenic Fanconi anemia complementation group I, Fanconi anemia complementation group I
RS2507056779 KARS1 Health Risk Pathogenic/Likely pathogenic KARS1-related disorder, Leukoencephalopathy
RS2507058446 OTOA Health Risk Pathogenic —
RS2507058720 FANCI Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2507058861 OTOA Health Risk Pathogenic —
RS2507058870 OTOA Health Risk Pathogenic —
RS2507058940 OTOA Health Risk Likely pathogenic —
RS2507063974 OTOA Health Risk Pathogenic —
RS2507063979 OTOA Health Risk Likely pathogenic OTOA-related disorder, OTOA-related disorder
RS2507068066 TK2 Health Risk Pathogenic —
RS2507068187 TK2 Health Risk Pathogenic —
RS2507073619 TERF2IP Health Risk Conflicting classifications of pathogenicity —
RS2507088209 TK2 Health Risk Pathogenic —
RS2507089875 IFT140 Health Risk Pathogenic Saldino-Mainzer syndrome, Saldino-Mainzer syndrome
RS2507091300 TK2 Health Risk Pathogenic —
RS2507091550 TK2 Health Risk Pathogenic —
RS2507094576 IFT140 Health Risk Likely pathogenic Saldino-Mainzer syndrome, Saldino-Mainzer syndrome
RS2507094628 IFT140 Health Risk Likely pathogenic Retinitis pigmentosa 80, Retinitis pigmentosa 80
RS2507105477 DHX38 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
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