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
RS1571123333 CTSK Health Risk Likely pathogenic Pyknodysostosis, Pyknodysostosis
RS1571134523 ATF6 Health Risk Pathogenic Achromatopsia 7, Retinal dystrophy
RS1571138735 PEX19 Health Risk Pathogenic Peroxisome biogenesis disorder 12A (Zellweger), Peroxisome biogenesis disorder 12A (Zellweger)
RS1571143590 ATF6 Health Risk Pathogenic Achromatopsia 7, Achromatopsia 7
RS1571147567 LMX1A Health Risk Pathogenic Autosomal dominant nonsyndromic hearing loss 7, Autosomal dominant nonsyndromic hearing loss 7
RS1571150562 NEXN Health Risk Conflicting classifications of pathogenicity Primary familial dilated cardiomyopathy, Hypertrophic cardiomyopathy 20
RS1571153052 NECTIN4 Health Risk Pathogenic Ectodermal dysplasia-syndactyly syndrome 1, Ectodermal dysplasia-syndactyly syndrome 1
RS1571155763 TBX15 Health Risk Likely pathogenic —
RS1571158279 RPE65 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 87 with choroidal involvement, Retinal dystrophy
RS1571158755 RPE65 Health Risk Pathogenic/Likely pathogenic Leber congenital amaurosis 2, Retinitis pigmentosa 20
RS1571164162 CHD5 Health Risk Likely pathogenic Global developmental delay, Global developmental delay
RS1571164333 RPE65 Health Risk Pathogenic Autism, Global developmental delay
RS1571164534 RPE65 Health Risk Likely pathogenic Leber congenital amaurosis 2, Leber congenital amaurosis 2
RS1571165140 RPE65 Health Risk Likely pathogenic Retinitis pigmentosa 20, Leber congenital amaurosis 2
RS1571170561 RPE65 Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa 20
RS1571172233 RPE65 Health Risk Pathogenic Leber congenital amaurosis, Leber congenital amaurosis
RS1571175899 GJA8 Health Risk Likely pathogenic Cataract 1 multiple types, Cataract 1 multiple types
RS1571175950 GJA8 Health Risk Pathogenic Cataract 1 multiple types, Cataract 1 multiple types
RS1571177726 LMX1A Health Risk Pathogenic Autosomal dominant nonsyndromic hearing loss 7, Autosomal dominant nonsyndromic hearing loss 7
RS1571202126 NCSTN Health Risk Likely pathogenic —
RS1571217834 PBX1 Health Risk Likely pathogenic Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears
RS1571229515 AHDC1 Health Risk Pathogenic AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome, AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
RS1571231587 AHDC1 Health Risk Pathogenic —
RS1571232214 AGL Health Risk Pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS1571232325 AGL Health Risk Pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS1571232404 AGL Health Risk Pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS1571232632 AHDC1 Health Risk Pathogenic AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome, See cases
RS1571232872 GORAB-AS1;GORAB Health Risk Likely pathogenic Geroderma osteodysplastica, Geroderma osteodysplastica
RS1571234939 AHDC1 Health Risk Likely pathogenic —
RS1571235473 AHDC1 Health Risk Pathogenic AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome, AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
RS1571236369 AHDC1 Health Risk Pathogenic AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome, AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
RS1571237925 AHDC1 Health Risk Likely pathogenic —
RS1571238473 COL11A1 Health Risk Conflicting classifications of pathogenicity —
RS1571238944 COL11A1 Health Risk Likely pathogenic —
RS1571239957 ABCA4 Health Risk Pathogenic —
RS1571240391 AHDC1 Health Risk Pathogenic Neurodevelopmental abnormality, Neurodevelopmental abnormality
RS1571241930 ABCA4 Health Risk Pathogenic/Likely pathogenic Stargardt disease, Retinal dystrophy
RS1571241947 ABCA4 Health Risk Likely pathogenic Stargardt disease, Retinal dystrophy
RS1571242070 ABCA4 Health Risk Likely pathogenic Cone-rod dystrophy, Age related macular degeneration 2
RS1571242220 AHDC1 Health Risk Pathogenic AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome, AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
RS1571242436 AHDC1 Health Risk Pathogenic AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome, AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
RS1571243037 ABCA4 Health Risk Pathogenic Severe early-childhood-onset retinal dystrophy, Severe early-childhood-onset retinal dystrophy
RS1571243699 AGL Health Risk Pathogenic/Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS1571243797 GORAB Health Risk Pathogenic Geroderma osteodysplastica, Geroderma osteodysplastica
RS1571243862 AGL Health Risk Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS1571244033 AHDC1 Health Risk Pathogenic —
RS1571245809 ABCA4 Health Risk Pathogenic Stargardt disease, Stargardt disease
RS1571247308 ABCA4 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS1571250020 ABCA4 Health Risk Pathogenic Cone-rod dystrophy, Cone-rod dystrophy
RS1571250077 ABCA4 Health Risk Conflicting classifications of pathogenicity —
RS1571252997 ABCA4 Health Risk Pathogenic Stargardt disease, Stargardt disease
RS1571253050 ABCA4 Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1571256140 RFX5 Health Risk Likely pathogenic MHC class II deficiency 3, MHC class II deficiency 3
RS1571256775 ABCA4 Health Risk Pathogenic Stargardt disease, Stargardt disease
RS1571257754 ABCA4 Health Risk Pathogenic/Likely pathogenic Severe early-childhood-onset retinal dystrophy, Cone-rod dystrophy 3
RS1571257937 ABCA4 Health Risk Pathogenic Cone-rod dystrophy, ABCA4-related retinopathy
RS1571257969 ABCA4 Health Risk Conflicting classifications of pathogenicity —
RS1571258380 ABCA4 Health Risk Pathogenic —
RS1571258440 ABCA4 Health Risk Pathogenic Severe early-childhood-onset retinal dystrophy, Severe early-childhood-onset retinal dystrophy
RS1571259311 XPR1 Health Risk Likely pathogenic —
RS1571259807 KCNN3 Health Risk Pathogenic Zimmermann-Laband syndrome 3, Zimmermann-Laband syndrome 3
RS1571260017 RFX5 Health Risk Pathogenic MHC class II deficiency, MHC class II deficiency
RS1571260171 RFX5 Health Risk Likely pathogenic MHC class II deficiency, MHC class II deficiency
RS1571260285 KCNN3 Health Risk Pathogenic Zimmermann-Laband syndrome 3, Zimmermann-Laband syndrome 3
RS1571262081 RFX5 Health Risk Pathogenic MHC class II deficiency, MHC class II deficiency
RS1571264551 ABCA4 Health Risk Likely pathogenic Stargardt disease, Stargardt disease
RS1571264574 ABCA4 Health Risk Pathogenic Stargardt disease, Age related macular degeneration 2
RS1571265125 ABCA4 Health Risk Pathogenic Severe early-childhood-onset retinal dystrophy, Severe early-childhood-onset retinal dystrophy
RS1571265241 ABCA4 Health Risk Pathogenic Severe early-childhood-onset retinal dystrophy, Severe early-childhood-onset retinal dystrophy
RS1571265375 KCNJ10 Health Risk Likely pathogenic Abnormality of the nervous system, Abnormality of the nervous system
RS1571265496 KCNJ10 Health Risk Pathogenic SeSAME-like syndrome, SeSAME-like syndrome
RS1571266478 DOCK7 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 23
RS1571285932 SLC25A24 Health Risk Likely pathogenic Dementia, Bilateral tonic-clonic seizure
RS1571295161 DDR2 Health Risk Likely pathogenic —
RS1571308125 TNR Health Risk Pathogenic Non-progressive neurodevelopmental disorder with spasticity and transient opisthotonus, Neurodevelopmental disorder
RS1571320137 IQGAP3 Health Risk Likely pathogenic Motor and sensory neuropathy, Motor and sensory neuropathy
RS1571321748 POGZ Health Risk Likely pathogenic Obesity, Obesity
RS1571321814 POGZ Health Risk Pathogenic —
RS1571323203 WARS2 Health Risk Likely pathogenic Neurodevelopmental disorder, mitochondrial
RS1571323464 POGZ Health Risk Pathogenic —
RS1571323536 POGZ Health Risk Pathogenic —
RS1571325076 DDR2 Health Risk Pathogenic Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome, Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
RS1571325144 PPOX Health Risk Pathogenic —
RS1571326296 POGZ Health Risk Likely pathogenic Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome, Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
RS1571326825 POGZ Health Risk Likely pathogenic —
RS1571328045 POGZ Health Risk Likely pathogenic —
RS1571332089 POGZ Health Risk Likely pathogenic Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome, Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
RS1571339601 TNR Health Risk Pathogenic Non-progressive neurodevelopmental disorder with spasticity and transient opisthotonus, Neurodevelopmental disorder
RS1571340772 POGZ Health Risk Pathogenic —
RS1571342521 POGZ Health Risk Likely pathogenic —
RS1571346132 CDC14A Health Risk Pathogenic Sensorineural hearing loss disorder, Sensorineural hearing loss disorder
RS1571352321 PPOX Health Risk Pathogenic —
RS1571353663 KCNN3 Health Risk Pathogenic Zimmermann-Laband syndrome 3, Zimmermann-Laband syndrome 3
RS1571354325 PRRX1 Health Risk Pathogenic Agnathia-otocephaly complex, Agnathia-otocephaly complex
RS1571356820 POGZ Health Risk Pathogenic —
RS1571357779 PPOX Health Risk Pathogenic Variegate porphyria, Variegate porphyria
RS1571360953 TNR Health Risk Pathogenic Non-progressive neurodevelopmental disorder with spasticity and transient opisthotonus, Neurodevelopmental disorder
RS1571369150 PPOX Health Risk Pathogenic Variegate porphyria, Variegate porphyria
RS1571392612 PLA2G4A Health Risk Conflicting classifications of pathogenicity Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder, Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder
RS1571406458 PPOX Health Risk Pathogenic —
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