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
RS1064797171 CEP290 Health Risk Likely pathogenic —
RS1064797173 WASHC4 Health Risk Likely pathogenic —
RS1064797177 EDNRB Health Risk Likely pathogenic Hearing impairment, Hearing impairment
RS1064797178 EDNRB Health Risk Pathogenic —
RS1064797180 COL4A2 Health Risk Likely pathogenic —
RS1064797182 RPGRIP1 Health Risk Pathogenic/Likely pathogenic Leber congenital amaurosis 6, Leber congenital amaurosis
RS1064797183 MYH7 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS1064797184 MYH7 Health Risk Likely pathogenic —
RS1064797186 FOXG1 Health Risk Likely pathogenic FOXG1 disorder, FOXG1 disorder
RS1064797188 SYNE2 Health Risk Likely pathogenic —
RS1064797192 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Charcot-Marie-Tooth disease axonal type 2O
RS1064797196 SNHG14;UBE3A Health Risk Likely pathogenic —
RS1064797202 POLG Health Risk Conflicting classifications of pathogenicity POLG-related disorder, POLG-related disorder
RS1064797205 PKD1 Health Risk Likely pathogenic Autosomal dominant polycystic kidney disease, Polycystic kidney disease
RS1064797209 MYH11 Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 4
RS1064797211 GNAO1 Health Risk Likely pathogenic —
RS1064797215 PRPF8 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa 13
RS1064797217 GUCY2D Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 1, Cone-rod dystrophy 6
RS1064797218 MYO15A Health Risk Likely pathogenic —
RS1064797219 CRYBA1 Health Risk Pathogenic/Likely pathogenic Cataract 10 multiple types, Cataract 10 multiple types
RS1064797229 RAC3 Health Risk Pathogenic Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies, See cases
RS1064797230 MICOS13 Health Risk Pathogenic Combined oxidative phosphorylation deficiency 37, Combined oxidative phosphorylation deficiency 37
RS1064797231 TUBB4A Health Risk Conflicting classifications of pathogenicity Torsion dystonia 4, Torsion dystonia 4
RS1064797234 NOTCH3 Health Risk Conflicting classifications of pathogenicity —
RS1064797235 C19orf12 Health Risk Pathogenic/Likely pathogenic Neurodegeneration with brain iron accumulation 4, Neurodegeneration with brain iron accumulation 4
RS1064797237 WDR62 Health Risk Likely pathogenic —
RS1064797239 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS1064797242 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS1064797243 RYR1 Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to
RS1064797244 PRX Health Risk Likely pathogenic —
RS1064797245 ATP1A3 Health Risk Likely pathogenic Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome, Dystonia 12
RS1064797246 CRX Health Risk Pathogenic/Likely pathogenic Cone-rod dystrophy 2, Leber congenital amaurosis 7
RS1064797247 CRX Health Risk Likely pathogenic Retinal dystrophy, Cone-rod dystrophy 2
RS1064797248 PPP2R1A Health Risk Conflicting classifications of pathogenicity —
RS1064797250 PRPF31;PRPF31-AS1 Health Risk Likely pathogenic —
RS1064797253 DYSF Health Risk Likely pathogenic —
RS1064797257 REEP1 Health Risk Likely pathogenic Glioma susceptibility 1, Glioma susceptibility 1
RS1064797258 CNGA3 Health Risk Likely pathogenic —
RS1064797263 SCN2A Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 11
RS1064797265 SCN1A Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS1064797266 SCN1A Health Risk Likely pathogenic —
RS1064797269 ABCB11 Health Risk Likely pathogenic —
RS1064797270 ABCB11 Health Risk Pathogenic Benign recurrent intrahepatic cholestasis type 2, Benign recurrent intrahepatic cholestasis type 2
RS1064797276 TTN Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiomyopathy
RS1064797278 CERKL Health Risk Conflicting classifications of pathogenicity Isolated macular dystrophy, Retinal dystrophy
RS1064797281 ALS2 Health Risk Pathogenic/Likely pathogenic Juvenile primary lateral sclerosis, Amyotrophic lateral sclerosis type 2
RS1064797284 KCNQ2 Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 7
RS1064797285 KCNQ2 Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS1064797289 SHANK3 Health Risk Likely pathogenic —
RS1064797290 SHANK3 Health Risk Likely pathogenic —
RS1064797291 RAF1 Health Risk Conflicting classifications of pathogenicity RASopathy, RASopathy
RS1064797294 MITF Health Risk Likely pathogenic Waardenburg syndrome, Waardenburg syndrome
RS1064797302 OPA1 Health Risk Likely pathogenic —
RS1064797303 OPA1 Health Risk Likely pathogenic Optic atrophy, Optic atrophy
RS1064797304 PDE6B Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 40, Leber congenital amaurosis
RS1064797306 WFS1 Health Risk Likely pathogenic Wolfram syndrome 1, Wolfram syndrome 1
RS1064797310 MEF2C Health Risk Pathogenic Neurodevelopmental disorder with hypotonia, stereotypic hand movements
RS1064797311 NR2F1 Health Risk Likely pathogenic Seizure, Seizure
RS1064797314 SH3TC2 Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4C
RS1064797315 PDE6A Health Risk Likely pathogenic —
RS1064797316 GLRA1 Health Risk Likely pathogenic —
RS1064797322 SYNGAP1 Health Risk Likely pathogenic SYNGAP1-related disorder, Intellectual disability
RS1064797324 EYS Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS1064797325 COL9A1 Health Risk Likely pathogenic —
RS1064797326 COL12A1 Health Risk Likely pathogenic Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS1064797327 LAMA2 Health Risk Pathogenic LAMA2-related muscular dystrophy, Merosin deficient congenital muscular dystrophy
RS1064797328 LAMA2 Health Risk Likely pathogenic —
RS1064797331 SYNE1 Health Risk Likely pathogenic —
RS1064797332 SYNE1 Health Risk Likely pathogenic —
RS1064797336 HSPB1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1064797337 COL1A2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS1064797339 SGCE Health Risk Pathogenic/Likely pathogenic Myoclonic dystonia 11, Myoclonic dystonia 11
RS1064797344 THAP1 Health Risk Likely pathogenic Torsion dystonia 6, Torsion dystonia 6
RS1064797347 CSPP1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 21, Joubert syndrome 21
RS1064797348 GRHL2 Health Risk Likely pathogenic —
RS1064797350 PLEC Health Risk Likely pathogenic —
RS1064797351 FREM1 Health Risk Likely pathogenic BNAR syndrome, Trigonocephaly 2
RS1064797355 GRIN1 Health Risk Pathogenic Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
RS1064797360 CDKL5 Health Risk Conflicting classifications of pathogenicity —
RS1064797362 ARX Health Risk Pathogenic Developmental and epileptic encephalopathy, 1
RS1064797363 RPGR Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1064797364 RPGR Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1064797365 RPGR Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa 3
RS1064797366 RPGR Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinitis pigmentosa
RS1064797368 RP2 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1064797369 SYN1 Health Risk Likely pathogenic —
RS1064797371 CACNA1F Health Risk Pathogenic/Likely pathogenic Aland island eye disease, Colon adenocarcinoma
RS1064797373 OPHN1 Health Risk Likely pathogenic —
RS1064797376 PCDH19 Health Risk Likely pathogenic —
RS1064797377 PCDH19 Health Risk Likely pathogenic —
RS1064797380 EMD Health Risk Conflicting classifications of pathogenicity X-linked Emery-Dreifuss muscular dystrophy, Cardiovascular phenotype
RS1064797381 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS1064797382 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS1064975 ADAMTSL2 Health Risk Conflicting classifications of pathogenicity Geleophysic dysplasia 1, Geleophysic dysplasia 1
RS1065671 TUBA1A Health Risk Conflicting classifications of pathogenicity —
RS1065746 HTT Health Risk Conflicting classifications of pathogenicity —
RS1065747 HTT Health Risk Conflicting classifications of pathogenicity —
RS1065761 CHIT1 Health Risk Conflicting classifications of pathogenicity Chitotriosidase deficiency, Chitotriosidase deficiency
RS10687343 NEB Health Risk Conflicting classifications of pathogenicity —
RS10754555 NLRP3 Health Risk Likely risk allele Long COVID-19, Long COVID-19
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