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
RS770002293 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Familial cancer of breast
RS770003315 WARS1 Health Risk Conflicting classifications of pathogenicity Neuronopathy, distal hereditary motor
RS770003597 ZMPSTE24 Health Risk Conflicting classifications of pathogenicity Mandibuloacral dysplasia with type B lipodystrophy, Lethal tight skin contracture syndrome
RS770003991 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS770004356 FREM2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS770005848 WRAP53 Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, autosomal recessive 3
RS770006231 PNKP Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 12
RS770006924 WFS1 Health Risk Pathogenic/Likely pathogenic —
RS770007531 APTX Health Risk Pathogenic/Likely pathogenic Ataxia, early-onset
RS770007601 CACNA1C Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Long QT syndrome
RS770007806 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Charlevoix-Saguenay spastic ataxia
RS770009021 ACADS Health Risk Conflicting classifications of pathogenicity Deficiency of butyryl-CoA dehydrogenase, Deficiency of butyryl-CoA dehydrogenase
RS770009143 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Intrauterine growth retardation
RS770010402 ZNF335 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS770010858 HNRNPU Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 54
RS770011113 CNGB1 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinitis pigmentosa
RS770011773 F5 Health Risk Pathogenic Congenital factor V deficiency, Glioma susceptibility 1
RS770014321 SMARCA4 Health Risk Pathogenic/Likely pathogenic Intellectual disability, autosomal dominant 16
RS770015278 CEP290 Health Risk Likely pathogenic Bardet-Biedl syndrome 14, Bardet-Biedl syndrome 14
RS770015462 TRIM32 Health Risk Conflicting classifications of pathogenicity TRIM32-related disorder, Bardet-Biedl syndrome
RS770016586 PRKCG Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia type 14, Spinocerebellar ataxia type 14
RS770018276 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ovarian cancer
RS770018707 FLG Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS770020203 KRAS Health Risk Conflicting classifications of pathogenicity Non-immune hydrops fetalis, Non-immune hydrops fetalis
RS770020484 ATP7B Health Risk Pathogenic/Likely pathogenic Wilson disease, Wilson disease
RS770021950 MYH9 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 17, MYH9-related disorder
RS770023115 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS770023485 ABCG8 Health Risk Pathogenic/Likely pathogenic Sitosterolemia 1, Sitosterolemia 1
RS770023621 PIEZO1 Health Risk Conflicting classifications of pathogenicity —
RS770023727 GSN Health Risk Conflicting classifications of pathogenicity Finnish type amyloidosis, Finnish type amyloidosis
RS770023814 WWOX Health Risk Conflicting classifications of pathogenicity Autosomal recessive spinocerebellar ataxia 12, Developmental and epileptic encephalopathy
RS770024099 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS770025079 GRM6 Health Risk Conflicting classifications of pathogenicity Congenital stationary night blindness, Congenital stationary night blindness 1B
RS770026189 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Adams-Oliver syndrome 5
RS770027510 COL2A1 Health Risk Conflicting classifications of pathogenicity —
RS770027594 AIRE Health Risk Likely pathogenic Polyglandular autoimmune syndrome, type 1
RS770028088 CYP24A1 Health Risk Conflicting classifications of pathogenicity Hypercalcemia, infantile
RS770028859 RBPJ Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS770029258 TTN Health Risk Likely pathogenic Primary dilated cardiomyopathy, Primary dilated cardiomyopathy
RS770029932 GAA Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type II
RS770033355 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS770035560 FARS2 Health Risk Conflicting classifications of pathogenicity Combined oxidative phosphorylation defect type 14, Combined oxidative phosphorylation defect type 14
RS770035646 DST Health Risk Pathogenic Hereditary sensory and autonomic neuropathy type 6, Epidermolysis bullosa simplex 3
RS770036597 NT5C2 Health Risk Likely pathogenic Hereditary spastic paraplegia 45, Hereditary spastic paraplegia 45
RS770037766 PYGM Health Risk Pathogenic/Likely pathogenic Glycogen storage disease, type V
RS770038333 ALPL Health Risk Conflicting classifications of pathogenicity Adult hypophosphatasia, Childhood hypophosphatasia
RS770038566 SLC12A3 Health Risk Likely pathogenic Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS770038577 TTN Health Risk Pathogenic/Likely pathogenic Primary dilated cardiomyopathy, Cardiovascular phenotype
RS770039471 OTOG Health Risk Conflicting classifications of pathogenicity OTOG-related disorder, OTOG-related disorder
RS770039542 KCNT1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14
RS770040598 DNMT3B Health Risk Conflicting classifications of pathogenicity Centromeric instability of chromosomes 1, 9 and 16 and immunodeficiency
RS770042200 MARVELD2 Health Risk Likely pathogenic Hearing impairment, Hearing impairment
RS770042748 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS770043048 COL2A1 Health Risk Conflicting classifications of pathogenicity —
RS770043095 FIG4 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease
RS770043372 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia
RS770044637 ALG3 Health Risk Pathogenic ALG3-congenital disorder of glycosylation, ALG3-congenital disorder of glycosylation
RS770045008 TULP1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive retinitis pigmentosa, Retinal dystrophy
RS770045708 DNAAF2 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS770045897 COLQ Health Risk Pathogenic Congenital myasthenic syndrome 5, Synaptic congenital myasthenic syndromes
RS770046324 PTCH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Gorlin syndrome
RS770046529 TMPRSS3 Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 8, Autosomal recessive nonsyndromic hearing loss 8
RS770046688 SPTAN1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 5
RS770047072 INVS Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Inborn genetic diseases
RS770047247 SCN10A Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Cardiovascular phenotype
RS770047331 BBS12 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, BBS12-related disorder
RS770047651 KCNH2 Health Risk Pathogenic/Likely pathogenic Long QT syndrome, Cardiovascular phenotype
RS770048428 FRAS1 Health Risk Pathogenic —
RS770048768 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS770050262 HOGA1 Health Risk Pathogenic/Likely pathogenic Primary hyperoxaluria type 3, Malignant tumor of urinary bladder
RS770051042 ETFDH Health Risk Likely pathogenic Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS770051637 LRP4 Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 17, Cenani-Lenz syndactyly syndrome
RS770052089 MYO15A Health Risk Pathogenic —
RS770052197 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS770052290 KCNH2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome 2, Long QT syndrome
RS770052600 ATP6V0A4 Health Risk Likely pathogenic ATP6V0A4-related disorder, Renal tubular acidosis
RS770053320 BBS10 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Bardet-Biedl syndrome 10
RS770053354 GALNS Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-IV-A
RS770053423 ATP1A2 Health Risk Pathogenic/Likely pathogenic Alternating hemiplegia of childhood 1, Familial hemiplegic migraine
RS770054036 TSC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS770054352 RYR1 Health Risk Likely pathogenic RYR1-related disorder, RYR1-related disorder
RS770055192 PEX6 Health Risk Pathogenic Peroxisome biogenesis disorder, Peroxisome biogenesis disorder 4A (Zellweger)
RS770055617 CYP24A1 Health Risk Pathogenic Hypercalcemia, infantile
RS770055798 CHRNB2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy, Inborn genetic diseases
RS770059377 SCN5A Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Brugada syndrome
RS770059947 CEP152 Health Risk Pathogenic —
RS770063251 DPYS Health Risk Pathogenic Dihydropyrimidinase deficiency, Dihydropyrimidinase deficiency
RS770063261 PCDH15 Health Risk Pathogenic —
RS770063449 LAMA2 Health Risk Conflicting classifications of pathogenicity Congenital muscular dystrophy due to partial LAMA2 deficiency, LAMA2-related muscular dystrophy
RS770063654 SEC24D Health Risk Conflicting classifications of pathogenicity —
RS770064361 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3, Primary ciliary dyskinesia
RS770064368 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS770065197 LGI1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant epilepsy with auditory features, Inborn genetic diseases
RS770065565 CYP7B1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 5A, Spastic paraplegia
RS770066110 TERT Health Risk Pathogenic/Likely pathogenic Dyskeratosis congenita, autosomal dominant 2
RS770066171 PGM1 Health Risk Pathogenic PGM1-congenital disorder of glycosylation, PGM1-congenital disorder of glycosylation
RS770066278 PFKM Health Risk Pathogenic/Likely pathogenic Glycogen storage disease, type VII
RS770066665 GPR179 Health Risk Pathogenic/Likely pathogenic Congenital stationary night blindness 1E, Congenital stationary night blindness
RS770068023 PKHD1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS770068276 ROR2 Health Risk Conflicting classifications of pathogenicity Brachydactyly type B1, Autosomal recessive Robinow syndrome
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