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
RS199957528 CDON Health Risk Conflicting classifications of pathogenicity Holoprosencephaly 11, Inborn genetic diseases
RS199957886 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS199958211 ROBO1 Health Risk Conflicting classifications of pathogenicity Congenital nystagmus, Nystagmus
RS199958805 RP1L1 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS199958849 NFATC1 Health Risk Conflicting classifications of pathogenicity —
RS199958927 ASH1L Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS199959170 VHL Health Risk Conflicting classifications of pathogenicity Chuvash polycythemia, Von Hippel-Lindau syndrome
RS199959360 IQCB1 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Senior-Loken syndrome 5
RS199959383 WDPCP Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Bardet-Biedl syndrome 15
RS199959402 PDHA1 Health Risk Pathogenic/Likely pathogenic Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency
RS199959447 PKLR Health Risk Conflicting classifications of pathogenicity Pyruvate kinase deficiency of red cells, Pyruvate kinase deficiency of red cells
RS199959462 PTCH2 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Gorlin syndrome
RS199959482 ADGRV1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2C, Usher syndrome type 2C
RS199959678 NSUN2 Health Risk Conflicting classifications of pathogenicity —
RS199959946 KIF7 Health Risk Conflicting classifications of pathogenicity Acrocallosal syndrome, KIF7-related disorder
RS199960045 NRXN1 Health Risk Conflicting classifications of pathogenicity Pitt-Hopkins-like syndrome 2, Chromosome 2p16.3 deletion syndrome
RS199960137 GHR Health Risk Conflicting classifications of pathogenicity Laron-type isolated somatotropin defect, Sarcoma
RS199960807 NEXMIF Health Risk Conflicting classifications of pathogenicity —
RS199960819 DYNC2H1 Health Risk Conflicting classifications of pathogenicity Asphyxiating thoracic dystrophy 3, Jeune thoracic dystrophy
RS199961480 ASTN1 Health Risk Likely pathogenic —
RS199961741 ANKH Health Risk Conflicting classifications of pathogenicity Craniometaphyseal dysplasia, autosomal dominant
RS199961976 SLC13A3 Health Risk Conflicting classifications of pathogenicity Leukoencephalopathy, acute reversible
RS199962683 TSEN54 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Pontocerebellar hypoplasia type 4
RS199962701 KIDINS220 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, KIDINS220-related disorder
RS199962814 KIF1C Health Risk Conflicting classifications of pathogenicity Spastic ataxia 2, Inborn genetic diseases
RS199963585 PRKAG2 Health Risk Conflicting classifications of pathogenicity Wolff-Parkinson-White pattern, Hypertrophic cardiomyopathy 6
RS199963793 ACADSB Health Risk Conflicting classifications of pathogenicity Deficiency of 2-methylbutyryl-CoA dehydrogenase, Deficiency of 2-methylbutyryl-CoA dehydrogenase
RS199963966 NDUFV1 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 1
RS199964133 FLNB Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS199964631 LRRK2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant Parkinson disease 8, Inborn genetic diseases
RS199964793 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Isolated focal cortical dysplasia type II
RS199964822 KDM6B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS199964823 CRYBG2 Health Risk Conflicting classifications of pathogenicity —
RS199965459 DDB2 Health Risk Conflicting classifications of pathogenicity Xeroderma pigmentosum, group E
RS199965465 ALDOB Health Risk Likely pathogenic Hereditary fructosuria, Hereditary fructosuria
RS199965510 LZTR1 Health Risk Conflicting classifications of pathogenicity LZTR1-related schwannomatosis, LZTR1-related schwannomatosis
RS199965734 HPS4 Health Risk Conflicting classifications of pathogenicity Hermansky-Pudlak syndrome 4, HPS4-related disorder
RS199966003 CTC1 Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, Inborn genetic diseases
RS199966186 NLRP12 Health Risk Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 2, Autoinflammatory syndrome
RS199966218 NF1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Neurofibromatosis
RS199966372 FANCL Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group L, Inborn genetic diseases
RS199966462 HMCN1 Health Risk Conflicting classifications of pathogenicity HMCN1-related disorder, HMCN1-related disorder
RS199966549 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, CHARGE syndrome
RS199966627 PCDH12 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS199966747 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS199967225 CCDC88C Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS199967286 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group A
RS199967386 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS199967536 PJVK Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 59, Autosomal recessive nonsyndromic hearing loss 59
RS199967717 MAN2B1 Health Risk Conflicting classifications of pathogenicity Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS199967869 GALC Health Risk Conflicting classifications of pathogenicity Galactosylceramide beta-galactosidase deficiency, GALC-related disorder
RS199968059 MYO15A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Autosomal recessive nonsyndromic hearing loss 3
RS199968254 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS199968414 MYH9 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 17, MYH9-related disorder
RS199968454 PIGT Health Risk Pathogenic Multiple congenital anomalies-hypotonia-seizures syndrome 3, Multiple congenital anomalies-hypotonia-seizures syndrome 3
RS199968487 SPG11 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS199968897 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS199969138 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS199969388 PC Health Risk Conflicting classifications of pathogenicity Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency
RS199969537 DNAH8 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia, Spermatogenic failure 46
RS199970830 G6PD Health Risk Conflicting classifications of pathogenicity Anemia, nonspherocytic hemolytic
RS199970847 SLC19A3 Health Risk Conflicting classifications of pathogenicity Biotin-responsive basal ganglia disease, Biotin-responsive basal ganglia disease
RS199971000 MYH9 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 17, Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
RS199971078 FH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fumarase deficiency
RS199971372 FCSK Health Risk Conflicting classifications of pathogenicity —
RS199971679 HMCN1 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 1, Age related macular degeneration 1
RS199971687 MMAB Health Risk Pathogenic Methylmalonic aciduria, cblB type
RS199971778 GSDME Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 5, Inborn genetic diseases
RS199972068 PRDM16 Health Risk Conflicting classifications of pathogenicity Left ventricular noncompaction 8, PRDM16-related disorder
RS199972447 TBCD Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS199972466 SBF1 Health Risk Conflicting classifications of pathogenicity —
RS199972529 MPI Health Risk Conflicting classifications of pathogenicity MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation
RS199972578 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiovascular phenotype
RS199972616 CORIN Health Risk Conflicting classifications of pathogenicity Preeclampsia/eclampsia 5, Preeclampsia/eclampsia 5
RS199972656 DES Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1I, Neurogenic scapuloperoneal syndrome
RS199973357 MORC2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2Z, Inborn genetic diseases
RS199973552 STK11 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Peutz-Jeghers syndrome
RS199973579 BICRA Health Risk Conflicting classifications of pathogenicity BICRA-related disorder, BICRA-related disorder
RS199973665 BCORL1 Health Risk Pathogenic Oligoasthenoteratozoospermia, Oligoasthenoteratozoospermia
RS199973967 TENM4 Health Risk Conflicting classifications of pathogenicity TENM4-related disorder, TENM4-related disorder
RS199974151 MBTPS2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS199974153 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Becker muscular dystrophy
RS199974259 SLC12A3 Health Risk Pathogenic Familial hypokalemia-hypomagnesemia, Bartter syndrome
RS199974622 SETX Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia
RS199974771 PDE6B Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Congenital stationary night blindness autosomal dominant 2
RS199975230 RPGRIP1L Health Risk Pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS199975643 SCN3A Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 62
RS199975696 SRD5A3 Health Risk Conflicting classifications of pathogenicity SRD5A3-congenital disorder of glycosylation, SRD5A3-related disorder
RS199975988 GRIN2A Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS199976321 MPDZ Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS199976372 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS199976538 NAGS Health Risk Conflicting classifications of pathogenicity Hyperammonemia, type III
RS199976742 AARS1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 2
RS199976790 FLNC Health Risk Pathogenic Cardiovascular phenotype, Hypertrophic cardiomyopathy 26
RS199976922 GFM1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS199976989 ABCA1 Health Risk Conflicting classifications of pathogenicity Hypoalphalipoproteinemia, primary
RS199977261 AGK Health Risk Conflicting classifications of pathogenicity Sengers syndrome, Cataract 38
RS199977360 MEI1 Health Risk Likely pathogenic —
RS199977728 CTNS Health Risk Conflicting classifications of pathogenicity Ocular cystinosis, Nephropathic cystinosis
RS199977856 SERPINF1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type 6, SERPINF1-related disorder
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