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
RS779155501 SI Health Risk Conflicting classifications of pathogenicity Sucrase-isomaltase deficiency, Sucrase-isomaltase deficiency
RS779155693 USH2A Health Risk Pathogenic —
RS779159301 PHGDH Health Risk Pathogenic PHGDH deficiency, PHGDH deficiency
RS779160677 SLC12A3 Health Risk Pathogenic Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS779161471 XPA Health Risk Conflicting classifications of pathogenicity Xeroderma pigmentosum group A, Xeroderma pigmentosum group A
RS779161525 CDK4 Health Risk Conflicting classifications of pathogenicity Familial melanoma, Hereditary cancer-predisposing syndrome
RS779161941 DMD Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 3B, Duchenne muscular dystrophy
RS779162662 SLC39A13 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, spondylocheirodysplastic type
RS779162837 SELENON Health Risk Pathogenic/Likely pathogenic Eichsfeld type congenital muscular dystrophy, Eichsfeld type congenital muscular dystrophy
RS779164170 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS779165268 PCDH15 Health Risk Pathogenic/Likely pathogenic Usher syndrome type 1F, Autosomal recessive nonsyndromic hearing loss 23
RS779165681 ROR2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive Robinow syndrome, Inborn genetic diseases
RS779166996 DLD Health Risk Conflicting classifications of pathogenicity Pyruvate dehydrogenase E3 deficiency, Leigh syndrome
RS779168950 PKHD1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS779169052 HIVEP2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS779169360 LRMDA Health Risk Pathogenic —
RS779169597 CHRNA1 Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome, Lethal multiple pterygium syndrome
RS779169631 RHO Health Risk Pathogenic Retinitis pigmentosa 4, Retinitis pigmentosa
RS779169990 DSE Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, musculocontractural type 2
RS779170016 LRRK1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS779170307 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS779170531 BICD2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures, Inborn genetic diseases
RS779170635 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS779170859 AGRN Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 8, Inborn genetic diseases
RS779172263 ASNS Health Risk Pathogenic —
RS779172459 CDKN1C Health Risk Conflicting classifications of pathogenicity Beckwith-Wiedemann syndrome, Beckwith-Wiedemann syndrome
RS779173742 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy
RS779174182 SPTA1 Health Risk Pathogenic Hereditary spherocytosis type 3, Hereditary spherocytosis type 3
RS779174212 CD46 Health Risk Conflicting classifications of pathogenicity Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly, Atypical hemolytic-uremic syndrome
RS779175158 DNAI1 Health Risk Conflicting classifications of pathogenicity Kartagener syndrome, Primary ciliary dyskinesia
RS779175503 LSS Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, LSS-related disorder
RS77917609 PRX Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4F
RS779176291 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS779177972 CFTR Health Risk Pathogenic/Likely pathogenic Cystic fibrosis, Bronchiectasis with or without elevated sweat chloride 1
RS779178615 ARHGAP29 Health Risk Conflicting classifications of pathogenicity ARHGAP29-related disorder, Cleft palate
RS77917884 NF1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Neurofibromatosis
RS779179398 GSN Health Risk Conflicting classifications of pathogenicity —
RS779179608 BLM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Bloom syndrome
RS779179610 SBDS Health Risk Conflicting classifications of pathogenicity Shwachman-Diamond syndrome 1, Shwachman-Diamond syndrome 1
RS779179710 IFT80 Health Risk Pathogenic/Likely pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS779180385 APOA1 Health Risk Conflicting classifications of pathogenicity Hypoalphalipoproteinemia, primary
RS779180469 MSH3 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Endometrial carcinoma
RS779180512 ASXL1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS779181976 FGFR3 Health Risk Conflicting classifications of pathogenicity Connective tissue disorder, Connective tissue disorder
RS779182119 NBAS Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS779182344 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS779182536 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS779184118 SCN1A Health Risk Likely pathogenic Generalized epilepsy with febrile seizures plus, type 2
RS779184183 HNF1A Health Risk Pathogenic Diabetes mellitus, Monogenic diabetes
RS779184435 GARS1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2D, Distal spinal muscular atrophy
RS779184516 FLNC Health Risk Conflicting classifications of pathogenicity Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26
RS779184831 PALB2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS779184954 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS779186692 PIEZO1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS779187034 COL11A2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS779187338 GHRHR Health Risk Pathogenic/Likely pathogenic Isolated growth hormone deficiency, type 4
RS779187578 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS779187915 GPC3 Health Risk Conflicting classifications of pathogenicity Wilms tumor 1, Inborn genetic diseases
RS779188563 MYO5B Health Risk Likely pathogenic Congenital microvillous atrophy, Congenital microvillous atrophy
RS779188587 ACE Health Risk Pathogenic Renal tubular dysgenesis, Hemorrhage
RS779189159 SON Health Risk Pathogenic ZTTK syndrome, ZTTK syndrome
RS779190356 APOB Health Risk Pathogenic Hypercholesterolemia, autosomal dominant
RS779190582 ZBTB20 Health Risk Conflicting classifications of pathogenicity —
RS779191310 COQ2 Health Risk Conflicting classifications of pathogenicity Kidney disorder, Kidney disorder
RS779192156 IFIH1 Health Risk Conflicting classifications of pathogenicity Aicardi-Goutieres syndrome 7, Singleton-Merten syndrome 1
RS779193065 ACTN2 Health Risk Conflicting classifications of pathogenicity Primary familial hypertrophic cardiomyopathy, Dilated cardiomyopathy 1AA
RS779193240 CDKN1B Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia type 4, Hereditary cancer-predisposing syndrome
RS779193823 PUS1 Health Risk Pathogenic Myopathy, lactic acidosis
RS779194599 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Charcot-Marie-Tooth disease axonal type 2O
RS779195622 SACS Health Risk Conflicting classifications of pathogenicity Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS779195648 FLNB Health Risk Conflicting classifications of pathogenicity Spondylocarpotarsal synostosis syndrome, Spondylocarpotarsal synostosis syndrome
RS779196500 TP53 Health Risk Conflicting classifications of pathogenicity Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome
RS779196557 RECQL4 Health Risk Pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
RS779197965 SLC38A8 Health Risk Likely pathogenic —
RS779198396 HSD17B4 Health Risk Conflicting classifications of pathogenicity Bifunctional peroxisomal enzyme deficiency, Perrault syndrome 1
RS779199009 WFS1 Health Risk Uncertain significance/Uncertain risk allele Wolfram syndrome 1, Autosomal dominant nonsyndromic hearing loss 6
RS779199376 DOCK8 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Combined immunodeficiency due to DOCK8 deficiency
RS779199750 BSCL2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Inborn genetic diseases
RS779200901 SVIL Health Risk Conflicting classifications of pathogenicity —
RS779202876 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Familial thoracic aortic aneurysm and aortic dissection
RS779203584 GAN Health Risk Likely pathogenic Intellectual disability, Squamous cell carcinoma of the head and neck
RS779204655 SPR Health Risk Pathogenic Dopa-responsive dystonia due to sepiapterin reductase deficiency, Dystonic disorder
RS779205550 C8B Health Risk Pathogenic/Likely pathogenic Type II complement component 8 deficiency, Type II complement component 8 deficiency
RS779205636 PIGL Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS779206858 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Hypertrophic cardiomyopathy 9
RS779208888 GRHPR Health Risk Likely pathogenic Primary hyperoxaluria, type II
RS779209474 FN1 Health Risk Conflicting classifications of pathogenicity Glomerulopathy with fibronectin deposits 2, Spondylometaphyseal dysplasia - Sutcliffe type
RS779211043 MERTK Health Risk Pathogenic Retinitis pigmentosa 38, Retinitis pigmentosa 38
RS779212218 PRMT7 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS779214753 RFX5 Health Risk Pathogenic MHC class II deficiency, MHC class II deficiency
RS779215330 SLC12A3 Health Risk Pathogenic Familial hypokalemia-hypomagnesemia, Renal tubulopathies
RS779215492 CACNA1C Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Long QT syndrome
RS779215527 ALG12 Health Risk Conflicting classifications of pathogenicity ALG12-congenital disorder of glycosylation, ALG12-congenital disorder of glycosylation
RS779215778 DZIP1L Health Risk Pathogenic —
RS779218281 SHOC2 Health Risk Conflicting classifications of pathogenicity RASopathy, Cardiovascular phenotype
RS779218846 NANS Health Risk Pathogenic/Likely pathogenic Spondyloepimetaphyseal dysplasia, Genevieve type
RS779219028 GRIN2A Health Risk Likely pathogenic Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS779219568 PKD1 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease, adult type
RS779220022 SLC25A13 Health Risk Likely pathogenic Citrullinemia, type II
RS779221807 CACNA1A Health Risk Pathogenic Episodic ataxia type 2, Developmental and epileptic encephalopathy
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