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
RS1404077821 NPC2 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type C2
RS1404084330 PGM3 Health Risk Pathogenic Immunodeficiency 23, PGM3-related disorder
RS1404085371 ADGRV1 Health Risk Pathogenic —
RS140408680 NR5A1 Health Risk Conflicting classifications of pathogenicity —
RS1404087769 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS140408926 MYH8 Health Risk Conflicting classifications of pathogenicity Hecht syndrome, Hecht syndrome
RS140409443 FLAD1 Health Risk Conflicting classifications of pathogenicity —
RS1404094905 PCDH15 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 23, Autosomal recessive nonsyndromic hearing loss 23
RS140410001 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS140410062 RIPOR2 Health Risk Conflicting classifications of pathogenicity —
RS140410716 ECHS1 Health Risk Conflicting classifications of pathogenicity Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency, ECHS1-related disorder
RS140411078 BBS9 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome 9, Bardet-Biedl syndrome
RS140411308 RTEL1 Health Risk Pathogenic Dyskeratosis congenita, autosomal recessive 5
RS140411575 MTRFR Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Combined oxidative phosphorylation defect type 7
RS140412064 FANCA Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS140413151 HADH Health Risk Conflicting classifications of pathogenicity Monogenic diabetes, Deficiency of 3-hydroxyacyl-CoA dehydrogenase
RS1404131978 ALG12 Health Risk Pathogenic ALG12-congenital disorder of glycosylation, ALG12-congenital disorder of glycosylation
RS140413256 SDCCAG8 Health Risk Conflicting classifications of pathogenicity Senior-Loken syndrome 7, Bardet-Biedl syndrome 16
RS1404132920 SZT2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1404133653 FBN1 Health Risk Pathogenic/Likely pathogenic Marfan syndrome, Marfan syndrome
RS1404134749 COL11A2 Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 53, Autosomal recessive nonsyndromic hearing loss 53
RS140414666 SMARCE1 Health Risk Conflicting classifications of pathogenicity Familial meningioma, Coffin-Siris syndrome 5
RS1404150675 FANCG Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group G, Fanconi anemia
RS1404157087 ERCC3 Health Risk Likely pathogenic Xeroderma pigmentosum group B, Xeroderma pigmentosum group B
RS140416149 MTPAP Health Risk Conflicting classifications of pathogenicity Spastic ataxia 4, Inborn genetic diseases
RS140416280 PCNT Health Risk Conflicting classifications of pathogenicity PCNT-related disorder, PCNT-related disorder
RS1404170214 CARD11 Health Risk Pathogenic Severe combined immunodeficiency due to CARD11 deficiency, BENTA disease
RS140417066 NDUFB9 Health Risk Conflicting classifications of pathogenicity NDUFB9-related disorder, NDUFB9-related disorder
RS140419130 RPS26 Health Risk Pathogenic Diamond-Blackfan anemia 10, Diamond-Blackfan anemia 10
RS140419673 CNGA1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, CNGA1-related disorder
RS1404199426 SLC22A12 Health Risk Likely pathogenic Dalmatian hypouricemia, Dalmatian hypouricemia
RS1404206532 LIFR Health Risk Likely pathogenic —
RS140421233 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS1404214090 DCLRE1C Health Risk Pathogenic/Likely pathogenic Histiocytic medullary reticulosis, Severe combined immunodeficiency due to DCLRE1C deficiency
RS1404214519 BRAT1 Health Risk Conflicting classifications of pathogenicity Neonatal-onset encephalopathy with rigidity and seizures, Neonatal-onset encephalopathy with rigidity and seizures
RS1404218188 ABCG5 Health Risk Pathogenic Sitosterolemia, Sitosterolemia
RS1404218898 TMBIM1 Health Risk Likely pathogenic Moyamoya angiopathy, Moyamoya angiopathy
RS1404223383 ACE Health Risk Likely pathogenic Renal tubular dysgenesis of genetic origin, Hemorrhage
RS1404226085 MANBA Health Risk Pathogenic Beta-D-mannosidosis, Beta-D-mannosidosis
RS140422926 GRIN1 Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
RS140423185 DSG4 Health Risk Conflicting classifications of pathogenicity Hypotrichosis 6, Inborn genetic diseases
RS140423883 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS1404239957 CAPN1 Health Risk Pathogenic —
RS140424742 FLG Health Risk Conflicting classifications of pathogenicity Ichthyosis vulgaris, Inborn genetic diseases
RS1404249010 LRBA Health Risk Likely pathogenic Combined immunodeficiency due to LRBA deficiency, Combined immunodeficiency due to LRBA deficiency
RS140424976 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS140425651 CAPN3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A
RS1404269505 CACNA1B Health Risk Likely pathogenic —
RS1404271039 COL4A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Brain small vessel disease 1 with or without ocular anomalies
RS140427193 SZT2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1404276011 ASPM Health Risk Pathogenic Microcephaly 5, primary
RS140427635 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Collagen 6-related myopathy
RS1404280764 FAS Health Risk Likely pathogenic Autoimmune lymphoproliferative syndrome type 1, Autoimmune lymphoproliferative syndrome type 1
RS140428156 CRB1 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 8, Retinitis pigmentosa 12
RS140428713 ZFR Health Risk Conflicting classifications of pathogenicity Pure or complex autosomal recessive spastic paraplegia, Pure or complex autosomal recessive spastic paraplegia
RS1404293670 ERCC3 Health Risk Pathogenic Xeroderma pigmentosum group B, Xeroderma pigmentosum group B
RS140429638 EFHC1 Health Risk Conflicting classifications of pathogenicity Absence seizure, Myoclonic epilepsy
RS1404298787 ANOS1 Health Risk Pathogenic Hypogonadotropic hypogonadism 1 with or without anosmia, Hypogonadotropic hypogonadism 1 with or without anosmia
RS1404302953 NLRP12 Health Risk Pathogenic Familial cold autoinflammatory syndrome 2, Familial cold autoinflammatory syndrome 2
RS1404303337 C6 Health Risk Pathogenic —
RS140430822 HPS4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, HPS4-related disorder
RS140430952 TGDS Health Risk Pathogenic/Likely pathogenic Catel-Manzke syndrome, Inborn genetic diseases
RS1404321683 CHAT Health Risk Pathogenic Familial infantile myasthenia, Familial infantile myasthenia
RS140433374 RHBDF2 Health Risk Conflicting classifications of pathogenicity Palmoplantar keratoderma-esophageal carcinoma syndrome, Palmoplantar keratoderma-esophageal carcinoma syndrome
RS1404334125 HNF4A Health Risk Likely pathogenic Maturity-onset diabetes of the young type 1, Maturity-onset diabetes of the young type 1
RS140434009 MYH7 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiomyopathy
RS140434436 LYST Health Risk Conflicting classifications of pathogenicity Chédiak-Higashi syndrome, Autoinflammatory syndrome
RS1404350628 MCCC1 Health Risk Conflicting classifications of pathogenicity 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency
RS140435235 FOCAD Health Risk Conflicting classifications of pathogenicity FOCAD-related disorder, Inborn genetic diseases
RS1404353688 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS140435478 KCNH1 Health Risk Conflicting classifications of pathogenicity KCNH1-related disorder, Inborn genetic diseases
RS1404356337 IFT140 Health Risk Pathogenic IFT140-related disorder, Renal cyst
RS140436564 CSF2RB Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1404368172 ADGRV1 Health Risk Pathogenic —
RS140437150 LOXHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 77, Autosomal recessive nonsyndromic hearing loss 77
RS140437526 UNC13D Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 3, Inborn genetic diseases
RS140437593 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
RS1404389752 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS140440387 CALR3 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 19, Hypertrophic cardiomyopathy 19
RS1404404094 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS1404406222 ETFDH Health Risk Likely pathogenic Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS140440910 TCOF1 Health Risk Conflicting classifications of pathogenicity Treacher Collins syndrome 1, Treacher Collins syndrome 1
RS1404412704 VLDLR Health Risk Likely pathogenic Cerebellar ataxia, intellectual disability
RS140441389 PDE6B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS140441758 GAA Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type II
RS140441798 COL6A3 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A
RS140442435 DNAH8 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1404425302 KCNJ10 Health Risk Likely pathogenic SeSAME-like syndrome, SeSAME-like syndrome
RS1404426202 MYH3 Health Risk Likely pathogenic —
RS1404429785 KCNJ11 Health Risk Conflicting classifications of pathogenicity Hyperinsulinemic hypoglycemia, familial
RS140443203 TMPRSS3 Health Risk Conflicting classifications of pathogenicity —
RS140443495 XYLT2 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta, XYLT2-related disorder
RS140445039 CD19 Health Risk Conflicting classifications of pathogenicity Immunodeficiency, common variable
RS140445386 NDUFV1 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 1
RS140446520 NPHP1 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Joubert syndrome with renal defect
RS140446828 SPTB Health Risk Pathogenic/Likely pathogenic —
RS1404470949 COL1A1 Health Risk Likely pathogenic Osteogenesis imperfecta, perinatal lethal
RS140447165 MYO1E Health Risk Conflicting classifications of pathogenicity Microscopic hematuria, Kidney disorder
RS140447217 D2HGDH Health Risk Conflicting classifications of pathogenicity D-2-hydroxyglutaric aciduria 1, D2HGDH-related disorder
RS1404473412 CHEK2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
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