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
RS142090504 SI Health Risk Conflicting classifications of pathogenicity Sucrase-isomaltase deficiency, Sucrase-isomaltase deficiency
RS142090517 CRB1 Health Risk Conflicting classifications of pathogenicity Pigmented paravenous retinochoroidal atrophy, Leber congenital amaurosis 8
RS142090631 ROBO3 Health Risk Conflicting classifications of pathogenicity Gaze palsy, familial horizontal
RS142090771 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
RS142091094 TACC2 Health Risk Conflicting classifications of pathogenicity —
RS1420914249 DMD Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS142092069 ACSF3 Health Risk Conflicting classifications of pathogenicity Methylmalonic acidemia, Combined malonic and methylmalonic acidemia
RS1420924484 PTPN11 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular cardiomyopathy, Cardiovascular phenotype
RS1420929225 EYS Health Risk Likely pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS1420930266 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1420930684 DYSF Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS142093432 STEAP3 Health Risk Conflicting classifications of pathogenicity —
RS1420939606 VRK1 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Pontocerebellar hypoplasia type 1A
RS1420940583 CRPPA Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A
RS142094090 AARS2 Health Risk Conflicting classifications of pathogenicity Combined oxidative phosphorylation defect type 8, Inborn genetic diseases
RS142094234 SOS1 Health Risk Conflicting classifications of pathogenicity Noonan syndrome and Noonan-related syndrome, RASopathy
RS142095604 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Myopathy
RS142095932 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Hypogonadotropic hypogonadism 5 with or without anosmia
RS142095937 ACADSB Health Risk Conflicting classifications of pathogenicity Deficiency of 2-methylbutyryl-CoA dehydrogenase, ACADSB-related disorder
RS142095945 USH2A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2A, Retinitis pigmentosa
RS142096113 TIMMDC1 Health Risk Conflicting classifications of pathogenicity See cases, Mitochondrial complex I deficiency
RS142096411 PKP1 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex due to plakophilin deficiency, Inborn genetic diseases
RS142096497 ELP1 Health Risk Conflicting classifications of pathogenicity Familial dysautonomia, Familial dysautonomia
RS142096969 KANSL1 Health Risk Conflicting classifications of pathogenicity Koolen-de Vries syndrome, Koolen-de Vries syndrome
RS142097048 LRPPRC Health Risk Conflicting classifications of pathogenicity Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
RS142097249 ERCC6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1420974027 CEP290 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome 14, Nephronophthisis
RS142097614 SPG11 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 11, Inborn genetic diseases
RS142097643 ADGRV1 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS142097792 CTSK Health Risk Conflicting classifications of pathogenicity Pyknodysostosis, Pyknodysostosis
RS1420999724 BEST1 Health Risk Likely pathogenic —
RS1421001042 MYRF Health Risk Pathogenic —
RS142100377 NSD2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1421005631 ATP2A1 Health Risk Pathogenic Brody myopathy, ATP2A1-related disorder
RS1421007019 MTRR Health Risk Pathogenic Methylcobalamin deficiency type cblE, Neural tube defects
RS1421008948 ERCC6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1421013566 CHD8 Health Risk Conflicting classifications of pathogenicity —
RS142101613 TRIM37 Health Risk Conflicting classifications of pathogenicity Mulibrey nanism syndrome, Mulibrey nanism syndrome
RS1421020011 TONSL Health Risk Pathogenic —
RS142102094 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
RS1421021643 PCCA Health Risk Likely pathogenic Propionic acidemia, Propionic acidemia
RS142102185 MED13L Health Risk Conflicting classifications of pathogenicity Dextro-looped transposition of the great arteries, Cardiac anomalies - developmental delay - facial dysmorphism syndrome
RS142102801 SPTA1 Health Risk Conflicting classifications of pathogenicity Hereditary spherocytosis type 3, Elliptocytosis 2
RS142102852 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, COL6A1-related disorder
RS142103232 PALB2 Health Risk Pathogenic/Likely pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS142103808 WDR35 Health Risk Conflicting classifications of pathogenicity Short-rib thoracic dysplasia 7 with or without polydactyly, Cranioectodermal dysplasia 2
RS1421044140 BBS1 Health Risk Likely pathogenic Bardet-Biedl syndrome 1, Bardet-Biedl syndrome 1
RS1421046512 ZSWIM6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1421049695 SETX Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 4, Inborn genetic diseases
RS142105943 STXBP2 Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 5, Autoinflammatory syndrome
RS142106072 DSG4 Health Risk Conflicting classifications of pathogenicity Hypotrichosis 6, DSG4-related disorder
RS1421061751 CEP152 Health Risk Pathogenic Microcephaly 9, primary
RS142106322 SLC2A10 Health Risk Conflicting classifications of pathogenicity Arterial tortuosity syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS142106374 IFT140 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Retinitis pigmentosa 80
RS1421066733 SUMF1 Health Risk Pathogenic/Likely pathogenic Multiple sulfatase deficiency, Multiple sulfatase deficiency
RS1421067964 CDH1 Health Risk Pathogenic Hereditary diffuse gastric adenocarcinoma, Hereditary diffuse gastric adenocarcinoma
RS142107837 PKHD1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS142108058 COL7A1 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa dystrophica inversa, autosomal recessive
RS142108410 COL10A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1421085 FTO Health Risk risk factor OBESITY (BMIQ14), SUSCEPTIBILITY TO
RS142109115 CDHR1 Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy 15, Cone-rod dystrophy 15
RS142109326 TRRAP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1421095081 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy
RS142110082 VPS13B Health Risk Conflicting classifications of pathogenicity Cohen syndrome, VPS13B-related disorder
RS142110258 SGO1 Health Risk Conflicting classifications of pathogenicity Clear cell carcinoma of kidney, Lung cancer
RS142110773 DDC Health Risk Pathogenic/Likely pathogenic Deficiency of aromatic-L-amino-acid decarboxylase, Deficiency of aromatic-L-amino-acid decarboxylase
RS142111099 OTOF Health Risk Likely pathogenic Nonsyndromic genetic hearing loss, Nonsyndromic genetic hearing loss
RS142111387 MSH6 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1421126665 RINT1 Health Risk Pathogenic —
RS142113044 GRIN2A Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS142113652 SOX10 Health Risk Conflicting classifications of pathogenicity PCWH syndrome, Hearing impairment
RS142114129 FLNB Health Risk Conflicting classifications of pathogenicity FLNB-Related Spectrum Disorders, Connective tissue disorder
RS142114385 FGD1 Health Risk Conflicting classifications of pathogenicity FGD1-related disorder, FGD1-related disorder
RS142114415 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS142114921 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS1421156255 EVC2 Health Risk Pathogenic Curry-Hall syndrome, Ellis-van Creveld syndrome
RS142115849 ABCC9 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1O, Cardiovascular phenotype
RS1421161193 PANK2 Health Risk Pathogenic Pigmentary pallidal degeneration, Pigmentary pallidal degeneration
RS142116575 PALLD Health Risk Conflicting classifications of pathogenicity Pancreatic cancer, susceptibility to
RS142116851 LAMB2 Health Risk Conflicting classifications of pathogenicity Pierson syndrome, LAMB2-related infantile-onset nephrotic syndrome
RS142117628 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS1421192810 ASNS Health Risk Pathogenic —
RS1421201736 ABCC9 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Dilated cardiomyopathy 1O
RS1421202562 ITSN1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS142120301 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS142120325 CUBN Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Imerslund-Grasbeck syndrome type 1
RS1421203572 ADNP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1421204500 SETD5 Health Risk Pathogenic/Likely pathogenic Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency, SETD5-related disorder
RS142120579 SPTAN1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Early-infantile DEE
RS142120825 HADHA Health Risk Pathogenic Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
RS142120839 JPH3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS142121434 PEX2 Health Risk Likely pathogenic Peroxisome biogenesis disorder 5A (Zellweger), Peroxisome biogenesis disorder 5A (Zellweger)
RS142121495 POLG2 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia, Hereditary spastic paraplegia
RS1421217117 NPHS2 Health Risk Likely pathogenic Nephrotic syndrome, type 2
RS142122118 EYA4 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1J, Cardiovascular phenotype
RS142122217 TSHR Health Risk Conflicting classifications of pathogenicity Familial hyperthyroidism due to mutations in TSH receptor, Hypothyroidism due to TSH receptor mutations
RS142123586 VANGL1 Health Risk Conflicting classifications of pathogenicity Neural tube defect, Sacral defect with anterior meningocele
RS142123958 NEUROD1 Health Risk Conflicting classifications of pathogenicity NEUROD1-related disorder, NEUROD1-related disorder
RS142124529 MLH3 Health Risk Conflicting classifications of pathogenicity Lynch syndrome, Colorectal cancer
RS1421256041 SDHA Health Risk Conflicting classifications of pathogenicity Pheochromocytoma/paraganglioma syndrome 5, Mitochondrial complex II deficiency
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