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
RS138527121 TSC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS1385274120 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS138527421 TCIRG1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive osteopetrosis 1, TCIRG1-related disorder
RS138527651 TMC1 Health Risk Pathogenic/Likely pathogenic Rare genetic deafness, Autosomal recessive nonsyndromic hearing loss 7
RS1385277579 ADGRV1 Health Risk Pathogenic —
RS1385279115 BAP1 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS138528064 INSR Health Risk Conflicting classifications of pathogenicity INSR-related disorder, INSR-related disorder
RS1385280819 SYNE1 Health Risk Pathogenic/Likely pathogenic Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS138528126 PMM2 Health Risk Conflicting classifications of pathogenicity PMM2-congenital disorder of glycosylation, PMM2-congenital disorder of glycosylation
RS138528690 DOP1B Health Risk Conflicting classifications of pathogenicity —
RS138529008 CFHR5 Health Risk Conflicting classifications of pathogenicity CFHR5 deficiency, CFHR5 deficiency
RS138529143 TOPBP1 Health Risk Conflicting classifications of pathogenicity TOPBP1-related disorder, TOPBP1-related disorder
RS1385305489 TMEM260 Health Risk Pathogenic —
RS1385318543 SGSH Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-III-A
RS1385319298 SLC6A1 Health Risk Pathogenic Epilepsy with myoclonic atonic seizures, Epilepsy with myoclonic atonic seizures
RS138532294 ERCC4 Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group Q, Xeroderma pigmentosum
RS1385324903 MYO7A Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 2, Usher syndrome type 1
RS1385333276 ATP7A Health Risk Conflicting classifications of pathogenicity Menkes kinky-hair syndrome, Cutis laxa
RS1385335623 HERC2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS138533702 COL3A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, type 4
RS138534367 RAB33B Health Risk Conflicting classifications of pathogenicity Smith-McCort dysplasia 2, Smith-McCort dysplasia 2
RS1385347376 CNGB3 Health Risk Pathogenic Achromatopsia 3, Achromatopsia 3
RS138534976 TSFM Health Risk Conflicting classifications of pathogenicity Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3, Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
RS138536873 XPA Health Risk Pathogenic —
RS1385373190 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS138537887 DDR2 Health Risk Conflicting classifications of pathogenicity DDR2-related disorder, Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
RS138538072 PKP2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 9, Cardiovascular phenotype
RS138538426 MTRFR Health Risk Conflicting classifications of pathogenicity Combined oxidative phosphorylation defect type 7, Spastic paraplegia
RS138538492 SETX Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia
RS1385395822 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS138539682 FREM2 Health Risk Conflicting classifications of pathogenicity Isolated cryptophthalmia, Fraser syndrome 2
RS138539686 MAX Health Risk Conflicting classifications of pathogenicity Hereditary pheochromocytoma and paraganglioma, Hereditary cancer-predisposing syndrome
RS1385397608 ARMC5 Health Risk Conflicting classifications of pathogenicity ACTH-independent macronodular adrenal hyperplasia 2, ACTH-independent macronodular adrenal hyperplasia 2
RS138540017 LAMB2 Health Risk Conflicting classifications of pathogenicity Pierson syndrome, LAMB2-related infantile-onset nephrotic syndrome
RS138540027 RANBP2 Health Risk Conflicting classifications of pathogenicity Familial acute necrotizing encephalopathy, Familial acute necrotizing encephalopathy
RS138541569 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS138541733 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
RS138542210 BLM Health Risk Conflicting classifications of pathogenicity Bloom syndrome, Hereditary cancer-predisposing syndrome
RS138542858 ADGRA3 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS138543433 ZFYVE26 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 15, Spastic paraplegia
RS138543813 USH2A Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 39, Usher syndrome type 2A
RS138543822 ANKRD11 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, KBG syndrome
RS138543824 PCNT Health Risk Conflicting classifications of pathogenicity Microcephalic osteodysplastic primordial dwarfism type II, PCNT-related disorder
RS138544284 VIPAS39 Health Risk Conflicting classifications of pathogenicity —
RS138544311 DPAGT1 Health Risk Conflicting classifications of pathogenicity DPAGT1-congenital disorder of glycosylation, Congenital myasthenic syndrome 13
RS1385450866 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS138545154 PEX13 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 11A (Zellweger), Peroxisome biogenesis disorder 11B
RS138545198 CUBN Health Risk Conflicting classifications of pathogenicity Imerslund-Grasbeck syndrome type 1, Imerslund-Grasbeck syndrome
RS138545671 OTOF Health Risk Conflicting classifications of pathogenicity —
RS138545772 PHOX2B Health Risk Conflicting classifications of pathogenicity Congenital central hypoventilation, Hereditary cancer-predisposing syndrome
RS138546034 KANK1 Health Risk Conflicting classifications of pathogenicity —
RS1385460652 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS138546275 ATP13A2 Health Risk Conflicting classifications of pathogenicity Kufor-Rakeb syndrome, Autosomal recessive spastic paraplegia type 78
RS138546433 SIM1 Health Risk Conflicting classifications of pathogenicity Monogenic diabetes, Obesity due to SIM1 deficiency
RS138546465 NBAS Health Risk Likely pathogenic NBAS-related disorder, Infantile liver failure syndrome 2
RS1385465985 ACAT1 Health Risk Likely pathogenic Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase
RS138547261 NHERF1 Health Risk Conflicting classifications of pathogenicity Dominant hypophosphatemia with nephrolithiasis or osteoporosis, Clear cell carcinoma of kidney
RS1385473515 SGSH Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-III-A
RS138547659 BLK Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young type 11, Maturity-onset diabetes of the young type 11
RS138547889 TPRN Health Risk Conflicting classifications of pathogenicity Hearing impairment, Hearing impairment
RS1385489500 EPCAM Health Risk Pathogenic EPCAM-related disorder, EPCAM-related disorder
RS1385508131 KMT2A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS138551008 KCNQ1 Health Risk Pathogenic Long QT syndrome, Cardiovascular phenotype
RS138551288 GRM6 Health Risk Conflicting classifications of pathogenicity Congenital stationary night blindness 1B, Congenital stationary night blindness 1B
RS138551616 NCAPD3 Health Risk Conflicting classifications of pathogenicity Microcephaly 22, primary
RS1385527728 ZNF341 Health Risk Pathogenic —
RS1385531173 ACAD9 Health Risk Pathogenic —
RS138553142 DST Health Risk Conflicting classifications of pathogenicity Hereditary sensory and autonomic neuropathy type 6, Epidermolysis bullosa simplex 3
RS138553193 COL4A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS138553244 SPRED1 Health Risk Conflicting classifications of pathogenicity Legius syndrome, Noonan syndrome and Noonan-related syndrome
RS138553789 FAT2 Health Risk Conflicting classifications of pathogenicity —
RS1385550193 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS138555030 LZTS1 Health Risk Conflicting classifications of pathogenicity —
RS138555114 WDR72 Health Risk Conflicting classifications of pathogenicity WDR72-related disorder, Inborn genetic diseases
RS138555160 SOS1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, RASopathy
RS138555701 ARMC9 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS138555898 GALNS Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-IV-A
RS138556525 MAT1A Health Risk Pathogenic Hepatic methionine adenosyltransferase deficiency, MAT1A-related disorder
RS138557594 COL1A1 Health Risk Conflicting classifications of pathogenicity Infantile cortical hyperostosis, Ehlers-Danlos syndrome
RS138557828 RAD51D Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS138558321 SHROOM2 Health Risk Likely pathogenic Meniere disease, Meniere disease
RS138558359 MID1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, MID1-related disorder
RS1385589233 TBX22 Health Risk Conflicting classifications of pathogenicity TBX22-related disorder, TBX22-related disorder
RS1385591764 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1385597423 MMADHC Health Risk Likely pathogenic Methylmalonic aciduria and homocystinuria type cblD, Methylmalonic aciduria and homocystinuria type cblD
RS138559945 SLC1A3 Health Risk Conflicting classifications of pathogenicity —
RS138560523 TTN Health Risk Conflicting classifications of pathogenicity Myopathy, myofibrillar
RS1385606496 EYS Health Risk Conflicting classifications of pathogenicity —
RS1385608948 CHRNE Health Risk Likely pathogenic Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4A
RS1385620748 ANK2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS1385625521 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS1385634398 SLC22A5 Health Risk Conflicting classifications of pathogenicity Renal carnitine transport defect, Renal carnitine transport defect
RS138564183 SI Health Risk Conflicting classifications of pathogenicity Sucrase-isomaltase deficiency, Sucrase-isomaltase deficiency
RS138564205 POLE Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS1385646650 COL6A1 Health Risk Pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS138564815 ADAMTS2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, dermatosparaxis type
RS1385652944 PLG Health Risk Pathogenic —
RS138565447 ATP2A1 Health Risk Conflicting classifications of pathogenicity Brody myopathy, ATP2A1-related disorder
RS1385656085 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS1385657144 TLR8 Health Risk Pathogenic INFLTR8, Immunodeficiency 98 with autoinflammation
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