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
RS1410139220 PHKG2 Health Risk Pathogenic Glycogen storage disease IXc, Glycogen storage disease IXc
RS141014337 NSD1 Health Risk Conflicting classifications of pathogenicity NSD1-related disorder, NSD1-related disorder
RS141014620 CPLANE1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 17, Joubert syndrome 17
RS141014694 TRPM6 Health Risk Conflicting classifications of pathogenicity Intestinal hypomagnesemia 1, Intestinal hypomagnesemia 1
RS141014950 GLDC Health Risk Conflicting classifications of pathogenicity Glycine encephalopathy, Glycine encephalopathy
RS1410153662 SAMHD1 Health Risk Likely pathogenic Aicardi-Goutieres syndrome 5, Aicardi-Goutieres syndrome 5
RS141015632 PKD1L1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1410159094 GALT Health Risk Pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
RS141016088 ABCG5 Health Risk Conflicting classifications of pathogenicity Sitosterolemia, Sitosterolemia 1
RS1410163756 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Tuberous sclerosis 2
RS141016377 RET Health Risk Conflicting classifications of pathogenicity Renal hypodysplasia/aplasia 1, Multiple endocrine neoplasia
RS141016843 KCNK17 Health Risk Likely pathogenic —
RS141017435 TBX18 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Congenital anomalies of kidney and urinary tract 2
RS141019064 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Charlevoix-Saguenay spastic ataxia
RS141019458 TCAP Health Risk Pathogenic/Likely pathogenic Hypertrophic cardiomyopathy 25, Primary familial hypertrophic cardiomyopathy
RS1410198544 PTEN Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, PTEN hamartoma tumor syndrome
RS141020107 ATPAF2 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1
RS141020933 WFS1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 6, WFS1-Related Spectrum Disorders
RS141021167 SPTBN2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS141021599 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 1
RS141021600 SCN4A Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 16, Potassium-aggravated myotonia
RS141021604 NTRK1 Health Risk Conflicting classifications of pathogenicity Hereditary insensitivity to pain with anhidrosis, Inborn genetic diseases
RS141021828 COL6A2 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A
RS1410220838 COLQ Health Risk Likely pathogenic Congenital myasthenic syndrome 5, Congenital myasthenic syndrome 5
RS1410228904 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS141023125 COL11A2 Health Risk Pathogenic —
RS1410232200 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1410236197 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Kabuki syndrome
RS1410236296 NPHP1 Health Risk Pathogenic/Likely pathogenic Nephronophthisis, Nephronophthisis 1
RS141023728 MACF1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS141023798 HPS3 Health Risk Pathogenic Hepatocellular carcinoma, Hepatocellular carcinoma
RS1410239766 RARS2 Health Risk Pathogenic/Likely pathogenic Pontocerebellar hypoplasia type 6, Pontoneocerebellar hypoplasia
RS141024271 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS1410247657 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS141025026 MACF1 Health Risk Conflicting classifications of pathogenicity Spectraplakinopathy type I, Inborn genetic diseases
RS141025408 PHKG2 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease IXc, Inborn genetic diseases
RS1410254723 COL1A2 Health Risk Pathogenic/Likely pathogenic Osteogenesis imperfecta type I, Ehlers-Danlos syndrome
RS141025803 CEP41 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 15, Familial Autism Spectrum Disorder
RS141025897 ABCC9 Health Risk Pathogenic Hypertrichotic osteochondrodysplasia Cantu type, Dilated cardiomyopathy 1O
RS141026028 DSP Health Risk Pathogenic/Likely pathogenic Cardiovascular phenotype, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS141026455 ADAMTS18 Health Risk Conflicting classifications of pathogenicity ADAMTS18-related disorder, Inborn genetic diseases
RS1410266677 NFKB1 Health Risk Pathogenic —
RS1410270058 ADSL Health Risk Pathogenic Adenylosuccinate lyase deficiency, Adenylosuccinate lyase deficiency
RS141027782 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS141028076 SLC25A15 Health Risk Conflicting classifications of pathogenicity Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome, Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
RS141028210 KIF7 Health Risk Conflicting classifications of pathogenicity Acrocallosal syndrome, Acrocallosal syndrome
RS1410289192 SKI Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Shprintzen-Goldberg syndrome
RS141029883 TMEM138 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 16, Inborn genetic diseases
RS141030526 ACTA1 Health Risk Conflicting classifications of pathogenicity Actin accumulation myopathy, Congenital myopathy with fiber type disproportion
RS141030969 MCCC2 Health Risk Pathogenic/Likely pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency, Methylcrotonyl-CoA carboxylase deficiency
RS141030994 POLR3B Health Risk Conflicting classifications of pathogenicity See cases, POLR3B-related disorder
RS141031133 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
RS1410313655 AGRN Health Risk Pathogenic Congenital myasthenic syndrome 8, Congenital myasthenic syndrome 8
RS141032388 PLEKHG5 Health Risk Conflicting classifications of pathogenicity Neuronopathy, distal hereditary motor
RS141032667 TPP2 Health Risk Conflicting classifications of pathogenicity Evans syndrome, immunodeficiency
RS1410327797 PRDM12 Health Risk Pathogenic Congenital insensitivity to pain-hypohidrosis syndrome, Congenital insensitivity to pain-hypohidrosis syndrome
RS141033098 VCL Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiovascular phenotype
RS141035091 LRP2 Health Risk Conflicting classifications of pathogenicity Donnai-Barrow syndrome, Donnai-Barrow syndrome
RS1410351489 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
RS141035459 KCNJ2 Health Risk Conflicting classifications of pathogenicity Andersen Tawil syndrome, Short QT syndrome type 3
RS1410356625 FANCC Health Risk Pathogenic Fanconi anemia complementation group C, Fanconi anemia
RS141035971 EXT2 Health Risk Conflicting classifications of pathogenicity Exostoses, multiple
RS141036010 ACAD9 Health Risk Conflicting classifications of pathogenicity Acyl-CoA dehydrogenase 9 deficiency, See cases
RS141036911 COL11A1 Health Risk Conflicting classifications of pathogenicity —
RS141037133 IDS Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-II
RS1410381664 ANO5 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia
RS141038240 BMPR2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Primary pulmonary hypertension
RS141038315 LMBRD1 Health Risk Pathogenic Methylmalonic aciduria and homocystinuria type cblF, Methylmalonic aciduria and homocystinuria type cblF
RS1410388157 SURF1 Health Risk Pathogenic Leigh syndrome, Leigh syndrome
RS1410392419 CHEK2 Health Risk Likely pathogenic Gastric cancer, Familial cancer of breast
RS1410392732 G6PC1 Health Risk Pathogenic Glycogen storage disease due to glucose-6-phosphatase deficiency type IA, Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
RS141039714 GLRA1 Health Risk Conflicting classifications of pathogenicity Hyperekplexia 1, Hereditary hyperekplexia
RS141039852 WDR19 Health Risk Conflicting classifications of pathogenicity Asphyxiating thoracic dystrophy 5, Senior-Loken syndrome 8
RS141039922 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS1410405989 RD3 Health Risk Pathogenic Leber congenital amaurosis 12, Leber congenital amaurosis 12
RS141040660 ANO10 Health Risk Conflicting classifications of pathogenicity Autosomal recessive spinocerebellar ataxia 10, Autosomal recessive spinocerebellar ataxia 10
RS141040739 GGCX Health Risk Conflicting classifications of pathogenicity Vitamin K-dependent clotting factors, combined deficiency of
RS141040985 SCN9A Health Risk Conflicting classifications of pathogenicity Paroxysmal extreme pain disorder, Channelopathy-associated congenital insensitivity to pain
RS1410418105 SPAST Health Risk Pathogenic Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
RS1410428272 CDH23 Health Risk Likely pathogenic Pituitary adenoma 5, multiple types
RS1410431494 GDF2 Health Risk Conflicting classifications of pathogenicity Telangiectasia, hereditary hemorrhagic
RS1410436651 PDE6C Health Risk Pathogenic/Likely pathogenic Cone dystrophy 4, Cone dystrophy 4
RS141045127 PLA2G6 Health Risk Conflicting classifications of pathogenicity Infantile neuroaxonal dystrophy, PLA2G6-associated neurodegeneration
RS1410459904 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS141046144 BBS2 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Bardet-Biedl syndrome 2
RS141046612 ASL Health Risk Conflicting classifications of pathogenicity Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
RS141047712 PDGFRA Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Gastrointestinal stromal tumor
RS141047907 COL9A1 Health Risk Conflicting classifications of pathogenicity —
RS141049001 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS141049472 TRIM63 Health Risk Conflicting classifications of pathogenicity —
RS141050617 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, COL6A3-related disorder
RS141050743 GATA5 Health Risk Conflicting classifications of pathogenicity Congenital heart defects, multiple types
RS141050887 XDH Health Risk Conflicting classifications of pathogenicity Xanthinuria type II, Hereditary xanthinuria type 1
RS141051652 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS141051794 RHAG Health Risk Conflicting classifications of pathogenicity —
RS1410520713 BCKDHB Health Risk Pathogenic/Likely pathogenic Maple syrup urine disease, Maple syrup urine disease type 1A
RS141052770 KIF1A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 30, Neuropathy
RS1410550128 ABCA4 Health Risk Pathogenic —
RS1410559569 AHI1 Health Risk Pathogenic Joubert syndrome, Joubert syndrome
RS141055990 BRIP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group J
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