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
RS779470673 CHD8 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS779472379 TSC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS779472675 TTC21B Health Risk Likely pathogenic Asphyxiating thoracic dystrophy 4, Nephronophthisis 12
RS779473190 EIF2B1 Health Risk Pathogenic/Likely pathogenic Leukoencephalopathy with vanishing white matter 1, Leukoencephalopathy with vanishing white matter 1
RS7794745 CNTNAP2 Health Risk risk factor Autism, susceptibility to
RS779474710 PDE6B Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Congenital stationary night blindness autosomal dominant 2
RS779474781 GNPTAB Health Risk Pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS779475367 GBE1 Health Risk Pathogenic/Likely pathogenic Adult polyglucosan body disease, Glycogen storage disease
RS779475596 FGD1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS779476529 CACNA1H Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial
RS779477027 DVL1 Health Risk Pathogenic —
RS779479811 CREBBP Health Risk Conflicting classifications of pathogenicity Rubinstein-Taybi syndrome, Rubinstein-Taybi syndrome
RS779480129 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS779480428 FANCA Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS779480579 CACNA2D4 Health Risk Conflicting classifications of pathogenicity Retinal cone dystrophy 4, Retinal cone dystrophy 4
RS779481792 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS779482394 NPHP4 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Nephronophthisis
RS779483057 ELAC2 Health Risk Likely pathogenic Ovarian cancer, Ovarian cancer
RS779483120 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Congenital contractural arachnodactyly
RS779483367 STAC3 Health Risk Pathogenic Bailey-Bloch congenital myopathy, Bailey-Bloch congenital myopathy
RS779483775 CACNA1D Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS779483918 SETD2 Health Risk Conflicting classifications of pathogenicity Luscan-Lumish syndrome, Inborn genetic diseases
RS779483959 AMT Health Risk Pathogenic/Likely pathogenic Glycine encephalopathy, Glycine encephalopathy 1
RS779484675 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS779485098 SGPL1 Health Risk Likely pathogenic —
RS779485493 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS779485996 ACVRL1 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS779486374 PFKM Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type VII
RS779486497 ASL Health Risk Likely pathogenic Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
RS779488376 VCL Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1W, Primary dilated cardiomyopathy
RS779488471 PREPL Health Risk Pathogenic Myasthenic syndrome, congenital
RS779489401 COL4A3 Health Risk Conflicting classifications of pathogenicity Benign familial hematuria, Autosomal dominant Alport syndrome
RS779490460 ARID1B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS779490777 NF1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
RS779490893 DNAH1 Health Risk Pathogenic Spermatogenic failure 18, Ciliary dyskinesia
RS779490913 RAB33B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS779490973 FBN1 Health Risk Conflicting classifications of pathogenicity Progeroid and marfanoid aspect-lipodystrophy syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS779491624 MSH3 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 4
RS779492256 HOGA1 Health Risk Likely pathogenic Primary hyperoxaluria type 3, Primary hyperoxaluria type 3
RS779492794 VWF Health Risk Likely pathogenic —
RS779493327 NLRP2 Health Risk Pathogenic Oocyte/zygote/embryo maturation arrest 18, Oocyte/zygote/embryo maturation arrest 18
RS779493486 MYBPC3 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiovascular phenotype
RS779494572 ALDH7A1 Health Risk Pathogenic Pyridoxine-dependent epilepsy, See cases
RS779494716 SLC17A5 Health Risk Pathogenic/Likely pathogenic Salla disease, Salla disease
RS779494870 ATP7B Health Risk Pathogenic Wilson disease, Wilson disease
RS779495049 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS779498825 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Hypertrophic cardiomyopathy 9
RS779499353 OTUD6B Health Risk Pathogenic Intellectual developmental disorder with dysmorphic facies, seizures
RS779499831 CTC1 Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, Cerebroretinal microangiopathy with calcifications and cysts 1
RS779500741 SON Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, SON-related disorder
RS779501527 MPDZ Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS779501556 ABCA7 Health Risk Likely pathogenic —
RS779502039 TGFB3 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Rienhoff syndrome
RS779502629 SLC5A1 Health Risk Pathogenic Congenital glucose-galactose malabsorption, SLC5A1-related disorder
RS779504946 BCS1L Health Risk Conflicting classifications of pathogenicity —
RS779506307 RTEL1 Health Risk Conflicting classifications of pathogenicity Pulmonary fibrosis and/or bone marrow failure, Telomere-related
RS779506359 SIM1 Health Risk Conflicting classifications of pathogenicity Obesity due to SIM1 deficiency, SIM1-related disorder
RS779506379 BBS2 Health Risk Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome 2
RS779506456 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS779506886 KMT2D Health Risk Conflicting classifications of pathogenicity KMT2D-related disorder, Inborn genetic diseases
RS779507390 LOXHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 77, Autosomal recessive nonsyndromic hearing loss 77
RS779507601 RAD50 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS779508150 CACNA1G Health Risk Likely pathogenic Spinocerebellar ataxia 42, early-onset
RS779508996 CASK Health Risk Pathogenic/Likely pathogenic Syndromic X-linked intellectual disability Najm type, FG syndrome 4
RS779509116 PDGFB Health Risk Likely pathogenic —
RS779509262 AHI1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Inborn genetic diseases
RS779509486 FOXL2 Health Risk Conflicting classifications of pathogenicity Blepharophimosis, ptosis
RS779509518 MYLK3 Health Risk Conflicting classifications of pathogenicity —
RS779511911 AP3B1 Health Risk Conflicting classifications of pathogenicity Hermansky-Pudlak syndrome 2, Hermansky-Pudlak syndrome 2
RS779512296 LOX Health Risk Pathogenic Cardiovascular phenotype, LOX-related disorder
RS779512948 PMS2 Health Risk Pathogenic/Likely pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS779513054 SALL1 Health Risk Conflicting classifications of pathogenicity Townes syndrome, Townes syndrome
RS779513355 MEIOB Health Risk Likely pathogenic Spermatogenic failure 22, Premature ovarian failure 23
RS779514800 MAK Health Risk Pathogenic Retinitis pigmentosa 62, Retinitis pigmentosa 62
RS77951481 ZNF469 Health Risk Conflicting classifications of pathogenicity Brittle cornea syndrome 1, Ehlers-Danlos syndrome
RS779515404 POLG Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, Inborn genetic diseases
RS779515458 ACTL7A Health Risk Pathogenic Spermatogenic failure 86, Spermatogenic failure 86
RS779515761 MED12 Health Risk Conflicting classifications of pathogenicity FG syndrome, X-linked intellectual disability with marfanoid habitus
RS779516004 AGRN Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 8, Congenital myasthenic syndrome 8
RS779516086 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS779516131 RTTN Health Risk Pathogenic Microcephaly, Microcephaly
RS779516489 SGCB Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2E, Autosomal recessive limb-girdle muscular dystrophy type 2E
RS779517657 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS779518202 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Hypogonadotropic hypogonadism 5 with or without anosmia
RS779518431 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS779519224 LPIN2 Health Risk Conflicting classifications of pathogenicity Majeed syndrome, Majeed syndrome
RS779519495 PAFAH1B1 Health Risk Pathogenic —
RS779520176 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS779520200 ADGRV1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2C, Usher syndrome type 2C
RS779520270 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS779523169 INTU Health Risk Conflicting classifications of pathogenicity INTU-related disorder, INTU-related disorder
RS779526175 PEX6 Health Risk Pathogenic Peroxisome biogenesis disorder, Peroxisome biogenesis disorder
RS779526456 TMEM216 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 2, Joubert syndrome
RS779526640 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS779526669 PRKAG2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Lethal congenital glycogen storage disease of heart
RS779527817 BARD1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS779527848 ARSL Health Risk Conflicting classifications of pathogenicity Chondrodysplasia punctata, brachytelephalangic
RS779528546 SMPD1 Health Risk Likely pathogenic Niemann-Pick disease, type A
RS779530655 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS779530750 MYH3 Health Risk Conflicting classifications of pathogenicity MYH3-related disorder, MYH3-related disorder
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