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
RS143575822 CUX2 Health Risk Conflicting classifications of pathogenicity CUX2-related disorder, Developmental and epileptic encephalopathy
RS143575981 SLC7A7 Health Risk Conflicting classifications of pathogenicity Lysinuric protein intolerance, Autoinflammatory syndrome
RS1435760575 ABCD4 Health Risk Pathogenic Methylmalonic acidemia with homocystinuria, type cblJ
RS143576067 FREM2 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 2, Fraser syndrome 2
RS143576401 NDUFV2 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 1
RS1435774234 DPYD Health Risk Likely pathogenic Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency
RS143577626 PLOD3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1435779670 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 5
RS1435783250 RETREG1 Health Risk Pathogenic —
RS143578698 CLN6 Health Risk Conflicting classifications of pathogenicity Adult neuronal ceroid lipofuscinosis, Ceroid lipofuscinosis
RS143578863 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS1435792777 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS143579306 ELANE Health Risk Conflicting classifications of pathogenicity Cyclical neutropenia, Neutropenia
RS1435794183 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS143579801 TDRD7 Health Risk Conflicting classifications of pathogenicity Cataract 36, Cataract 36
RS143580028 ST18 Health Risk Conflicting classifications of pathogenicity —
RS143580145 ATP2A3 Health Risk Conflicting classifications of pathogenicity ATP2A3-related disorder, ATP2A3-related disorder
RS1435802052 PEX6 Health Risk Likely pathogenic Peroxisome biogenesis disorder 4A (Zellweger), Peroxisome biogenesis disorder 4A (Zellweger)
RS1435802242 HACD1 Health Risk Pathogenic —
RS1435803196 SYNE1 Health Risk Pathogenic SYNE1-related disorder, SYNE1-related disorder
RS1435811495 DNAH11 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1435820637 TRNT1 Health Risk Pathogenic Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome, Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
RS143582502 LCA5 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 5, Leber congenital amaurosis
RS143583433 COL6A2 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A
RS143583842 UMOD Health Risk Conflicting classifications of pathogenicity Familial juvenile hyperuricemic nephropathy type 1, UMOD-related disorder
RS1435849650 KMT2D Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Kabuki syndrome
RS143585080 ANK1 Health Risk Conflicting classifications of pathogenicity Hereditary spherocytosis type 1, Hereditary spherocytosis type 1
RS143585233 NSD1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Sotos syndrome
RS143585647 FANCB Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group B, Fanconi anemia
RS143587828 DHCR7;NADSYN1 Health Risk Conflicting classifications of pathogenicity Smith-Lemli-Opitz syndrome, Inborn genetic diseases
RS143588093 SAMHD1 Health Risk Conflicting classifications of pathogenicity Chilblain lupus 2, Aicardi-Goutieres syndrome 5
RS143588436 F11 Health Risk Conflicting classifications of pathogenicity Hereditary factor XI deficiency disease, Hereditary factor XI deficiency disease
RS1435884753 CHD4 Health Risk Likely pathogenic Moyamoya angiopathy with developmental delay, Moyamoya angiopathy with developmental delay
RS143588685 SLC2A1 Health Risk Conflicting classifications of pathogenicity GLUT1 deficiency syndrome 1, autosomal recessive
RS143588920 MYH11 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm
RS143589037 AP3B1 Health Risk Conflicting classifications of pathogenicity Hermansky-Pudlak syndrome 2, Hermansky-Pudlak syndrome 2
RS1435894101 WASHC5 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 8, Ritscher-Schinzel syndrome
RS1435894576 FAS Health Risk Likely pathogenic Autoimmune lymphoproliferative syndrome type 1, Autoimmune lymphoproliferative syndrome type 1
RS143589497 KANSL1 Health Risk Conflicting classifications of pathogenicity Koolen-de Vries syndrome, Koolen-de Vries syndrome
RS143590546 DSG4 Health Risk Conflicting classifications of pathogenicity Hypotrichosis 6, Hypotrichosis 6
RS143590752 LIG4 Health Risk Conflicting classifications of pathogenicity DNA ligase IV deficiency, Severe combined immunodeficiency due to DCLRE1C deficiency
RS143590990 GATA2 Health Risk Conflicting classifications of pathogenicity Monocytopenia with susceptibility to infections, Deafness-lymphedema-leukemia syndrome
RS143592479 BBS1 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Bardet-Biedl syndrome 1
RS143592561 MARVELD2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 49, Autosomal recessive nonsyndromic hearing loss 49
RS1435934984 COL7A1 Health Risk Pathogenic —
RS143594020 GRIN2A Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Inborn genetic diseases
RS1435943982 SYNGAP1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 5
RS143594544 TCF4 Health Risk Conflicting classifications of pathogenicity Pitt-Hopkins syndrome, Inborn genetic diseases
RS1435946172 SAMD9 Health Risk Pathogenic MIRAGE syndrome, SAMD9-related disorder
RS143594709 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS143595616 NUP214 Health Risk Pathogenic/Likely pathogenic Progressive microcephaly, Recurrent encephalopathy
RS143596606 IL7R Health Risk Conflicting classifications of pathogenicity Immunodeficiency 104, Immunodeficiency 104
RS143597419 PKD1L1 Health Risk Conflicting classifications of pathogenicity Heterotaxy, visceral
RS1435975707 TYRP1 Health Risk Pathogenic/Likely pathogenic Oculocutaneous albinism type 3, Oculocutaneous albinism type 3
RS1435980710 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Arthrogryposis multiplex congenita 6
RS143598088 DNMT1 Health Risk Conflicting classifications of pathogenicity Hereditary sensory neuropathy-deafness-dementia syndrome, Inborn genetic diseases
RS143598372 MICAL1 Health Risk Conflicting classifications of pathogenicity —
RS1435990592 KCNQ1 Health Risk Pathogenic/Likely pathogenic Long QT syndrome, Cardiovascular phenotype
RS143599540 KCNMA1 Health Risk Conflicting classifications of pathogenicity Generalized epilepsy-paroxysmal dyskinesia syndrome, Generalized epilepsy-paroxysmal dyskinesia syndrome
RS143599784 CFHR5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1435997919 MYH2 Health Risk Pathogenic Myopathy, proximal
RS1435998081 CHD8 Health Risk Conflicting classifications of pathogenicity Intellectual developmental disorder with autism and macrocephaly, Inborn genetic diseases
RS143600438 CARD14 Health Risk Conflicting classifications of pathogenicity Pityriasis rubra pilaris, Psoriasis 2
RS1436005137 LIFR Health Risk Pathogenic —
RS143600636 CYP27A1 Health Risk Conflicting classifications of pathogenicity Cholestanol storage disease, Cardiovascular phenotype
RS143600641 SMARCA4 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Rhabdoid tumor predisposition syndrome 2
RS1436008939 PSAP Health Risk Pathogenic Sphingolipid activator protein 1 deficiency, Sphingolipid activator protein 1 deficiency
RS143600903 IL17RC Health Risk Likely pathogenic Candidiasis, familial
RS143601538 SALL4 Health Risk Conflicting classifications of pathogenicity Duane-radial ray syndrome, Duane-radial ray syndrome
RS143602832 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS1436038663 BARD1 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS143604970 TSEN54 Health Risk Pathogenic/Likely pathogenic Pontocerebellar hypoplasia type 4, Pontocerebellar hypoplasia type 2A
RS1436064204 LZTR1 Health Risk Pathogenic/Likely pathogenic Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS143606483 SMOC1 Health Risk Conflicting classifications of pathogenicity SMOC1-related disorder, SMOC1-related disorder
RS1436069277 POT1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Tumor predisposition syndrome 3
RS143607153 KCNJ13 Health Risk Pathogenic Leber congenital amaurosis 16, Leber congenital amaurosis 16
RS1436074042 GALC Health Risk Pathogenic/Likely pathogenic Galactosylceramide beta-galactosidase deficiency, Spastic ataxia
RS1436085018 BRIP1 Health Risk Pathogenic Familial cancer of breast, Fanconi anemia complementation group J
RS143608852 BCKDHA Health Risk Conflicting classifications of pathogenicity Maple syrup urine disease, Inborn genetic diseases
RS1436089021 PROP1 Health Risk Likely pathogenic Pituitary hormone deficiency, combined
RS1436090495 PREPL Health Risk Pathogenic Myasthenic syndrome, congenital
RS1436103479 ERCC6 Health Risk Pathogenic —
RS1436106795 ALG1 Health Risk Conflicting classifications of pathogenicity ALG1-congenital disorder of glycosylation, ALG1-congenital disorder of glycosylation
RS143611747 CHEK2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS143612450 SMPD1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type A
RS143612590 EGF Health Risk Conflicting classifications of pathogenicity Renal hypomagnesemia 4, Renal hypomagnesemia 4
RS143612660 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS143612678 UNC80 Health Risk Conflicting classifications of pathogenicity Hypotonia, infantile
RS143612682 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS143613363 EYA4 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1J, Cardiovascular phenotype
RS143613534 APOB Health Risk Conflicting classifications of pathogenicity Familial hypobetalipoproteinemia 1, Hypercholesterolemia
RS143613619 DVL1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS143613855 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS1436141222 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia 3, Primary ciliary dyskinesia
RS143614333 CR2 Health Risk Conflicting classifications of pathogenicity Immunodeficiency, common variable
RS143615668 BRIP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS143616240 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS143616931 SUMF1 Health Risk Pathogenic Multiple sulfatase deficiency, Multiple sulfatase deficiency
RS1436170727 TCIRG1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1
RS143617205 KLHL3 Health Risk Conflicting classifications of pathogenicity Pseudohypoaldosteronism type 2D, Pseudohypoaldosteronism type 2D
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