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
RS772682471 ALPL Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Hypophosphatasia
RS772682942 ABCC8 Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young, Hyperinsulinemic hypoglycemia
RS772683218 MAST1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS772683219 CHEK2 Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS772683278 TP53 Health Risk Conflicting classifications of pathogenicity Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome
RS772683361 HADHA Health Risk Pathogenic Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Mitochondrial trifunctional protein deficiency
RS772683485 SYNGAP1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 5
RS772683764 MSH3 Health Risk Pathogenic Familial adenomatous polyposis 4, Hereditary cancer-predisposing syndrome
RS772684048 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS772684105 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS772684226 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Facial dysmorphism-immunodeficiency-livedo-short stature syndrome
RS772684721 CDKN1C Health Risk Conflicting classifications of pathogenicity Beckwith-Wiedemann syndrome, IMAGe syndrome
RS772684869 LIPA Health Risk Likely pathogenic Lysosomal acid lipase deficiency, Wolman disease
RS772686048 POLE Health Risk Conflicting classifications of pathogenicity Carcinoma of colon, Hereditary cancer-predisposing syndrome
RS772686090 TSC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS772686744 DNAI1 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Kartagener syndrome
RS772687631 TSC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS772689095 PRDM16 Health Risk Conflicting classifications of pathogenicity Left ventricular noncompaction 8, Left ventricular noncompaction 8
RS772689571 MYBPC3 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS772690187 TRPM4 Health Risk Conflicting classifications of pathogenicity Progressive familial heart block type IB, Cardiovascular phenotype
RS772690312 EXT2 Health Risk Conflicting classifications of pathogenicity Exostoses, multiple
RS772691866 GRIN2A Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS772694360 FAT2 Health Risk Conflicting classifications of pathogenicity —
RS772695216 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Becker muscular dystrophy
RS772695815 ROBO1 Health Risk Likely pathogenic ROBO1-related disorder, ROBO1-related disorder
RS772697259 CWF19L1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive spinocerebellar ataxia 17, Autosomal recessive spinocerebellar ataxia 17
RS772697482 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement
RS772699709 COL4A4 Health Risk Conflicting classifications of pathogenicity Autosomal recessive Alport syndrome, Hematuria
RS772700881 FAN1 Health Risk Conflicting classifications of pathogenicity Karyomegalic interstitial nephritis, Karyomegalic interstitial nephritis
RS772701127 MFN2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS772701630 PLK2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS772701925 GCM2 Health Risk Conflicting classifications of pathogenicity Familial hypoparathyroidism, Familial hypoparathyroidism
RS772703445 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS772703700 MED13L Health Risk Conflicting classifications of pathogenicity Dextro-looped transposition of the great arteries, MED13L-related disorder
RS772703740 DIAPH1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 1, Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
RS772704243 CDKN1C Health Risk Conflicting classifications of pathogenicity Beckwith-Wiedemann syndrome, CDKN1C-related disorder
RS772704931 SACS Health Risk Pathogenic Spastic paraplegia, Charlevoix-Saguenay spastic ataxia
RS772705833 KCNJ1 Health Risk Pathogenic —
RS772707303 EYS Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 25, Retinal dystrophy
RS772708260 POLR3A Health Risk Pathogenic/Likely pathogenic Leukodystrophy, Leukodystrophy
RS772708424 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiovascular phenotype
RS772708743 COL4A3 Health Risk Pathogenic Autosomal dominant Alport syndrome, Alport syndrome
RS772709798 CD36 Health Risk Pathogenic CD36-related disorder, CD36-related disorder
RS772711848 SUMF1 Health Risk Pathogenic/Likely pathogenic Multiple sulfatase deficiency, Multiple sulfatase deficiency
RS772713612 SOX9 Health Risk Conflicting classifications of pathogenicity Camptomelic dysplasia, Inborn genetic diseases
RS772714594 LZTR1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS772714766 ABCB11 Health Risk Conflicting classifications of pathogenicity Progressive familial intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2
RS772715426 ARHGAP31 Health Risk Conflicting classifications of pathogenicity —
RS772716663 KIF7 Health Risk Pathogenic Acrocallosal syndrome, Acrocallosal syndrome
RS772716852 SLC5A5 Health Risk Conflicting classifications of pathogenicity Thyroid dyshormonogenesis 1, Thyroid dyshormonogenesis 1
RS772718098 ROBO3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Tuberous sclerosis syndrome
RS772718353 SMCHD1 Health Risk Conflicting classifications of pathogenicity Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2
RS772718469 CACNA1H Health Risk Conflicting classifications of pathogenicity Arteriovenous malformation, Tremor
RS772718755 VARS2 Health Risk Pathogenic Combined oxidative phosphorylation defect type 20, Combined oxidative phosphorylation defect type 20
RS772719023 PLK4 Health Risk Pathogenic —
RS772719574 MKS1 Health Risk Conflicting classifications of pathogenicity Meckel syndrome, type 1
RS772720024 NPHP1 Health Risk Pathogenic Nephronophthisis, Joubert syndrome with renal defect
RS772721937 MRPS23 Health Risk Conflicting classifications of pathogenicity Combined oxidative phosphorylation deficiency 46, Inborn genetic diseases
RS772722561 TRNT1 Health Risk Pathogenic Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome, Retinal dystrophy
RS772722925 HOGA1 Health Risk Pathogenic Primary hyperoxaluria type 3, Primary hyperoxaluria type 3
RS772723003 TTLL5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS772723050 ABCC8 Health Risk Pathogenic/Likely pathogenic Hyperinsulinemic hypoglycemia, familial
RS772723774 OTOGL Health Risk Pathogenic Rare genetic deafness, Rare genetic deafness
RS772724024 ATM Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS772725807 CNGB3 Health Risk Pathogenic Achromatopsia 3, Retinal dystrophy
RS772727116 PNKP Health Risk Pathogenic Developmental and epileptic encephalopathy, 12
RS772727378 PLG Health Risk Likely pathogenic —
RS772728968 SERPINF1 Health Risk Likely pathogenic Osteogenesis imperfecta, Osteogenesis imperfecta
RS772729103 AHCY Health Risk Pathogenic Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
RS772729384 TTN Health Risk Conflicting classifications of pathogenicity —
RS772729658 OTOF Health Risk Pathogenic —
RS772730170 NUDT2 Health Risk Likely pathogenic Intellectual developmental disorder with or without peripheral neuropathy, Intellectual developmental disorder with or without peripheral neuropathy
RS772730239 TUBB Health Risk Conflicting classifications of pathogenicity Multiple benign circumferential skin creases on limbs 1, Multiple benign circumferential skin creases on limbs 1
RS772731615 VRK1 Health Risk Pathogenic/Likely pathogenic Pontocerebellar hypoplasia type 1A, Juvenile amyotrophic lateral sclerosis
RS772731855 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Dilated cardiomyopathy 1G
RS772732061 ACAD9 Health Risk Conflicting classifications of pathogenicity Acyl-CoA dehydrogenase 9 deficiency, ACAD9-related disorder
RS772732188 HNRNPU Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 54
RS772732232 MFN2 Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS772732648 DYNC2H1 Health Risk Likely pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS772732788 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Dilated cardiomyopathy 3B
RS772733691 CYP11B1 Health Risk Conflicting classifications of pathogenicity Deficiency of steroid 11-beta-monooxygenase, Glucocorticoid-remediable aldosteronism
RS772733800 FANCI Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group I, Fanconi anemia
RS772734060 PRKDC Health Risk Conflicting classifications of pathogenicity Severe combined immunodeficiency due to DNA-PKcs deficiency, Severe combined immunodeficiency due to DNA-PKcs deficiency
RS772734108 ITGB4 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa, junctional 5A
RS772734618 POLE Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS772735093 ABCA4 Health Risk Likely pathogenic Cone-rod dystrophy 3, Severe early-childhood-onset retinal dystrophy
RS772737144 WDR73 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Galloway-Mowat syndrome 1
RS772737979 POLG Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, POLG-related disorder
RS772738883 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS772739034 FANCI Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Inborn genetic diseases
RS772739103 KIAA0586 Health Risk Likely pathogenic Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly
RS772739433 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS772740368 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 7
RS772742256 FREM2 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 2, Fraser syndrome 2
RS772742353 SACS Health Risk Conflicting classifications of pathogenicity Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS772744105 MBD4 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS772744115 DSG2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 10, Cardiomyopathy
RS772745309 APC Health Risk Pathogenic Carcinoma of colon, Hereditary cancer-predisposing syndrome
RS772745844 RELN Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Familial temporal lobe epilepsy 7
RS772747361 NEK1 Health Risk Conflicting classifications of pathogenicity Motor neuron disease, Short-rib thoracic dysplasia 6 with or without polydactyly
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