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
RS1584322737 COL1A2 Health Risk Likely pathogenic Osteogenesis imperfecta, Osteogenesis imperfecta
RS1584324507 COL1A2 Health Risk Pathogenic Osteogenesis imperfecta with normal sclerae, dominant form
RS1584324956 TRRAP Health Risk Likely pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS1584325529 COL1A2 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type III, Osteogenesis imperfecta type I
RS1584325552 COL1A2 Health Risk Likely pathogenic Ehlers-Danlos syndrome, classic type
RS1584326318 RELN Health Risk Pathogenic Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS1584326393 COL1A2 Health Risk Pathogenic Osteogenesis imperfecta type I, Ehlers-Danlos syndrome
RS1584328014 COL1A2 Health Risk Likely pathogenic —
RS1584328061 COL1A2 Health Risk Pathogenic Osteogenesis imperfecta type I, Ehlers-Danlos syndrome
RS1584328172 DST Health Risk Pathogenic Hereditary sensory and autonomic neuropathy type 6, Epidermolysis bullosa simplex 3
RS1584329740 COL1A2 Health Risk Likely pathogenic Ehlers-Danlos syndrome, classic type
RS1584330396 COL1A2 Health Risk Pathogenic Osteogenesis imperfecta with normal sclerae, dominant form
RS1584330959 COL1A2 Health Risk Likely pathogenic Osteogenesis imperfecta, Osteogenesis imperfecta
RS1584331188 SLC26A4 Health Risk Pathogenic Pendred syndrome, Autosomal recessive nonsyndromic hearing loss 4
RS1584332692 COL1A2 Health Risk Likely pathogenic —
RS1584337134 SLC26A4 Health Risk Likely pathogenic Pendred syndrome, Pendred syndrome
RS1584344549 SLC26A4 Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 4, Pendred syndrome
RS1584344687 SLC26A4 Health Risk Pathogenic Pendred syndrome, Pendred syndrome
RS1584370623 NCF1 Health Risk Likely pathogenic Granulomatous disease, chronic
RS1584399108 KCTD7 Health Risk Likely pathogenic Epileptic encephalopathy, Epileptic encephalopathy
RS1584403556 SLC26A3 Health Risk Likely pathogenic Congenital secretory diarrhea, chloride type
RS1584409386 ARPC1B Health Risk Pathogenic Inherited Immunodeficiency Diseases, Inherited Immunodeficiency Diseases
RS1584410808 ARPC1B Health Risk Pathogenic Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease, Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease
RS1584422832 SLC25A13 Health Risk Likely pathogenic Neonatal intrahepatic cholestasis due to citrin deficiency, Neonatal intrahepatic cholestasis due to citrin deficiency
RS1584433525 SLC25A13 Health Risk Likely pathogenic Neonatal intrahepatic cholestasis due to citrin deficiency, Neonatal intrahepatic cholestasis due to citrin deficiency
RS1584437592 SBDS Health Risk Likely pathogenic Shwachman-Diamond syndrome 1, Shwachman-Diamond syndrome 1
RS1584438908 SBDS Health Risk Likely pathogenic —
RS1584439050 SBDS Health Risk Pathogenic Shwachman-Diamond syndrome 1, Aplastic anemia
RS1584452484 AKAP9 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS1584458744 ASNS Health Risk Likely pathogenic Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome, Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
RS1584459683 TFR2 Health Risk Pathogenic Hereditary hemochromatosis, Hereditary hemochromatosis
RS1584460907 TFR2 Health Risk Likely pathogenic Hereditary hemochromatosis, Hereditary hemochromatosis
RS1584462024 DLD Health Risk Pathogenic Pyruvate dehydrogenase E3 deficiency, Pyruvate dehydrogenase E3 deficiency
RS1584463259 ASNS Health Risk Likely pathogenic —
RS1584466132 ACTL6B Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 76
RS1584466163 ACTL6B Health Risk Likely pathogenic ACTL6B-related recessive epilepsy, ACTL6B-related recessive epilepsy
RS1584468817 ACTL6B Health Risk Likely pathogenic ACTL6B-related recessive epilepsy, ACTL6B-related recessive epilepsy
RS1584468891 ACTL6B Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 76
RS1584494326 ELN Health Risk Pathogenic Supravalvar aortic stenosis, Supravalvar aortic stenosis
RS1584507780 AP4M1 Health Risk Likely pathogenic Hereditary spastic paraplegia 50, Hereditary spastic paraplegia 50
RS1584508277 AP4M1 Health Risk Likely pathogenic —
RS1584510207 POT1 Health Risk Pathogenic/Likely pathogenic Tumor predisposition syndrome 3, Hereditary cancer-predisposing syndrome
RS1584514057 AP4M1 Health Risk Likely pathogenic Spastic paraplegia, Spastic paraplegia
RS1584522453 TBC1D7 Health Risk Likely pathogenic —
RS1584531843 SGCE Health Risk Pathogenic Myoclonic dystonia 11, Myoclonic dystonia 11
RS1584546056 CASD1;SGCE Health Risk Likely pathogenic —
RS1584546131 SGCE Health Risk Pathogenic Myoclonic dystonia 11, Myoclonic dystonia 11
RS1584546238 SGCE Health Risk Pathogenic Myoclonic dystonia 11, Myoclonic dystonia 11
RS1584546494 SGCE Health Risk Likely pathogenic Myoclonic dystonia 11, Myoclonic dystonia 11
RS1584547374 COG5 Health Risk Likely pathogenic COG5-congenital disorder of glycosylation, COG5-congenital disorder of glycosylation
RS1584549575 RNF216 Health Risk Pathogenic —
RS1584599101 SUMF2 Health Risk Pathogenic Multiple sulfatase deficiency, Multiple sulfatase deficiency
RS1584622847 MRM2 Health Risk Pathogenic Mitochondrial DNA depletion syndrome 17, Mitochondrial DNA depletion syndrome 17
RS1584637958 SGCE Health Risk Pathogenic Myoclonic dystonia 11, Myoclonic dystonia 11
RS1584638555 SGCE Health Risk Pathogenic —
RS1584651110 EPHB4 Health Risk Likely pathogenic Lymphatic malformation 7, Lymphatic malformation 7
RS1584652949 EPHB4 Health Risk Conflicting classifications of pathogenicity Capillary malformation-arteriovenous malformation 2, Capillary malformation-arteriovenous malformation 2
RS1584653005 EPHB4 Health Risk Conflicting classifications of pathogenicity Capillary malformation-arteriovenous malformation 2, Lymphatic malformation 7
RS1584653054 EPHB4 Health Risk Likely pathogenic Capillary malformation-arteriovenous malformation 2, Capillary malformation-arteriovenous malformation 2
RS1584653620 EPHB4 Health Risk Likely pathogenic Capillary malformation-arteriovenous malformation 2, Capillary malformation-arteriovenous malformation 2
RS1584653650 EPHB4 Health Risk Conflicting classifications of pathogenicity Capillary malformation-arteriovenous malformation 2, EPHB4-related disorder
RS1584653660 EPHB4;LOC126860124 Health Risk Likely pathogenic —
RS1584654433 EPHB4 Health Risk Conflicting classifications of pathogenicity Capillary malformation-arteriovenous malformation 2, Capillary malformation-arteriovenous malformation 2
RS1584658113 EPHB4 Health Risk Likely pathogenic Capillary malformation-arteriovenous malformation 2, Capillary malformation-arteriovenous malformation 2
RS1584663290 SGCE Health Risk Pathogenic Myoclonic dystonia 11, Myoclonic dystonia 11
RS1584663340 RBM28 Health Risk Pathogenic ANE syndrome, ANE syndrome
RS1584663425 SGCE Health Risk Pathogenic Myoclonic dystonia 11, Myoclonic dystonia 11
RS1584663596 SGCE Health Risk Pathogenic —
RS1584665400 ABCB4 Health Risk Likely pathogenic Cholestasis, intrahepatic
RS1584666961 EPHB4 Health Risk Pathogenic Capillary malformation-arteriovenous malformation 2, Capillary malformation-arteriovenous malformation 2
RS1584667224 EPHB4 Health Risk Conflicting classifications of pathogenicity Capillary malformation-arteriovenous malformation 2, Capillary malformation-arteriovenous malformation 2
RS1584671714 ABCB4 Health Risk Likely pathogenic Cholestasis, intrahepatic
RS1584675898 NUP205 Health Risk Likely pathogenic Nephrotic syndrome, type 13
RS1584678508 ABCB4 Health Risk Pathogenic Progressive familial intrahepatic cholestasis type 3, Progressive familial intrahepatic cholestasis type 3
RS1584684209 ABCB4 Health Risk Likely pathogenic Cholestasis, intrahepatic
RS1584692239 SGCE Health Risk Pathogenic Myoclonic dystonia 11, Myoclonic dystonia 11
RS1584700882 SGCE Health Risk Likely pathogenic Myoclonic dystonia 11, Myoclonic dystonia 11
RS1584728088 IMPDH1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinal dystrophy
RS1584728115 IMPDH1 Health Risk Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1584742063 ABCB4 Health Risk Likely pathogenic Cholestasis, intrahepatic
RS1584746915 KMT2E Health Risk Conflicting classifications of pathogenicity See cases, See cases
RS1584747270 ABCB4 Health Risk Likely pathogenic Progressive familial intrahepatic cholestasis type 1, Progressive familial intrahepatic cholestasis type 1
RS1584749215 POT1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tumor predisposition syndrome 3
RS1584749232 POT1 Health Risk Pathogenic Tumor predisposition syndrome 3, Hereditary cancer-predisposing syndrome
RS1584750653 ABCB4 Health Risk Likely pathogenic Progressive familial intrahepatic cholestasis type 1, Progressive familial intrahepatic cholestasis type 1
RS1584750660 ABCB4 Health Risk Likely pathogenic Cholestasis, intrahepatic
RS1584751177 KMT2E Health Risk Pathogenic O'Donnell-Luria-Rodan syndrome, O'Donnell-Luria-Rodan syndrome
RS1584754706 ABCB4 Health Risk Likely pathogenic Cholestasis, intrahepatic
RS1584754766 ABCB4 Health Risk Likely pathogenic Cholestasis, intrahepatic
RS1584757170 CNTNAP2 Health Risk Likely pathogenic Intellectual disability, Intellectual disability
RS1584757180 POT1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1584757207 POT1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1584757255 POT1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tumor predisposition syndrome 3
RS1584757355 POT1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tumor predisposition syndrome 3
RS1584758342 POT1 Health Risk Conflicting classifications of pathogenicity Tumor predisposition syndrome 3, Hereditary cancer-predisposing syndrome
RS1584761229 KMT2E Health Risk Conflicting classifications of pathogenicity See cases, Ovarian serous cystadenocarcinoma
RS1584763429 ABCB4 Health Risk Likely pathogenic Cholestasis, intrahepatic
RS1584764596 CFTR Health Risk Pathogenic/Likely pathogenic Cystic fibrosis, Bronchiectasis with or without elevated sweat chloride 1
RS1584765789 POT1 Health Risk Conflicting classifications of pathogenicity Tumor predisposition syndrome 3, Hereditary cancer-predisposing syndrome
RS1584773024 POT1 Health Risk Pathogenic Tumor predisposition syndrome 3, Tumor predisposition syndrome 3
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