SNP Directory

400,964 genetic variants in our database.

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All (400,964) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS954203955 KIF5C Health Risk Conflicting classifications of pathogenicity Complex cortical dysplasia with other brain malformations 2, Complex cortical dysplasia with other brain malformations 2
RS9542305 B3GLCT Health Risk Conflicting classifications of pathogenicity Peters plus syndrome, Peters plus syndrome
RS954238515 HGSNAT Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-III-C
RS954286214 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS954286843 BAP1 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS954347047 CIITA Health Risk Conflicting classifications of pathogenicity MHC class II deficiency, Inborn genetic diseases
RS954390684 PALB2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS954487188 MSH3 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS954495672 NR2F1 Health Risk Conflicting classifications of pathogenicity —
RS954507677 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Aortic valve disorder
RS954515859 MED17 Health Risk Pathogenic —
RS954539468 CCNF Health Risk Pathogenic Frontotemporal dementia and/or amyotrophic lateral sclerosis 5, Frontotemporal dementia and/or amyotrophic lateral sclerosis 5
RS954555240 FANCD2 Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS954564659 COL1A1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type I, Cardiovascular phenotype
RS954564790 TMC6 Health Risk Conflicting classifications of pathogenicity Epidermodysplasia verruciformis, Inborn genetic diseases
RS954595597 CRB1 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 8, Retinitis pigmentosa 12
RS954634089 MLH3 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis
RS954701825 COL4A4 Health Risk Likely pathogenic Autosomal recessive Alport syndrome, Benign familial hematuria
RS954702094 FBXO43 Health Risk Pathogenic Spermatogenic failure 64, Spermatogenic failure 64
RS954727530 KCNJ11 Health Risk Pathogenic/Likely pathogenic Monogenic diabetes, Type 2 diabetes mellitus
RS954742285 NEU1 Health Risk Conflicting classifications of pathogenicity Sialidosis type 2, Sialidosis type 2
RS954814470 PEX1 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 1A (Zellweger), Peroxisome biogenesis disorder 1B
RS954823206 EDARADD Health Risk Pathogenic Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type
RS954824608 SH2D1A Health Risk Conflicting classifications of pathogenicity X-linked lymphoproliferative disease due to SH2D1A deficiency, X-linked lymphoproliferative disease due to SH2D1A deficiency
RS954846035 ASXL2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS9548505 FREM2 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 2, Isolated cryptophthalmia
RS954890424 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement
RS954971844 WFS1 Health Risk Conflicting classifications of pathogenicity Wolfram syndrome 1, Wolfram syndrome 1
RS954994232 FN1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Spondylometaphyseal dysplasia - Sutcliffe type
RS955032293 ANKRD26 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS955056927 THAP11 Health Risk Conflicting classifications of pathogenicity —
RS955074155 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS955076032 TERF2IP Health Risk Conflicting classifications of pathogenicity —
RS955092262 COLGALT1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS955095527 WNK1 Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory and autonomic
RS955112491 WRAP53 Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, autosomal recessive 3
RS955142329 CAPN1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive spastic paraplegia type 76, Autosomal recessive spastic paraplegia type 76
RS955171017 ACTL6B Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 76
RS955263930 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS955268781 FOXI3 Health Risk Pathogenic/Likely pathogenic Craniofacial microsomia, Craniofacial microsomia 2
RS955287913 GALC Health Risk Likely pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS9552929 SACS Health Risk Conflicting classifications of pathogenicity Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS955351335 TCN2 Health Risk Pathogenic/Likely pathogenic Transcobalamin II deficiency, Transcobalamin II deficiency
RS955385021 FSHR Health Risk Pathogenic Amenorrhea, Amenorrhea
RS955385869 BTD Health Risk Likely pathogenic Biotinidase deficiency, Biotinidase deficiency
RS955397173 FRRS1L Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 37
RS955399709 MSTO1 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS955421639 INVS Health Risk Likely pathogenic Nephronophthisis, Nephronophthisis
RS955424750 ALMS1 Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS955430620 SOS2 Health Risk Conflicting classifications of pathogenicity Noonan syndrome 9, Cardiovascular phenotype
RS955468054 TECTA Health Risk Pathogenic/Likely pathogenic —
RS955468279 MMACHC Health Risk Conflicting classifications of pathogenicity Cobalamin C disease, Cobalamin C disease
RS955495354 FANCC Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group C
RS955528859 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary diffuse gastric adenocarcinoma, Hereditary cancer-predisposing syndrome
RS955533308 BPTF Health Risk Conflicting classifications of pathogenicity —
RS955606062 SLC35C1 Health Risk Conflicting classifications of pathogenicity Leukocyte adhesion deficiency type II, Leukocyte adhesion deficiency type II
RS955612922 PRKCG Health Risk Pathogenic Spinocerebellar ataxia type 14, Spinocerebellar ataxia type 14
RS955636757 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Isolated focal cortical dysplasia type II
RS955639059 FBN1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS955717531 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS955729561 GFM1 Health Risk Likely pathogenic Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1, Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
RS955750160 ZSWIM6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS955758766 CARD14 Health Risk Conflicting classifications of pathogenicity Psoriasis 2, Pityriasis rubra pilaris
RS955762079 EYS Health Risk Likely pathogenic —
RS955766374 NR2E3 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Enhanced S-cone syndrome
RS955767732 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS955776981 ARHGEF18 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 78, Retinitis pigmentosa 78
RS955802904 PAX1 Health Risk Pathogenic —
RS955829877 COL2A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS955833453 CTNS Health Risk Pathogenic Nephropathic cystinosis, Nephropathic cystinosis
RS955851548 ITGA2B Health Risk Conflicting classifications of pathogenicity Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS955869211 CACNA1A Health Risk Conflicting classifications of pathogenicity Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS955955089 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS955961811 FANCC Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Hereditary cancer-predisposing syndrome
RS955974361 VLDLR Health Risk Pathogenic VLDLR-related disorder, VLDLR-related disorder
RS955981915 SFTPB Health Risk Conflicting classifications of pathogenicity Hereditary pulmonary alveolar proteinosis, Hereditary pulmonary alveolar proteinosis
RS956005905 PMS2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS956016804 KMT2B Health Risk Conflicting classifications of pathogenicity Intellectual developmental disorder, autosomal dominant 68
RS956040185 USB1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS956041710 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS956104232 CCDC88C Health Risk Likely pathogenic Spinocerebellar ataxia type 40, Spinocerebellar ataxia type 40
RS956143558 BRAF Health Risk Conflicting classifications of pathogenicity RASopathy, Noonan syndrome and Noonan-related syndrome
RS956172059 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS956212866 SMAD4 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Juvenile polyposis syndrome
RS956223874 SMARCAL1 Health Risk Pathogenic/Likely pathogenic Schimke immuno-osseous dysplasia, See cases
RS956227338 MTTP Health Risk Likely pathogenic Abetalipoproteinaemia, Abetalipoproteinaemia
RS956233074 COL11A1 Health Risk Pathogenic —
RS956247442 ALMS1 Health Risk Pathogenic/Likely pathogenic Alstrom syndrome, Alstrom syndrome
RS956279295 NEB Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Nemaline myopathy 2
RS956279629 ACADVL Health Risk Conflicting classifications of pathogenicity Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS956302502 LRP5 Health Risk Conflicting classifications of pathogenicity —
RS956307189 ADGRV1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2C, Inborn genetic diseases
RS956309067 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS956313303 KMT2A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS956315398 APOB Health Risk Conflicting classifications of pathogenicity Familial hypobetalipoproteinemia 1, Hypercholesterolemia
RS956362869 GRIN2B Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 6
RS956390201 SERPING1 Health Risk Pathogenic Hereditary angioedema type 1, Hereditary angioedema type 1
RS956411998 AAAS Health Risk Likely pathogenic —
RS956448140 SLC26A5 Health Risk Pathogenic —
RS956546711 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
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