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
RS142265031 GYS1 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease due to muscle and heart glycogen synthase deficiency, GYS1-related disorder
RS142265349 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS142265627 SLC52A3 Health Risk Conflicting classifications of pathogenicity Brown-Vialetto-van Laere syndrome 1, Inborn genetic diseases
RS1422656895 NFIA Health Risk Pathogenic/Likely pathogenic Brain malformations with or without urinary tract defects, NFIA-related disorder
RS142266106 LRP2 Health Risk Conflicting classifications of pathogenicity Donnai-Barrow syndrome, Inborn genetic diseases
RS142266408 POLR1A Health Risk Conflicting classifications of pathogenicity Acrofacial dysostosis Cincinnati type, Inborn genetic diseases
RS142266428 KLF11 Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young type 7, Maturity-onset diabetes of the young type 7
RS142268279 TNPO3 Health Risk Conflicting classifications of pathogenicity Autosomal dominant limb-girdle muscular dystrophy type 1F, Autosomal dominant limb-girdle muscular dystrophy type 1F
RS142269166 JAK2 Health Risk Conflicting classifications of pathogenicity Thrombocythemia 3, Thrombocythemia 3
RS142269451 SLC6A19 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1422698524 PKD1 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease, adult type
RS142269885 CLN8 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis 8, Neuronal ceroid lipofuscinosis
RS1422698928 RPIA Health Risk Pathogenic Deficiency of ribose-5-phosphate isomerase, Deficiency of ribose-5-phosphate isomerase
RS142270619 SLC7A9 Health Risk Likely pathogenic —
RS1422720020 SMPD1 Health Risk Pathogenic Niemann-Pick disease, type A
RS142272329 SLC1A1 Health Risk Conflicting classifications of pathogenicity Dicarboxylic aminoaciduria, Dicarboxylic aminoaciduria
RS1422723344 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia
RS1422724926 SYNE1 Health Risk Likely pathogenic Autosomal recessive ataxia, Beauce type
RS142272833 ABCC8 Health Risk Conflicting classifications of pathogenicity Monogenic diabetes, Maturity-onset diabetes of the young
RS142272846 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS1422731756 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS1422732315 ADAM9 Health Risk Pathogenic —
RS1422733588 TFR2 Health Risk Pathogenic/Likely pathogenic Hereditary hemochromatosis, Hemochromatosis type 3
RS142274277 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS142274716 F13A1 Health Risk Conflicting classifications of pathogenicity Factor XIII, A subunit
RS1422752351 KMT2D Health Risk Pathogenic/Likely pathogenic Kabuki syndrome, Kabuki syndrome 1
RS1422757569 COL7A1 Health Risk Pathogenic —
RS142276415 FAT2 Health Risk Conflicting classifications of pathogenicity —
RS142276590 PIGO Health Risk Conflicting classifications of pathogenicity Hyperphosphatasia with intellectual disability syndrome 2, Hyperphosphatasia with intellectual disability syndrome 2
RS142276689 SCN10A Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Cardiovascular phenotype
RS1422767764 GJB2 Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 1A, Nonsyndromic genetic hearing loss
RS142276972 COG5 Health Risk Conflicting classifications of pathogenicity COG5-congenital disorder of glycosylation, Inborn genetic diseases
RS142277402 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS1422776122 AP5Z1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 48, Hereditary spastic paraplegia 48
RS142277857 C2CD3 Health Risk Conflicting classifications of pathogenicity C2CD3-related disorder, C2CD3-related disorder
RS1422779785 MED12 Health Risk Conflicting classifications of pathogenicity FG syndrome, FG syndrome
RS142278066 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Monogenic diabetes
RS142278631 NSD2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1422791271 MFSD8 Health Risk Likely pathogenic —
RS1422797135 ITGB4 Health Risk Pathogenic Junctional epidermolysis bullosa with pyloric atresia, Junctional epidermolysis bullosa with pyloric atresia
RS142279745 HDAC4 Health Risk Conflicting classifications of pathogenicity HDAC4-related disorder, HDAC4-related disorder
RS142279746 SMARCE1 Health Risk Conflicting classifications of pathogenicity Familial meningioma, Hereditary cancer-predisposing syndrome
RS142280455 AR Health Risk Conflicting classifications of pathogenicity Non-obstructive azoospermia, Prostate cancer
RS1422809057 GDF6 Health Risk Conflicting classifications of pathogenicity Isolated microphthalmia 4, Microphthalmia
RS1422814635 TERT Health Risk Pathogenic/Likely pathogenic Abnormal pulmonary interstitial morphology, Short telomere length
RS1422817588 BMP1 Health Risk Pathogenic/Likely pathogenic —
RS142282413 USH2A Health Risk Pathogenic Usher syndrome, Usher syndrome
RS142282494 CYP24A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1422829075 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS142283122 TMEM67 Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Meckel-Gruber syndrome
RS142283145 GNPAT Health Risk Conflicting classifications of pathogenicity Rhizomelic chondrodysplasia punctata type 2, Inborn genetic diseases
RS1422834817 EMD Health Risk Pathogenic X-linked Emery-Dreifuss muscular dystrophy, X-linked Emery-Dreifuss muscular dystrophy
RS142284018 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Charlevoix-Saguenay spastic ataxia
RS1422851315 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Familial thoracic aortic aneurysm and aortic dissection
RS142285373 CHAT Health Risk Conflicting classifications of pathogenicity Familial infantile myasthenia, Inborn genetic diseases
RS142285781 UBR1 Health Risk Conflicting classifications of pathogenicity Johanson-Blizzard syndrome, UBR1-related disorder
RS142285791 PEX14 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder, complementation group K
RS142285818 RHO Health Risk Pathogenic 11 conditions, Pigmentary retinal dystrophy
RS142286187 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
RS142286229 LAMA1 Health Risk Conflicting classifications of pathogenicity LAMA1-related disorder, Optic atrophy
RS1422867920 ASS1 Health Risk Likely pathogenic Citrullinemia type I, Citrullinemia type I
RS142287264 SRCAP Health Risk Conflicting classifications of pathogenicity Developmental delay, hypotonia
RS142287570 GCM2 Health Risk Conflicting classifications of pathogenicity Familial hypoparathyroidism, Hyperparathyroidism 4
RS1422876107 DICER1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, DICER1-related tumor predisposition
RS142287778 KMT2C Health Risk Conflicting classifications of pathogenicity —
RS1422879641 HAMP Health Risk Pathogenic Hemochromatosis, juvenile
RS142288050 TIMP3 Health Risk Conflicting classifications of pathogenicity Sorsby fundus dystrophy, Sorsby fundus dystrophy
RS142288285 FLCN Health Risk Conflicting classifications of pathogenicity Birt-Hogg-Dube syndrome, Familial spontaneous pneumothorax
RS142288625 HSPG2 Health Risk Conflicting classifications of pathogenicity Schwartz-Jampel syndrome, Lethal Kniest-like syndrome
RS1422886839 FLT4 Health Risk Pathogenic Congenital heart defects, multiple types
RS1422887607 MBD5 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 1
RS142289138 SUCLA2 Health Risk Conflicting classifications of pathogenicity Global developmental delay, Mitochondrial DNA depletion syndrome
RS1422891600 EYS Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS142289638 DYSF Health Risk Pathogenic —
RS1422897832 UNC13D Health Risk Pathogenic Familial hemophagocytic lymphohistiocytosis 3, Familial hemophagocytic lymphohistiocytosis 3
RS142289802 FANCB Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group B, VACTERL association
RS1422900655 RB1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Retinoblastoma
RS1422902558 PIEZO1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS142290596 RAB23 Health Risk Conflicting classifications of pathogenicity RAB23-related Carpenter syndrome, Carpenter syndrome
RS1422910994 LRRK2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant Parkinson disease 8, Autosomal dominant Parkinson disease 8
RS142291440 TK2 Health Risk Conflicting classifications of pathogenicity Mitochondrial disease, Mitochondrial disease
RS1422917398 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Aortic valve disease 1
RS142292210 CUBN Health Risk Conflicting classifications of pathogenicity Imerslund-Grasbeck syndrome, Inborn genetic diseases
RS142292491 SMAD4 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Generalized juvenile polyposis/juvenile polyposis coli
RS142292859 SLC39A14 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Congenital heart disease
RS142293185 MYO7A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1, Autosomal recessive nonsyndromic hearing loss 2
RS1422935645 ABCC9 Health Risk Pathogenic Dilated cardiomyopathy 1O, Dilated cardiomyopathy 1O
RS142293594 SRA1 Health Risk Conflicting classifications of pathogenicity —
RS142293829 MBD5 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 1
RS142293909 ADAMTS13 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Upshaw-Schulman syndrome
RS142294586 GNAI3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1422949741 HCFC1 Health Risk Conflicting classifications of pathogenicity Methylmalonic acidemia with homocystinuria, type cblX
RS142295786 CCDC88C Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia type 40, Hydrocephalus
RS142296092 COL6A2 Health Risk Pathogenic Bethlem myopathy 1A, Inborn genetic diseases
RS1422977131 GRHPR Health Risk Likely pathogenic Primary hyperoxaluria, type II
RS1422978230 HSPB1 Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease axonal type 2F
RS1422979746 CASQ1 Health Risk Likely pathogenic Myopathy due to calsequestrin and SERCA1 protein overload, Myopathy due to calsequestrin and SERCA1 protein overload
RS1422984777 NAF1 Health Risk Likely risk allele Pulmonary fibrosis, Pulmonary fibrosis
RS142299109 SLC45A2 Health Risk Conflicting classifications of pathogenicity —
RS142299289 CFAP44 Health Risk Pathogenic —
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