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
RS149324363 PUS1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS149325238 TTC21B Health Risk Conflicting classifications of pathogenicity Nephronophthisis 12, Asphyxiating thoracic dystrophy 4
RS149326194 MCM3AP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, MCM3AP-related disorder
RS149326648 ENTPD1 Health Risk Pathogenic Hereditary spastic paraplegia 64, Hereditary spastic paraplegia 64
RS149327827 TMEM138 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 16, Joubert syndrome 16
RS149328427 KIF21A Health Risk Conflicting classifications of pathogenicity Congenital fibrosis of extraocular muscles type 1, Inborn genetic diseases
RS149328619 FUT8 Health Risk Conflicting classifications of pathogenicity FUT8-related disorder, Congenital disorder of glycosylation with defective fucosylation 1
RS149329415 HMCN1 Health Risk Conflicting classifications of pathogenicity —
RS149329546 LEPR Health Risk Conflicting classifications of pathogenicity Monogenic diabetes, LEPR-related disorder
RS149329669 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS149330063 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS149330066 VAV1 Health Risk Conflicting classifications of pathogenicity —
RS149330072 ZFYVE26 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Inborn genetic diseases
RS149330325 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Collagen 6-related myopathy
RS149330798 DNASE1L3 Health Risk Conflicting classifications of pathogenicity —
RS149330893 BRCA2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS149331149 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
RS149331537 RAD51C Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group O
RS149331610 DHX37 Health Risk Pathogenic Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies, Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies
RS149333409 PRDM16 Health Risk Conflicting classifications of pathogenicity Left ventricular noncompaction 8, PRDM16-related disorder
RS149334616 VPS13B Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Inborn genetic diseases
RS149334737 GPR101 Health Risk Conflicting classifications of pathogenicity —
RS149335121 TRPM4 Health Risk Conflicting classifications of pathogenicity Progressive familial heart block type IB, Cardiovascular phenotype
RS149335528 COQ8A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS149336067 CD81 Health Risk Conflicting classifications of pathogenicity —
RS149338158 COL6A1 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A
RS149338401 KCNE1 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS149338478 NOD2 Health Risk Conflicting classifications of pathogenicity Blau syndrome, Inflammatory bowel disease 1
RS149339264 LMNA Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Cardiovascular phenotype
RS149340262 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS149342331 DST Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 3, localized or generalized intermediate
RS149342494 CTF1 Health Risk Conflicting classifications of pathogenicity —
RS149342980 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS149344567 KCND3 Health Risk Conflicting classifications of pathogenicity Brugada syndrome 9, Cardiovascular phenotype
RS149344570 EVC Health Risk Conflicting classifications of pathogenicity Ellis-van Creveld syndrome, Curry-Hall syndrome
RS149344911 CYBA Health Risk Conflicting classifications of pathogenicity Granulomatous disease, chronic
RS149346187 CERKL Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 26, Retinitis pigmentosa
RS149347582 DSC2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 11, Cardiovascular phenotype
RS149347601 LAMA2 Health Risk Conflicting classifications of pathogenicity Congenital muscular dystrophy due to partial LAMA2 deficiency, LAMA2-related muscular dystrophy
RS149348130 PEX16 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 8A (Zellweger), Peroxisome biogenesis disorder
RS149348427 LDB3 Health Risk Conflicting classifications of pathogenicity Myofibrillar myopathy 4, Dilated cardiomyopathy 1C
RS149348765 HIF1A Health Risk Conflicting classifications of pathogenicity Enchondromatosis, Enchondromatosis
RS149348999 GPI Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Hemolytic anemia due to glucophosphate isomerase deficiency
RS149350006 CEP164 Health Risk Conflicting classifications of pathogenicity Nephronophthisis 15, Nephronophthisis 15
RS149350323 MSH3 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 4
RS149353082 APC Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome
RS149353780 GFAP Health Risk Conflicting classifications of pathogenicity —
RS149354607 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS149354918 ODAD1 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 20
RS149357946 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS149358359 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS149358620 LAMA5 Health Risk Conflicting classifications of pathogenicity LAMA5-related disorder, Inborn genetic diseases
RS149358702 BAG3 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6
RS149359120 RB1 Health Risk Conflicting classifications of pathogenicity Retinoblastoma, Hereditary cancer-predisposing syndrome
RS149359139 IFT140 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Saldino-Mainzer syndrome
RS149359610 ABCC2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS149359674 SDCCAG8 Health Risk Conflicting classifications of pathogenicity Senior-Loken syndrome 7, Bardet-Biedl syndrome 16
RS149359860 PDE6B Health Risk Conflicting classifications of pathogenicity Congenital stationary night blindness autosomal dominant 2, Retinitis pigmentosa
RS149359927 WRAP53 Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, WRAP53-related disorder
RS149360088 NCKAP1L Health Risk Conflicting classifications of pathogenicity NCKAP1L-related disorder, NCKAP1L-related disorder
RS149360920 OPA3 Health Risk Conflicting classifications of pathogenicity Optic atrophy 3, 3-Methylglutaconic aciduria type 3
RS149362446 BBS9 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, BBS9-related disorder
RS149362508 SETX Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia
RS149362848 SLC4A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, 11 conditions
RS149363953 WNT7A Health Risk Conflicting classifications of pathogenicity WNT7A-related disorder, WNT7A-related disorder
RS149364097 BRIP1 Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group J, Hereditary cancer-predisposing syndrome
RS149364215 ERCC4 Health Risk Likely pathogenic Fanconi anemia complementation group Q, Cockayne syndrome
RS149364914 COQ8A Health Risk Conflicting classifications of pathogenicity —
RS149364992 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 7
RS149365469 ACD Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, autosomal dominant 6
RS149366137 C2CD3 Health Risk Pathogenic/Likely pathogenic Orofaciodigital syndrome type 14, Malignant tumor of urinary bladder
RS149368374 ODAD2 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia 23, Primary ciliary dyskinesia
RS149368999 F12 Health Risk Conflicting classifications of pathogenicity Hereditary angioedema type 3, Factor XII deficiency disease
RS149369902 BAAT Health Risk Conflicting classifications of pathogenicity BAAT-related disorder, BAAT-related disorder
RS149370622 COLQ Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 5, Congenital myasthenic syndrome 5
RS149371094 ARHGEF15 Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS149372969 ATP13A2 Health Risk Conflicting classifications of pathogenicity Kufor-Rakeb syndrome, Autosomal recessive spastic paraplegia type 78
RS149373164 FAT4 Health Risk Conflicting classifications of pathogenicity FAT4-related disorder, Van Maldergem syndrome 2
RS149375186 COL2A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS149375515 EGFR Health Risk Conflicting classifications of pathogenicity EGFR-related lung cancer, Hereditary cancer-predisposing syndrome
RS149375775 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS149378938 VARS1 Health Risk Likely pathogenic Neurodevelopmental disorder with microcephaly, seizures
RS149379900 PIGV Health Risk Conflicting classifications of pathogenicity Hyperphosphatasia with intellectual disability syndrome 1, PIGV-related disorder
RS149380104 PDE6A Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS149380763 MEFV Health Risk Conflicting classifications of pathogenicity Familial Mediterranean fever, Autoinflammatory syndrome
RS149380994 EP300 Health Risk Conflicting classifications of pathogenicity EP300-related disorder, Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
RS149381805 PIK3AP1 Health Risk Conflicting classifications of pathogenicity Infantile spasms, Infantile spasms
RS149381884 ABCA4 Health Risk Pathogenic —
RS149382642 ERCC6 Health Risk Conflicting classifications of pathogenicity Cockayne syndrome type 2, Age related macular degeneration 5
RS149382836 BCS1L Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Colorectal cancer
RS149383809 MEN1 Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 1
RS149384350 PCDH15 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1F, Inborn genetic diseases
RS149384771 GAA Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type II
RS149384863 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS149385240 MTTP Health Risk Pathogenic —
RS149386446 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
RS149386750 MYH7 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 1, MYH7-related skeletal myopathy
RS149388130 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group A
RS149388376 WNK1 Health Risk Conflicting classifications of pathogenicity Pseudohypoaldosteronism type 2C, Neuropathy
RS149388680 KMT2C Health Risk Conflicting classifications of pathogenicity —
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