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
RS1049140099 EYS Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS1049144154 SMARCB1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1049158799 ADAMTS18 Health Risk Likely pathogenic —
RS1049171546 MCCC2 Health Risk Likely pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency
RS1049200635 DEAF1 Health Risk Pathogenic —
RS1049209609 ARID1B Health Risk Conflicting classifications of pathogenicity Coffin-Siris syndrome 1, Coffin-Siris syndrome 1
RS1049217 ALDH7A1 Health Risk Conflicting classifications of pathogenicity Pyridoxine-dependent epilepsy, Pyridoxine-dependent epilepsy
RS1049246177 HGD Health Risk Pathogenic Alkaptonuria, Alkaptonuria
RS1049251712 TTN Health Risk Conflicting classifications of pathogenicity —
RS1049324 HSPB1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2F, Inborn genetic diseases
RS1049367287 ANK2 Health Risk Likely pathogenic Brugada syndrome, Brugada syndrome
RS1049368346 KCNJ1 Health Risk Pathogenic Bartter disease type 2, Bartter disease type 2
RS1049441176 KIF1A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 30, Neuropathy
RS1049447746 SOHLH1 Health Risk Pathogenic —
RS1049502301 NEK1 Health Risk Pathogenic; other Motor neuron disease, Short-rib thoracic dysplasia 6 with or without polydactyly
RS1049504575 ZFYVE26 Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia 15, Spastic paraplegia
RS1049529374 PRDM12 Health Risk Conflicting classifications of pathogenicity Congenital insensitivity to pain-hypohidrosis syndrome, Congenital insensitivity to pain-hypohidrosis syndrome
RS1049545383 TET2 Health Risk Conflicting classifications of pathogenicity —
RS1049555823 CLPP Health Risk Likely pathogenic —
RS1049569566 KAT6B Health Risk Pathogenic Blepharophimosis - intellectual disability syndrome, SBBYS type
RS1049580052 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Spastic paraplegia
RS1049589906 CACNA1E Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 69
RS1049601354 IFT140 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Inborn genetic diseases
RS1049603207 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Intrauterine growth retardation
RS1049618423 CLCN5 Health Risk Pathogenic/Likely pathogenic Dent disease type 1, X-linked recessive nephrolithiasis with renal failure
RS1049651735 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Inborn genetic diseases
RS1049674573 RAB23 Health Risk Pathogenic/Likely pathogenic Carpenter syndrome, Carpenter syndrome
RS1049689144 PEX11B Health Risk Conflicting classifications of pathogenicity PEX11B-related disorder, PEX11B-related disorder
RS1049732514 NF2 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 2
RS1049773 DYRK1A Health Risk Pathogenic DYRK1A-related intellectual disability syndrome, DYRK1A-related intellectual disability syndrome
RS1049785980 STAT5B Health Risk Conflicting classifications of pathogenicity Growth hormone insensitivity with immune dysregulation 1, autosomal recessive
RS1049821607 COL11A2 Health Risk Conflicting classifications of pathogenicity —
RS1049832940 COG5 Health Risk Conflicting classifications of pathogenicity COG5-congenital disorder of glycosylation, COG5-congenital disorder of glycosylation
RS1049858988 EPHB4 Health Risk Pathogenic/Likely pathogenic —
RS1049860215 BBIP1 Health Risk Conflicting classifications of pathogenicity BBIP1-related disorder, BBIP1-related disorder
RS1049866462 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Inborn genetic diseases
RS1049876333 SERPINB7 Health Risk Likely pathogenic SERPINB7-related disorder, SERPINB7-related disorder
RS1049885467 GHRHR Health Risk Pathogenic Isolated growth hormone deficiency, type 4
RS1049893722 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1049900772 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1049906925 DVL3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1049927697 SCN1B Health Risk Conflicting classifications of pathogenicity Brugada syndrome 5, Brugada syndrome 5
RS1049970703 WHRN Health Risk Pathogenic —
RS1050022799 NEFH Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, NEFH-related disorder
RS1050024952 CA4 Health Risk Pathogenic —
RS1050032491 SDHD Health Risk Pathogenic Hereditary pheochromocytoma and paraganglioma, Hereditary cancer-predisposing syndrome
RS1050035768 BTD Health Risk Conflicting classifications of pathogenicity Biotinidase deficiency, Biotinidase deficiency
RS1050082155 SH2B1 Health Risk Conflicting classifications of pathogenicity SH2B1-related disorder, SH2B1-related disorder
RS1050086 SERPINA7 Health Risk Pathogenic Thyroxine-binding globulin, slow
RS1050086118 WDR35 Health Risk Pathogenic Short-rib thoracic dysplasia 7 with or without polydactyly, Short rib-polydactyly syndrome
RS1050108506 ANK2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS1050115425 CFH Health Risk Likely pathogenic —
RS1050188504 FLCN Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome
RS1050199719 LGI3 Health Risk Pathogenic Peripheral nerve hyperexcitability syndrome, Intellectual developmental disorder with muscle tone abnormalities and distal skeletal defects
RS1050220787 MLC1 Health Risk Pathogenic/Likely pathogenic Megalencephalic leukoencephalopathy with subcortical cysts, Megalencephalic leukoencephalopathy with subcortical cysts 1
RS1050226735 PTEN Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1050237 SMARCA4 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Rhabdoid tumor predisposition syndrome 2
RS1050242868 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS1050258088 PIGN Health Risk Pathogenic/Likely pathogenic Multiple congenital anomalies-hypotonia-seizures syndrome 1, Multiple congenital anomalies-hypotonia-seizures syndrome 1
RS1050258732 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS1050289746 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1050306159 CABP4 Health Risk Conflicting classifications of pathogenicity Cone-rod synaptic disorder, congenital nonprogressive
RS1050312639 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1050332 PNKP Health Risk Conflicting classifications of pathogenicity Microcephaly, seizures
RS1050354930 ATP7A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Menkes kinky-hair syndrome
RS1050411259 DCDC2 Health Risk Pathogenic Isolated neonatal sclerosing cholangitis, Autosomal recessive nonsyndromic hearing loss 66
RS1050465802 MMUT Health Risk Pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
RS1050470790 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS1050514843 BTD Health Risk Likely pathogenic Biotinidase deficiency, Biotinidase deficiency
RS1050521607 SCN11A Health Risk Conflicting classifications of pathogenicity Hereditary sensory and autonomic neuropathy type 7, Familial episodic pain syndrome with predominantly lower limb involvement
RS1050525102 IQSEC2 Health Risk Conflicting classifications of pathogenicity Intellectual disability, X-linked 1
RS1050542397 ARHGEF18 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1050561499 ADGRV1 Health Risk Conflicting classifications of pathogenicity —
RS1050569986 ARID1B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1050579652 CNGA3 Health Risk Pathogenic —
RS1050594534 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1050602820 CACNA1H Health Risk Conflicting classifications of pathogenicity Epilepsy, childhood absence
RS1050618792 IMPG2 Health Risk Likely pathogenic —
RS1050676312 CEP41 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 15, Joubert syndrome 15
RS1050740821 ERCC2 Health Risk Pathogenic/Likely pathogenic Cerebrooculofacioskeletal syndrome 2, Cerebrooculofacioskeletal syndrome 2
RS1050742628 EYS Health Risk Pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS10507522 LACC1 Health Risk Uncertain risk allele Leprosy, susceptibility to
RS1050752347 FZD4 Health Risk Conflicting classifications of pathogenicity Exudative vitreoretinopathy 1, Exudative vitreoretinopathy 1
RS1050777749 RPGRIP1L Health Risk Pathogenic/Likely pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS1050797523 COL7A1 Health Risk Likely pathogenic Recessive dystrophic epidermolysis bullosa, Transient bullous dermolysis of the newborn
RS1050799252 SETBP1 Health Risk Conflicting classifications of pathogenicity —
RS1050800969 AFG2A Health Risk Pathogenic Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome, Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
RS1050823116 FLG2 Health Risk Pathogenic/Likely pathogenic Peeling skin syndrome 6, Peeling skin syndrome 6
RS1050828 G6PD Health Risk Pathogenic/Likely pathogenic G6PD ASAHI, Anemia
RS1050829 G6PD Health Risk Conflicting classifications of pathogenicity G6PD A+, Anemia
RS1050845490 SORL1 Health Risk Pathogenic —
RS1050852336 SELENON Health Risk Conflicting classifications of pathogenicity Eichsfeld type congenital muscular dystrophy, Inborn genetic diseases
RS1050860620 RECQL4 Health Risk Likely pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
RS1050927346 ABCC6 Health Risk Pathogenic Autosomal recessive inherited pseudoxanthoma elasticum, Autosomal recessive inherited pseudoxanthoma elasticum
RS1050929 EDNRB Health Risk Conflicting classifications of pathogenicity Hirschsprung disease, susceptibility to
RS1050943261 NEK2 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS10509681 CYP2C8 Health Risk Benign; association Pulmonary disease, chronic obstructive
RS1050977100 EHMT1 Health Risk Conflicting classifications of pathogenicity Kleefstra syndrome 1, Kleefstra syndrome 1
RS1050997719 MYH7B Health Risk Pathogenic Hypertrophic cardiomyopathy 1, Hypertrophic cardiomyopathy 1
RS1051007448 TMPO Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Loeys-Dietz syndrome 2
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