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
RS1298746949 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia 7, Primary ciliary dyskinesia 7
RS1298749678 HNF1A Health Risk Uncertain risk allele Maturity-onset diabetes of the young, Maturity-onset diabetes of the young
RS1298763139 CEP250 Health Risk Conflicting classifications of pathogenicity —
RS1298765257 SCN1A Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS1298787017 IGHMBP2 Health Risk Pathogenic Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease axonal type 2S
RS1298787753 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS1298790222 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS12987977 IL18R1 Health Risk association Behcet disease, Behcet disease
RS1298804148 LRTOMT Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 63, Autosomal recessive nonsyndromic hearing loss 63
RS1298807209 ANK2 Health Risk Pathogenic/Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS1298815479 FH Health Risk Conflicting classifications of pathogenicity Fumarase deficiency, Hereditary cancer-predisposing syndrome
RS1298823471 BCKDHA Health Risk Pathogenic/Likely pathogenic Maple syrup urine disease, Maple syrup urine disease
RS1298830102 L1CAM Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, MASA syndrome
RS1298836193 HBA1 Health Risk Pathogenic —
RS1298839151 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS1298844321 SCN5A Health Risk Conflicting classifications of pathogenicity Cardiac arrhythmia, Cardiac arrhythmia
RS1298852084 USH2A Health Risk Conflicting classifications of pathogenicity —
RS1298858763 CPE Health Risk Pathogenic BDV syndrome, BDV syndrome
RS1298860043 FARS2 Health Risk Likely pathogenic Combined oxidative phosphorylation defect type 14, Combined oxidative phosphorylation defect type 14
RS1298863214 CSNK2A1 Health Risk Pathogenic —
RS1298866730 VRK1 Health Risk Pathogenic Pontocerebellar hypoplasia type 1A, Pontocerebellar hypoplasia type 1A
RS1298883200 HADHA Health Risk Pathogenic/Likely pathogenic Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Mitochondrial trifunctional protein deficiency
RS1298889640 EIF2B5 Health Risk Conflicting classifications of pathogenicity —
RS1298896114 HNF4A Health Risk Pathogenic Monogenic diabetes, Monogenic diabetes
RS1298953581 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Inborn genetic diseases
RS1298979445 NRCAM Health Risk Pathogenic NRCAM-related disorder, NRCAM-related disorder
RS1298988264 MSH3 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1298999570 TRAIP Health Risk Pathogenic —
RS1298999791 AGL Health Risk Pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS1299020576 ADGRV1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1299043216 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome 1, Kabuki syndrome
RS1299045693 RAB11B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1299071387 BEST1 Health Risk Likely pathogenic —
RS1299079662 MYBPC3 Health Risk Pathogenic Hypertrophic cardiomyopathy, Cardiovascular phenotype
RS1299080019 CLCNKB Health Risk Likely pathogenic —
RS1299091971 TREM2 Health Risk Pathogenic —
RS1299109745 CYP24A1 Health Risk Pathogenic Hypercalcemia, infantile
RS1299129734 PKHD1 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease 4, PKHD1-related disorder
RS1299138529 MEN1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia
RS1299184638 KARS1 Health Risk Likely pathogenic Leukoencephalopathy, progressive
RS1299196993 DNAH8 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1299207831 ARSB Health Risk Pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS1299250440 CFTR Health Risk Pathogenic Cystic fibrosis, Bronchiectasis with or without elevated sweat chloride 1
RS1299272913 BLM Health Risk Pathogenic Bloom syndrome, Bloom syndrome
RS1299279813 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS1299282207 TUBGCP6 Health Risk Pathogenic —
RS1299296008 DCTN1 Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 1, Neuronopathy
RS1299306446 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS1299325261 GJB1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Charcot-Marie-Tooth Neuropathy X
RS1299329919 LTBP2 Health Risk Pathogenic —
RS1299335718 MED17 Health Risk Likely pathogenic Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly, Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
RS1299341772 PCNT Health Risk Likely pathogenic —
RS1299344520 TERT Health Risk Likely pathogenic Dyskeratosis congenita, autosomal dominant 2
RS1299355731 EYS Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 25, Retinal dystrophy
RS1299415607 HPS5 Health Risk Pathogenic —
RS1299440644 AXIN2 Health Risk Pathogenic Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome
RS1299454627 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Charlevoix-Saguenay spastic ataxia
RS1299460488 TSHR Health Risk Pathogenic —
RS1299462712 TUBGCP6 Health Risk Pathogenic —
RS12994774 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1299487054 POLG Health Risk Likely pathogenic Progressive sclerosing poliodystrophy, Mitochondrial DNA depletion syndrome 4b
RS1299517586 SMAD3 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Aneurysm-osteoarthritis syndrome
RS1299524768 KARS1 Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 89, Autosomal recessive nonsyndromic hearing loss 89
RS1299570489 ALDH7A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Pyridoxine-dependent epilepsy
RS1299596156 FGA Health Risk Pathogenic/Likely pathogenic Afibrinogenemia, Congenital afibrinogenemia
RS1299627284 SETD5 Health Risk Pathogenic Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency, Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
RS1299627822 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1299632365 IFT122 Health Risk Pathogenic Cranioectodermal dysplasia 1, Cranioectodermal dysplasia 1
RS1299646067 HMGCL Health Risk Likely pathogenic Deficiency of hydroxymethylglutaryl-CoA lyase, Deficiency of hydroxymethylglutaryl-CoA lyase
RS1299648939 COL7A1 Health Risk Likely pathogenic Transient bullous dermolysis of the newborn, Epidermolysis bullosa dystrophica
RS1299674857 CNTN1 Health Risk Conflicting classifications of pathogenicity Compton-North congenital myopathy, Inborn genetic diseases
RS1299700179 CHRNA2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy, Autosomal dominant nocturnal frontal lobe epilepsy
RS1299711051 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS1299725201 ZMYM2 Health Risk Likely pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS1299733113 SLC26A2 Health Risk Likely pathogenic Achondrogenesis, type IB
RS1299743556 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS1299754311 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS1299775990 ALG1 Health Risk Pathogenic Congenital disorder of glycosylation, ALG1-congenital disorder of glycosylation
RS1299780528 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS1299824475 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1299846526 BRIP1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Fanconi anemia complementation group J
RS1299853886 CTC1 Health Risk Pathogenic Cerebroretinal microangiopathy with calcifications and cysts 1, Dyskeratosis congenita
RS1299873356 FANCM Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1299876653 SLC17A5 Health Risk Likely pathogenic Salla disease, Salla disease
RS1299889681 PKLR Health Risk Likely pathogenic —
RS1299889689 CBL Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, RASopathy
RS1299892808 JAK2 Health Risk Conflicting classifications of pathogenicity Premature ovarian failure, Premature ovarian failure
RS1299898646 MYO7A Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 2, Usher syndrome type 1
RS1299908416 NSD1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1299932363 NSD1 Health Risk Likely pathogenic Sotos syndrome, Sotos syndrome
RS1299934634 MYO18B Health Risk Likely pathogenic —
RS12999364 IL18R1 Health Risk Benign; association Behcet disease, Behcet disease
RS1299941421 PIGB Health Risk Conflicting classifications of pathogenicity —
RS1299949443 LIFR Health Risk Pathogenic —
RS1299953525 MRE11 Health Risk Pathogenic Ataxia-telangiectasia-like disorder, Ataxia-telangiectasia-like disorder
RS1299958102 MSH6 Health Risk Pathogenic/Likely pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1299990309 PCDH15 Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 23, Autosomal recessive nonsyndromic hearing loss 23
RS1299997613 GBF1 Health Risk Pathogenic/Likely pathogenic Motor axonal neuropathy, Charcot-Marie-Tooth Disease
RS1300035418 SPRED1 Health Risk Likely pathogenic Noonan syndrome and Noonan-related syndrome, Noonan syndrome and Noonan-related syndrome
RS1300041533 PROM1 Health Risk Pathogenic Leber congenital amaurosis 1, PROM1-related disorder
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