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
RS200776293 POLE Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS200776610 MET Health Risk Conflicting classifications of pathogenicity Renal cell carcinoma, Hereditary cancer-predisposing syndrome
RS200776757 FGFR1 Health Risk Conflicting classifications of pathogenicity Osteoglophonic dysplasia, Craniosynostosis syndrome
RS200776925 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS200777037 SNTA1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome
RS200777054 HADHB Health Risk Pathogenic/Likely pathogenic Mitochondrial trifunctional protein deficiency, Mitochondrial trifunctional protein deficiency 1
RS200777153 KANSL1 Health Risk Conflicting classifications of pathogenicity Koolen-de Vries syndrome, Sarcoma
RS200777304 CASR Health Risk Conflicting classifications of pathogenicity Familial hypocalciuric hypercalcemia, Autosomal dominant hypocalcemia 1
RS200777536 PPT1 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis 1, Familial cancer of breast
RS200777598 RYR1 Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to
RS200777680 CHIT1 Health Risk Conflicting classifications of pathogenicity Chitotriosidase deficiency, Chitotriosidase deficiency
RS200778121 AARS2 Health Risk Conflicting classifications of pathogenicity Combined oxidative phosphorylation defect type 8, Combined oxidative phosphorylation defect type 8
RS200778244 FREM1 Health Risk Likely pathogenic Oculotrichoanal syndrome, BNAR syndrome
RS200778360 SETX Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia
RS200778464 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS200778633 FBN3 Health Risk Conflicting classifications of pathogenicity —
RS200778905 FIG4 Health Risk Conflicting classifications of pathogenicity Yunis-Varon syndrome, Charcot-Marie-Tooth disease type 4
RS200779504 KRT14 Health Risk Likely pathogenic Epidermolysis bullosa simplex 1D, generalized
RS200779594 VIPAS39 Health Risk Pathogenic Arthrogryposis, renal dysfunction
RS200779709 USH1C Health Risk Conflicting classifications of pathogenicity —
RS200780140 POMT1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2K, Walker-Warburg congenital muscular dystrophy
RS200780217 SCN9A Health Risk Conflicting classifications of pathogenicity Channelopathy-associated congenital insensitivity to pain, autosomal recessive
RS200780612 MYH3 Health Risk Conflicting classifications of pathogenicity Distal arthrogryposis type 2B1, Freeman-Sheldon syndrome
RS200780796 DSTYK Health Risk Conflicting classifications of pathogenicity Congenital anomalies of kidney and urinary tract 1, Congenital anomalies of kidney and urinary tract 1
RS200780805 RIN2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, RIN2-related disorder
RS200780880 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS200781118 LBR Health Risk Conflicting classifications of pathogenicity Greenberg dysplasia, Greenberg dysplasia
RS200781310 MYO15A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 3, Inborn genetic diseases
RS200781477 AARS2 Health Risk Pathogenic —
RS200781791 BARD1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS200781822 MARVELD2 Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 49, Autosomal recessive nonsyndromic hearing loss 49
RS200782068 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS200782591 HNF1B Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young, Maturity-onset diabetes of the young
RS200782641 CNTN5 Health Risk Conflicting classifications of pathogenicity —
RS200782888 CREBBP Health Risk Pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome
RS200783308 SCN2A Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 11
RS200783529 MUSK Health Risk Pathogenic Congenital myasthenic syndrome 4C, Fetal akinesia deformation sequence 1
RS200783718 LAMC2 Health Risk Pathogenic Junctional epidermolysis bullosa, non-Herlitz type
RS200784551 SRPX2 Health Risk Conflicting classifications of pathogenicity Rolandic epilepsy, intellectual disability
RS200784803 GNPTAB Health Risk Conflicting classifications of pathogenicity Pseudo-Hurler polydystrophy, Mucolipidosis type II
RS200784979 SBF2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4B2
RS200785120 GCDH Health Risk Likely pathogenic Glutaric aciduria, type 1
RS200785483 ANGPTL3 Health Risk Pathogenic Familial hypobetalipoproteinemia 2, Familial hypobetalipoproteinemia 2
RS200785525 DUOX2 Health Risk Conflicting classifications of pathogenicity Thyroid dyshormonogenesis 6, Thyroid dyshormonogenesis 6
RS200785744 PNKP Health Risk Conflicting classifications of pathogenicity Microcephaly, seizures
RS200786014 CDH23 Health Risk Conflicting classifications of pathogenicity Childhood onset hearing loss, Childhood onset hearing loss
RS200786329 COL4A1 Health Risk Conflicting classifications of pathogenicity Hemorrhage, intracerebral
RS200786364 AHNAK2 Health Risk Conflicting classifications of pathogenicity —
RS200787538 DTHD1 Health Risk Conflicting classifications of pathogenicity —
RS200787781 SPTB Health Risk Conflicting classifications of pathogenicity —
RS200788099 ABCA1 Health Risk Conflicting classifications of pathogenicity Hypoalphalipoproteinemia, primary
RS200788163 PHIP Health Risk Pathogenic/Likely pathogenic PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome, PHIP-related disorder
RS200788251 ACADVL Health Risk Likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS200788729 DHTKD1 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS200788902 CSF1R Health Risk Conflicting classifications of pathogenicity —
RS200789117 NDUFAF3 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 1
RS200789563 ADGRV1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2, Usher syndrome type 2C
RS200790174 SETD1A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Epilepsy
RS200790561 CARD14 Health Risk Conflicting classifications of pathogenicity Psoriasis 2, Pityriasis rubra pilaris
RS200790641 WFS1 Health Risk Conflicting classifications of pathogenicity Wolfram syndrome 1, Inborn genetic diseases
RS200790673 PIGT Health Risk Pathogenic Multiple congenital anomalies-hypotonia-seizures syndrome 3, Malignant tumor of urinary bladder
RS200790812 USH2A Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Inborn genetic diseases
RS200790957 SCN9A Health Risk Conflicting classifications of pathogenicity Primary erythromelalgia, Channelopathy-associated congenital insensitivity to pain
RS200791116 TYK2 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 35, Immunodeficiency 35
RS200791329 SLC39A7 Health Risk Conflicting classifications of pathogenicity —
RS200791367 ANK3 Health Risk Conflicting classifications of pathogenicity —
RS200792058 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiomyopathy
RS200792120 TECPR2 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 49, Hereditary spastic paraplegia
RS200792504 NRXN1 Health Risk Conflicting classifications of pathogenicity Pitt-Hopkins-like syndrome 2, Chromosome 2p16.3 deletion syndrome
RS200792578 USH2A Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 39, Usher syndrome type 2A
RS200792658 ADGRV1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2, Usher syndrome type 2C
RS200792813 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypertrophic cardiomyopathy 26
RS200792883 CHMP2B Health Risk Conflicting classifications of pathogenicity Frontotemporal dementia and/or amyotrophic lateral sclerosis 7, Amyotrophic lateral sclerosis
RS200792895 NPRL3 Health Risk Conflicting classifications of pathogenicity Epilepsy, familial focal
RS200793269 DNAH1 Health Risk Conflicting classifications of pathogenicity Spermatogenic failure 18, Ciliary dyskinesia
RS200793396 ARSB Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS200793464 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Amyotrophic lateral sclerosis type 5
RS200793488 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS200793584 SCAPER Health Risk Conflicting classifications of pathogenicity SCAPER-related disorder, Optic atrophy
RS200793989 TRIOBP Health Risk Conflicting classifications of pathogenicity TRIOBP-related disorder, TRIOBP-related disorder
RS200794097 APC Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome
RS200794710 WNK1 Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory and autonomic
RS200794870 INPP5E Health Risk Conflicting classifications of pathogenicity Joubert syndrome, INPP5E-related disorder
RS200795497 CELSR1 Health Risk Conflicting classifications of pathogenicity —
RS200795795 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS200795955 LRRK2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant Parkinson disease 8, Autosomal dominant Parkinson disease 8
RS200795996 EPHB4 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS200796146 IFNAR1 Health Risk Conflicting classifications of pathogenicity —
RS200796314 KCNQ1 Health Risk Conflicting classifications of pathogenicity Long QT syndrome 1, Atrial fibrillation
RS200796474 PKD1 Health Risk Conflicting classifications of pathogenicity PKD1-related disorder, Polycystic kidney disease
RS200796501 PSTPIP1 Health Risk Conflicting classifications of pathogenicity Pyogenic arthritis-pyoderma gangrenosum-acne syndrome, Autoinflammatory syndrome
RS200796513 TPO Health Risk Conflicting classifications of pathogenicity Deficiency of iodide peroxidase, Inborn genetic diseases
RS200796606 FH Health Risk Conflicting classifications of pathogenicity Fumarase deficiency, Hereditary cancer-predisposing syndrome
RS200796750 LDB3 Health Risk Conflicting classifications of pathogenicity Myofibrillar myopathy 4, Hypertrophic cardiomyopathy
RS200796753 LAMA2 Health Risk Conflicting classifications of pathogenicity LAMA2-related muscular dystrophy, Congenital muscular dystrophy due to partial LAMA2 deficiency
RS200796765 HIVEP1 Health Risk Conflicting classifications of pathogenicity HIVEP1-related disorder, HIVEP1-related disorder
RS200797233 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, COL6A2-related disorder
RS200797340 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS200797401 OTOGL Health Risk Conflicting classifications of pathogenicity —
RS200797552 TTN Health Risk Likely pathogenic Tibial muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2J
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