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
RS1169689300 NDUFS6 Health Risk Pathogenic/Likely pathogenic Mitochondrial complex I deficiency, nuclear type 9
RS1169717734 UGT1A1 Health Risk Likely pathogenic Gilbert syndrome, Gilbert syndrome
RS1169744090 MPL Health Risk Pathogenic/Likely pathogenic Congenital amegakaryocytic thrombocytopenia, Essential thrombocythemia
RS116974943 TMPRSS3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 8, Autosomal recessive nonsyndromic hearing loss 8
RS1169752185 COL4A3 Health Risk Conflicting classifications of pathogenicity Autosomal dominant Alport syndrome, Hematuria
RS116977551 OPA3 Health Risk Conflicting classifications of pathogenicity 3-Methylglutaconic aciduria type 3, Optic atrophy 3
RS1169783208 OCA2 Health Risk Pathogenic Tyrosinase-positive oculocutaneous albinism, OCA2-related disorder
RS1169800424 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS116980451 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS1169809892 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1169822437 PEX10 Health Risk Likely pathogenic Peroxisome biogenesis disorder 6A (Zellweger), Peroxisome biogenesis disorder 6A (Zellweger)
RS1169850759 ABCA4 Health Risk Pathogenic/Likely pathogenic Cone-rod dystrophy 3, Age related macular degeneration 2
RS116985497 HLCS Health Risk Conflicting classifications of pathogenicity Holocarboxylase synthetase deficiency, HLCS-related disorder
RS1169861687 PCCA Health Risk Likely pathogenic Propionic acidemia, PCCA-related disorder
RS1169866178 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma
RS116987552 PYGM Health Risk Pathogenic Glycogen storage disease, type V
RS1169875761 CPT1A Health Risk Pathogenic Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency
RS1169880026 NTRK2 Health Risk Conflicting classifications of pathogenicity Obesity, hyperphagia
RS116988549 PKD1L1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1169894160 RAD51D Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS1169898186 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS1169912956 SDHA Health Risk Conflicting classifications of pathogenicity Mitochondrial complex II deficiency, nuclear type 1
RS1169917994 SOD1 Health Risk Likely pathogenic Amyotrophic lateral sclerosis type 1, SOD1-related disorder
RS1169927428 PRORP Health Risk Pathogenic/Likely pathogenic Perrault syndrome 1, Combined oxidative phosphorylation deficiency 54
RS1169938399 RYR1 Health Risk Pathogenic RYR1-related disorder, RYR1-related disorder
RS1169954783 MYO15A Health Risk Pathogenic/Likely pathogenic Childhood onset hearing loss, Childhood onset hearing loss
RS1169959260 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS1169967969 FLNC Health Risk Pathogenic Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26
RS116998555 WNT10A Health Risk Conflicting classifications of pathogenicity Schöpf-Schulz-Passarge syndrome, Odonto-onycho-dermal dysplasia
RS1170011808 ELAC2 Health Risk Pathogenic Combined oxidative phosphorylation defect type 17, Combined oxidative phosphorylation defect type 17
RS117001332 TPSG1 Health Risk Conflicting classifications of pathogenicity —
RS1170028069 MAT1A Health Risk Pathogenic —
RS1170038377 SLC39A7 Health Risk Pathogenic Agammaglobulinemia 9, autosomal recessive
RS1170041461 DOCK6 Health Risk Likely pathogenic —
RS1170047320 PYGL Health Risk Pathogenic Glycogen storage disease, type VI
RS1170049553 BLM Health Risk Pathogenic Bloom syndrome, Bloom syndrome
RS117005078 OTOG Health Risk Conflicting classifications of pathogenicity Meniere disease, Meniere disease
RS1170064033 LAMC3 Health Risk Likely pathogenic Occipital pachygyria and polymicrogyria, Occipital pachygyria and polymicrogyria
RS1170069201 PIK3CA Health Risk Conflicting classifications of pathogenicity Cowden syndrome, Cowden syndrome 5
RS1170091784 RNF43 Health Risk Likely pathogenic —
RS117012322 ECEL1 Health Risk Conflicting classifications of pathogenicity —
RS1170128038 CBS Health Risk Pathogenic/Likely pathogenic HYPERHOMOCYSTEINEMIA, THROMBOTIC
RS1170138989 AGRN Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 8, Inborn genetic diseases
RS1170149970 LMBRD1 Health Risk Pathogenic Methylmalonic aciduria and homocystinuria type cblF, Methylmalonic aciduria and homocystinuria type cblF
RS117016551 WNK1 Health Risk Conflicting classifications of pathogenicity Pseudohypoaldosteronism type 2C, Neuropathy
RS117017152 DMXL2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1170194230 GCK Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young type 2, Maturity-onset diabetes of the young type 2
RS1170201571 NDUFAF5 Health Risk Pathogenic —
RS1170204399 CC2D2A Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS11702055 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Melanoma
RS117021471 MYO15A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS1170222257 NDRG1 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS1170254952 COL4A5 Health Risk Pathogenic —
RS1170262447 TRIM37 Health Risk Pathogenic/Likely pathogenic Mulibrey nanism syndrome, Mulibrey nanism syndrome
RS1170311490 PIGW Health Risk Pathogenic Hyperphosphatasia with intellectual disability syndrome 5, Hyperphosphatasia with intellectual disability syndrome 5
RS1170313629 FLAD1 Health Risk Likely pathogenic —
RS1170321638 MME Health Risk Likely pathogenic —
RS1170323988 WT1 Health Risk Conflicting classifications of pathogenicity Drash syndrome, Frasier syndrome
RS117033008 BBS2 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Bardet-Biedl syndrome 1
RS117034581 TSPEAR Health Risk Conflicting classifications of pathogenicity TSPEAR-related disorder, TSPEAR-related disorder
RS1170362213 MACF1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1170363408 LZTR1 Health Risk Likely pathogenic Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS1170374164 TRAPPC11 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type R18, Autosomal recessive limb-girdle muscular dystrophy type R18
RS1170385434 GLDC Health Risk Pathogenic Glycine encephalopathy, Glycine encephalopathy
RS1170393191 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia 1
RS1170410040 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS1170413397 ASPM Health Risk Pathogenic Inborn genetic diseases, Microcephaly 5
RS1170430756 SERPINC1 Health Risk Pathogenic Hereditary antithrombin deficiency, Hereditary antithrombin deficiency
RS1170446813 PNPLA1 Health Risk Likely pathogenic Autosomal recessive congenital ichthyosis 10, Autosomal recessive congenital ichthyosis 10
RS1170451277 CEP290 Health Risk Pathogenic/Likely pathogenic CEP290-related disorder, Meckel-Gruber syndrome
RS1170466474 SMN1 Health Risk Likely pathogenic —
RS1170509653 SRCAP Health Risk Conflicting classifications of pathogenicity Autism spectrum disorder, Autism spectrum disorder
RS1170510043 MYO7A Health Risk Pathogenic —
RS1170510858 COL7A1 Health Risk Conflicting classifications of pathogenicity Recessive dystrophic epidermolysis bullosa, Recessive dystrophic epidermolysis bullosa
RS117056541 TBX10 Health Risk Conflicting classifications of pathogenicity Mendelian syndromes with cleft lip/palate, TBX10-related disorder
RS117056996 LAMA3 Health Risk Conflicting classifications of pathogenicity Laryngo-onycho-cutaneous syndrome, Junctional epidermolysis bullosa gravis of Herlitz
RS1170578408 ADGRV1 Health Risk Pathogenic —
RS1170589314 MID2 Health Risk Conflicting classifications of pathogenicity —
RS1170598133 PYGM Health Risk Likely pathogenic Glycogen storage disease, type V
RS1170628768 CHRNA7 Health Risk Conflicting classifications of pathogenicity —
RS117063344 MCM4 Health Risk Conflicting classifications of pathogenicity Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency, Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
RS1170665581 SCN1A Health Risk Conflicting classifications of pathogenicity —
RS1170676998 KAT6A Health Risk Conflicting classifications of pathogenicity —
RS1170679293 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS117067974 KCNQ2 Health Risk Conflicting classifications of pathogenicity Seizures, benign familial neonatal
RS117071200 MYO15A Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS117072049 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Myopathy
RS11707242 IFT80 Health Risk Pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS1170730150 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS1170732591 WRN Health Risk Likely pathogenic Werner syndrome, Werner syndrome
RS1170743406 PNKP Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 12
RS1170758603 SPTA1 Health Risk Conflicting classifications of pathogenicity —
RS117079110 HPD Health Risk Conflicting classifications of pathogenicity Tyrosinemia type III, Hawkinsinuria
RS1170792905 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1170796077 APOB Health Risk Conflicting classifications of pathogenicity Familial hypercholesterolemia, Cardiovascular phenotype
RS1170817007 ALDH7A1 Health Risk Pathogenic Pyridoxine-dependent epilepsy, Pyridoxine-dependent epilepsy
RS1170821828 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1170836879 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS1170836959 CRTAP Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type 7, Osteogenesis imperfecta type 7
RS1170838072 DNAAF11 Health Risk Pathogenic Primary ciliary dyskinesia 19, Primary ciliary dyskinesia 19
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