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
RS1030580842 FANCM Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS1030581337 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5B, with muscular dystrophy
RS1030596307 TRIT1 Health Risk Pathogenic —
RS1030615093 RAI1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1030637532 RYR1 Health Risk Pathogenic RYR1-related disorder, RYR1-related disorder
RS1030646527 INTS1 Health Risk Pathogenic Neurodevelopmental disorder with cataracts, poor growth
RS1030663609 SEPSECS Health Risk Pathogenic —
RS1030686989 ARID1A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1030703466 TTN Health Risk Conflicting classifications of pathogenicity 6 conditions, 6 conditions
RS1030725225 CFTR Health Risk Likely pathogenic Cystic fibrosis, Cystic fibrosis
RS1030733127 CR2 Health Risk Pathogenic Immunodeficiency, common variable
RS1030751538 RBM20 Health Risk Pathogenic Dilated cardiomyopathy 1DD, Cardiovascular phenotype
RS1030766172 UNC13D Health Risk Likely pathogenic Familial hemophagocytic lymphohistiocytosis 3, Familial hemophagocytic lymphohistiocytosis 3
RS1030849527 PTS Health Risk Conflicting classifications of pathogenicity 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency, 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency
RS1030888252 ABCA1 Health Risk Pathogenic —
RS1030945020 CPLANE1 Health Risk Conflicting classifications of pathogenicity Orofaciodigital syndrome type 6, Joubert syndrome 17
RS1030961946 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS1030974786 AMPD2 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 63, Pontocerebellar hypoplasia type 9
RS1030979700 SPR Health Risk Conflicting classifications of pathogenicity Dopa-responsive dystonia due to sepiapterin reductase deficiency, Dystonic disorder
RS1030984228 F5 Health Risk Pathogenic Congenital factor V deficiency, Congenital factor V deficiency
RS1031011371 STAG3 Health Risk Pathogenic/Likely pathogenic Premature ovarian failure 8, Spermatogenic failure 61
RS1031019051 TYMP Health Risk Pathogenic —
RS1031056604 MTHFD1 Health Risk Conflicting classifications of pathogenicity Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia, Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia
RS1031077618 TULP1 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 15, Retinitis pigmentosa
RS1031182598 TTN Health Risk Pathogenic/Likely pathogenic Cardiovascular phenotype, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1031189017 CYBB Health Risk Conflicting classifications of pathogenicity Chronic granulomatous disease, Granulomatous disease
RS1031189046 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS1031199399 BARD1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1031224658 CSF3R Health Risk Likely pathogenic Severe congenital neutropenia, Severe congenital neutropenia
RS1031257695 AIMP1 Health Risk Pathogenic —
RS1031265089 FLNC Health Risk Conflicting classifications of pathogenicity Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26
RS1031268531 TYR Health Risk Pathogenic/Likely pathogenic Oculocutaneous albinism type 1A, Oculocutaneous albinism
RS1031292934 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS1031314447 NALCN Health Risk Pathogenic Hypotonia, infantile
RS1031329993 CDK4 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial melanoma
RS1031415706 CRB1 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 12, Leber congenital amaurosis 8
RS1031421025 BLM Health Risk Conflicting classifications of pathogenicity Bloom syndrome, Hereditary cancer-predisposing syndrome
RS1031543708 TTN Health Risk Conflicting classifications of pathogenicity —
RS1031569954 HGD Health Risk Likely pathogenic Alkaptonuria, Alkaptonuria
RS1031614168 SPG7 Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia 7, Hereditary spastic paraplegia 7
RS1031636348 PPP2R5D Health Risk Conflicting classifications of pathogenicity —
RS1031660226 TULP1 Health Risk Likely pathogenic —
RS1031665170 NOTCH2 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, Inborn genetic diseases
RS1031719032 COG2 Health Risk Pathogenic Congenital disorder of glycosylation, type IIq
RS1031720654 GJC2 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Hypomyelinating leukodystrophy 2
RS1031739823 SUCLA2 Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
RS1031744496 NPHS2 Health Risk Conflicting classifications of pathogenicity Nephrotic syndrome, type 2
RS1031781302 MYH3 Health Risk Conflicting classifications of pathogenicity Contractures, pterygia
RS1031787378 PALB2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1031814673 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1031852692 DNAAF5;PRKAR1B Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, DNAAF5-related disorder
RS1031885122 SMARCA4 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Rhabdoid tumor predisposition syndrome 2
RS1031904976 HNF4A Health Risk Conflicting classifications of pathogenicity Familial hyperinsulinism, Maturity-onset diabetes of the young type 1
RS1031919395 FH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fumarase deficiency
RS1031968916 PEX16 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder, Peroxisome biogenesis disorder
RS1031980569 MTOR Health Risk Conflicting classifications of pathogenicity MTOR-related disorder, MTOR-related disorder
RS1032003580 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Myofibrillar myopathy 5
RS1032006770 EGFR Health Risk Conflicting classifications of pathogenicity EGFR-related lung cancer, Hereditary cancer-predisposing syndrome
RS1032014108 RAD50 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1032016970 SDHD Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Pheochromocytoma
RS1032017865 COL5A1 Health Risk Pathogenic Ehlers-Danlos syndrome, classic type
RS1032055611 HNF4A Health Risk Pathogenic Monogenic diabetes, Maturity-onset diabetes of the young
RS1032100840 PTPN11 Health Risk Conflicting classifications of pathogenicity RASopathy, Juvenile myelomonocytic leukemia
RS1032106566 TERC Health Risk Likely risk allele Pulmonary fibrosis, Pulmonary fibrosis
RS1032144565 PPA2 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1032171597 AIRE Health Risk Likely pathogenic Polyglandular autoimmune syndrome, type 1
RS1032226790 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1032236740 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, Pleuropulmonary blastoma
RS1032240985 NEB Health Risk Pathogenic/Likely pathogenic Nemaline myopathy 2, Arthrogryposis multiplex congenita 6
RS1032242817 DHCR7 Health Risk Likely pathogenic Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
RS1032255653 INF2 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E
RS1032256376 FLNB Health Risk Conflicting classifications of pathogenicity —
RS1032267288 GATM Health Risk Pathogenic Arginine:glycine amidinotransferase deficiency, Arginine:glycine amidinotransferase deficiency
RS1032290659 LRBA Health Risk Pathogenic Combined immunodeficiency due to LRBA deficiency, Combined immunodeficiency due to LRBA deficiency
RS1032311596 POLE Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS1032313424 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS1032335328 COL7A1 Health Risk Pathogenic/Likely pathogenic Epidermolysis bullosa dystrophica, Recessive dystrophic epidermolysis bullosa
RS1032352955 GDI1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1032357917 TPM1 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 3, Dilated cardiomyopathy 1Y
RS1032439203 POMT1 Health Risk Pathogenic/Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
RS1032475686 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS1032510984 RB1 Health Risk Conflicting classifications of pathogenicity Retinoblastoma, Hereditary cancer-predisposing syndrome
RS1032545459 KDM6A Health Risk Conflicting classifications of pathogenicity Kabuki syndrome 2, Kabuki syndrome 2
RS1032556769 AHDC1 Health Risk Conflicting classifications of pathogenicity AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome, AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
RS1032570128 HPS3 Health Risk Pathogenic/Likely pathogenic Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3
RS1032588483 CACNA1A Health Risk Conflicting classifications of pathogenicity Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS1032603937 PLCG2 Health Risk Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 3, PLCG2-related disorder
RS1032626668 RDH12 Health Risk Likely pathogenic Leber congenital amaurosis 13, Leber congenital amaurosis 13
RS1032630286 CLIC2 Health Risk Conflicting classifications of pathogenicity —
RS1032633248 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1032638497 DNAH8 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1032646332 XPC Health Risk Pathogenic/Likely pathogenic Xeroderma pigmentosum, group C
RS1032667950 RNU4ATAC Health Risk Likely pathogenic Roifman syndrome, Lowry-Wood syndrome
RS1032679807 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS1032758072 MITF Health Risk Conflicting classifications of pathogenicity Waardenburg syndrome type 2A, Tietz syndrome
RS1032781250 PLOD1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, kyphoscoliotic type 1
RS1032783973 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiovascular phenotype
RS1032784747 MSH6 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS1032786897 DCTN1 Health Risk Conflicting classifications of pathogenicity Neuronopathy, distal hereditary motor
RS1032796987 SBF2 Health Risk Pathogenic Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4
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