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
RS777697545 HSD17B3 Health Risk Pathogenic Testosterone 17-beta-dehydrogenase deficiency, Testosterone 17-beta-dehydrogenase deficiency
RS777697766 NAGS Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Hyperammonemia
RS777698828 TSHR Health Risk Conflicting classifications of pathogenicity Familial hyperthyroidism due to mutations in TSH receptor, Hypothyroidism due to TSH receptor mutations
RS777699064 AXIN2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Oligodontia-cancer predisposition syndrome
RS777700920 FMO3 Health Risk Pathogenic/Likely pathogenic Trimethylaminuria, Trimethylaminuria
RS777701033 MYH9 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 17, Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
RS777701149 ANK1 Health Risk Pathogenic Hereditary spherocytosis type 1, Hereditary spherocytosis type 1
RS777701226 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS777701725 USH2A Health Risk Likely pathogenic Usher syndrome type 2, Usher syndrome type 2
RS777702465 TNNI3 Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Hypertrophic cardiomyopathy
RS777703505 LRP2 Health Risk Conflicting classifications of pathogenicity Donnai-Barrow syndrome, Donnai-Barrow syndrome
RS777704329 TECTA Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 12, Autosomal recessive nonsyndromic hearing loss 21
RS777705500 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS777706370 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Alstrom syndrome
RS777707753 BBS7 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome 7
RS777707946 GREB1L Health Risk Likely pathogenic; association Renal agenesis and hypodysplasia, Renal hypodysplasia/aplasia 3
RS777708173 KMT2B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS777709144 ILDR1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 42, Autosomal recessive nonsyndromic hearing loss 42
RS777711528 SRD5A2 Health Risk Pathogenic 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency, 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
RS777711720 AAAS Health Risk Likely pathogenic Microcephaly, Abnormality of the nervous system
RS777713989 LAMA3 Health Risk Pathogenic Junctional epidermolysis bullosa, Epidermolysis bullosa
RS777714363 PHKB Health Risk Likely pathogenic Glycogen storage disease IXb, Glycogen storage disease IXb
RS777714867 F11 Health Risk Pathogenic/Likely pathogenic Hereditary factor XI deficiency disease, Hereditary factor XI deficiency disease
RS777716061 RET Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia
RS777716188 LDLR Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS777716327 ATP1A2 Health Risk Conflicting classifications of pathogenicity Familial hemiplegic migraine, Familial hemiplegic migraine
RS777717614 PCARE Health Risk Pathogenic —
RS777718986 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS777719396 ALG12 Health Risk Conflicting classifications of pathogenicity ALG12-congenital disorder of glycosylation, ALG12-congenital disorder of glycosylation
RS777719596 FANCD2 Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia
RS777720209 HSF4 Health Risk Conflicting classifications of pathogenicity Cataract 5 multiple types, Inborn genetic diseases
RS777721300 P3H2 Health Risk Pathogenic —
RS777722490 MED13L Health Risk Conflicting classifications of pathogenicity Dextro-looped transposition of the great arteries, Inborn genetic diseases
RS777723411 INVS Health Risk Pathogenic/Likely pathogenic Nephronophthisis, Infantile nephronophthisis
RS777725264 MTFMT Health Risk Pathogenic Combined oxidative phosphorylation defect type 15, Combined oxidative phosphorylation defect type 15
RS777726601 ACAN Health Risk Pathogenic —
RS777726701 GATA2 Health Risk Conflicting classifications of pathogenicity Deafness-lymphedema-leukemia syndrome, Monocytopenia with susceptibility to infections
RS777728814 CRYAA Health Risk Conflicting classifications of pathogenicity Cataract 9 multiple types, Cataract 9 multiple types
RS777729620 AICDA Health Risk Pathogenic Hyper-IgM syndrome type 2, Hyper-IgM syndrome type 2
RS777730098 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS777730458 CTNNA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma
RS777730788 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS777731495 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS777732637 KMT2B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS777733574 PEX5 Health Risk Pathogenic Peroxisome biogenesis disorder 2B, PEX5-related disorder
RS777733662 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Inborn genetic diseases
RS777733968 USH2A Health Risk Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS777735154 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS777735499 PEX5 Health Risk Pathogenic Peroxisome biogenesis disorder 2B, Peroxisome biogenesis disorder 2A (Zellweger)
RS777735514 MBD5 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 1
RS777735526 BCS1L Health Risk Pathogenic/Likely pathogenic GRACILE syndrome, Pili torti-deafness syndrome
RS777735735 EYS Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa 25
RS777736127 RYR2 Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1
RS777736953 AHDC1 Health Risk Pathogenic/Likely pathogenic Abdominal obesity-metabolic syndrome 3, AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
RS777737385 SOX10 Health Risk Conflicting classifications of pathogenicity SOX10-related disorder, Melanoma
RS777737447 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS777740338 NHEJ1 Health Risk Pathogenic Cernunnos-XLF deficiency, Cernunnos-XLF deficiency
RS777740921 STAC3 Health Risk Likely pathogenic Congenital myopathy, Congenital myopathy
RS777741543 BRIP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS777741666 ATM Health Risk Likely pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS777742373 LAMB2 Health Risk Pathogenic/Likely pathogenic LAMB2-related infantile-onset nephrotic syndrome, Pierson syndrome
RS777742703 ASXL3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS777743197 IL12RB1 Health Risk Conflicting classifications of pathogenicity Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency, Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
RS777744183 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Hypogonadotropic hypogonadism 5 with or without anosmia
RS777744269 SRCAP Health Risk Conflicting classifications of pathogenicity Floating-Harbor syndrome, Developmental delay
RS777744290 ACTN2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Dilated cardiomyopathy 1AA
RS777746298 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS777746839 EHMT1 Health Risk Conflicting classifications of pathogenicity Kleefstra syndrome 1, Kleefstra syndrome 1
RS777747160 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, ZNF469-related disorder
RS777747436 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Charcot-Marie-Tooth disease axonal type 2O
RS777748046 ITGB3 Health Risk Likely pathogenic Abnormal bleeding, Thrombocytopenia
RS777748323 CRYGC Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS777751073 KIF1A Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory
RS777751303 NOTCH3 Health Risk Pathogenic/Likely pathogenic Cerebral arteriopathy, autosomal dominant
RS777751790 COL5A2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS777752091 MPDZ Health Risk Conflicting classifications of pathogenicity Congenital hydrocephalus, Hydrocephalus
RS777752487 HMCN1 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 1, Age related macular degeneration 1
RS777752849 BAG3 Health Risk Conflicting classifications of pathogenicity Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH
RS777752945 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS777752978 SIL1 Health Risk Pathogenic Marinesco-Sjögren syndrome, Marinesco-Sjögren syndrome
RS777753707 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Charlevoix-Saguenay spastic ataxia
RS777753722 CNGA3 Health Risk Pathogenic —
RS777753993 CHD7 Health Risk Conflicting classifications of pathogenicity Hypogonadotropic hypogonadism 5 with or without anosmia, CHARGE syndrome
RS777754372 LAMA5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS777755589 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS777755997 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS777756488 ACAD8 Health Risk Pathogenic —
RS777757937 ITK Health Risk Conflicting classifications of pathogenicity Lymphoproliferative syndrome 1, Inborn genetic diseases
RS777758903 MMUT Health Risk Pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic acidemia
RS777759192 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS777759523 UNC13D Health Risk Pathogenic Familial hemophagocytic lymphohistiocytosis 3, Autoinflammatory syndrome
RS777759972 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS777762276 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS777762320 ARID1A Health Risk Conflicting classifications of pathogenicity —
RS777763120 SYNGAP1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 5
RS777763456 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS777764214 NSD1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS777764528 EPB42 Health Risk Likely pathogenic Hereditary spherocytosis type 5, Hereditary spherocytosis type 5
RS777765120 BBS1 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome, BBS1-related disorder
RS777765506 DNAH1 Health Risk Pathogenic Spermatogenic failure 18, Ciliary dyskinesia
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