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
RS183468041 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, APC-Associated Polyposis Disorders
RS1834683448 FOCAD Health Risk Likely pathogenic Liver disease, severe congenital
RS1834684241 COL18A1 Health Risk Pathogenic —
RS183470913 OTOG Health Risk Conflicting classifications of pathogenicity OTOG-related disorder, OTOG-related disorder
RS183472455 SMAD4 Health Risk Conflicting classifications of pathogenicity Generalized juvenile polyposis/juvenile polyposis coli, Myhre syndrome
RS1834728173 DCLRE1C Health Risk Conflicting classifications of pathogenicity Histiocytic medullary reticulosis, Severe combined immunodeficiency due to DCLRE1C deficiency
RS183473284 CARD8 Health Risk Conflicting classifications of pathogenicity —
RS183474263 CFH Health Risk Conflicting classifications of pathogenicity Hemolytic uremic syndrome, atypical
RS1834751333 COL5A1 Health Risk Pathogenic Ehlers-Danlos syndrome, classic type
RS183475426 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS183475885 COL27A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS183475941 DPYD Health Risk Conflicting classifications of pathogenicity Dihydropyrimidine dehydrogenase deficiency, DPYD-related disorder
RS1834759683 DCLRE1C Health Risk Pathogenic/Likely pathogenic Severe combined immunodeficiency due to DCLRE1C deficiency, Severe combined immunodeficiency due to DCLRE1C deficiency
RS1834776385 DCLRE1C Health Risk Pathogenic Severe combined immunodeficiency due to DCLRE1C deficiency, Athabaskan severe combined immunodeficiency
RS183478189 EPG5 Health Risk Pathogenic/Likely pathogenic Vici syndrome, Inborn genetic diseases
RS1834782818 TPRN Health Risk Likely pathogenic Rare genetic deafness, Rare genetic deafness
RS183478654 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS1834792032 DNM1 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 31A
RS183480366 DCDC2 Health Risk Conflicting classifications of pathogenicity Nephronophthisis 19, Isolated neonatal sclerosing cholangitis
RS183482849 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1834832160 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS183483408 FBXO38 Health Risk Conflicting classifications of pathogenicity Distal hereditary motor neuropathy type 2, Distal hereditary motor neuropathy type 2
RS1834837756 COL5A1 Health Risk Pathogenic Ehlers-Danlos syndrome, classic type
RS183487020 OCA2 Health Risk Conflicting classifications of pathogenicity Tyrosinase-positive oculocutaneous albinism, SKIN/HAIR/EYE PIGMENTATION 1
RS1834879370 COL5A1 Health Risk Pathogenic Ehlers-Danlos syndrome, classic type
RS183489578 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS183489969 PALB2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS183490100 POLR1A Health Risk Conflicting classifications of pathogenicity POLR1A-related disorder, Inborn genetic diseases
RS1834915615 PDSS1 Health Risk Conflicting classifications of pathogenicity Deafness-encephaloneuropathy-obesity-valvulopathy syndrome, Deafness-encephaloneuropathy-obesity-valvulopathy syndrome
RS1834935337 RAB18 Health Risk Likely pathogenic —
RS183494886 DSG2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiomyopathy
RS183495554 COL5A1 Health Risk Pathogenic Ehlers-Danlos syndrome, classic type
RS183497403 SRCAP Health Risk Conflicting classifications of pathogenicity Floating-Harbor syndrome, Developmental delay
RS183499397 TTN Health Risk Conflicting classifications of pathogenicity Myopathy, myofibrillar
RS183499982 KLHL3 Health Risk Conflicting classifications of pathogenicity Pseudohypoaldosteronism type 2D, Pseudohypoaldosteronism type 2D
RS1835011473 LRSAM1 Health Risk Likely pathogenic —
RS183501729 SLCO1B1 Health Risk Pathogenic Rotor syndrome, Rotor syndrome
RS1835030174 WHRN Health Risk Pathogenic —
RS1835085404 DNM1 Health Risk Likely pathogenic —
RS1835085971 DNM1 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 31A
RS1835087040 DNM1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 31A
RS1835102166 DNM1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 31A
RS1835103161 DNM1 Health Risk Likely pathogenic —
RS1835120360 SLC39A14 Health Risk Pathogenic —
RS183514608 KCNJ2 Health Risk Conflicting classifications of pathogenicity Short QT syndrome type 3, Atrial fibrillation
RS1835152848 PDSS1 Health Risk Likely pathogenic Deafness-encephaloneuropathy-obesity-valvulopathy syndrome, Deafness-encephaloneuropathy-obesity-valvulopathy syndrome
RS183517027 NTRK1 Health Risk Conflicting classifications of pathogenicity Hereditary insensitivity to pain with anhidrosis, Hereditary insensitivity to pain with anhidrosis
RS1835194794 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS1835194865 COL5A1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, classic type
RS1835212470 TMEM38B Health Risk Pathogenic —
RS183521702 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, DNAH11-related disorder
RS1835253194 NCAPG2 Health Risk Likely pathogenic Khan-Khan-Katsanis syndrome, Khan-Khan-Katsanis syndrome
RS1835285052 LMX1B Health Risk Pathogenic LMX1B-related disorder, LMX1B-related disorder
RS1835285480 LMX1B Health Risk Pathogenic LMX1B-related disorder, LMX1B-related disorder
RS1835285672 LMX1B Health Risk Pathogenic —
RS1835286357 LMX1B Health Risk Pathogenic —
RS1835287345 LMX1B Health Risk Pathogenic —
RS1835287406 LMX1B Health Risk Pathogenic Nail-patella-like renal disease, Nail-patella syndrome
RS1835287461 LMX1B Health Risk Pathogenic LMX1B-related disorder, LMX1B-related disorder
RS183531576 SH3TC2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4C, Susceptibility to mononeuropathy of the median nerve
RS183531638 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS183531840 LOXHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 77, Autosomal recessive nonsyndromic hearing loss 77
RS183533911 SFTPC Health Risk Conflicting classifications of pathogenicity Interstitial lung disease 2, Surfactant metabolism dysfunction
RS183536545 PCARE Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS1835450838 COL27A1 Health Risk Pathogenic/Likely pathogenic Steel syndrome, Steel syndrome
RS1835459356 CAMSAP1 Health Risk Likely pathogenic CAMSAP1-related neuronal migration disorder, Cortical dysplasia
RS183545975 BRAT1 Health Risk Conflicting classifications of pathogenicity Neonatal-onset encephalopathy with rigidity and seizures, Inborn genetic diseases
RS1835460763 OPLAH Health Risk Pathogenic 5-Oxoprolinase deficiency, 5-Oxoprolinase deficiency
RS1835470775 LRSAM1 Health Risk Likely pathogenic Charcot-Marie-Tooth disease axonal type 2P, Charcot-Marie-Tooth disease axonal type 2P
RS1835471115 LRSAM1 Health Risk Pathogenic Charcot-Marie-Tooth disease axonal type 2P, Charcot-Marie-Tooth disease axonal type 2P
RS1835476174 LRSAM1 Health Risk Likely pathogenic Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease
RS1835477286 PHYH Health Risk Pathogenic —
RS1835478520 OPLAH Health Risk Pathogenic 5-Oxoprolinase deficiency, 5-Oxoprolinase deficiency
RS183551699 SPEG Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS183552168 LMF1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Lipase deficiency
RS1835535749 CAMSAP1 Health Risk Likely pathogenic CAMSAP1-related neuronal migration disorder, Cortical dysplasia
RS183554824 VPS35 Health Risk Conflicting classifications of pathogenicity Parkinson disease 17, Parkinson disease 17
RS183556625 SHANK2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS183557525 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1835577032 BBS10 Health Risk Likely pathogenic Bardet-Biedl syndrome 10, Bardet-Biedl syndrome 10
RS1835598414 OPLAH Health Risk Pathogenic 5-Oxoprolinase deficiency, 5-Oxoprolinase deficiency
RS183560588 FREM2 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 2, FREM2-related disorder
RS1835606884 PHYH Health Risk Pathogenic/Likely pathogenic Phytanic acid storage disease, Phytanic acid storage disease
RS1835617888 PHYH Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS1835618953 PHYH Health Risk Likely pathogenic Phytanic acid storage disease, Phytanic acid storage disease
RS183563055 COL4A1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome, Brain small vessel disease 1 with or without ocular anomalies
RS183564323 P3H1 Health Risk Conflicting classifications of pathogenicity Osteogenesis Imperfecta, Recessive
RS183565971 ATRIP Health Risk Conflicting classifications of pathogenicity —
RS183570870 LRP2 Health Risk Conflicting classifications of pathogenicity Donnai-Barrow syndrome, Inborn genetic diseases
RS1835721943 PHYH Health Risk Likely pathogenic Phytanic acid storage disease, Phytanic acid storage disease
RS183572308 XDH Health Risk Conflicting classifications of pathogenicity Hereditary xanthinuria type 1, Xanthinuria type II
RS1835731335 INPP5E Health Risk Likely pathogenic Joubert syndrome, Joubert syndrome
RS183573304 GARS1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS1835733198 INPP5E Health Risk Likely pathogenic Joubert syndrome, Joubert syndrome
RS1835738568 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS183575246 TSFM Health Risk Conflicting classifications of pathogenicity Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3, TSFM-related disorder
RS1835753446 COL5A1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, classic type
RS1835755632 INPP5E Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Joubert syndrome 1
RS1835789883 PHYH Health Risk Likely pathogenic Phytanic acid storage disease, Phytanic acid storage disease
RS1835857188 DNM1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 31A
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