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
RS146696590 GRXCR1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 25, GRXCR1-related disorder
RS146696748 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
RS146698907 TCTN2 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 24, Meckel syndrome
RS1467000353 ABCA4 Health Risk Pathogenic Severe early-childhood-onset retinal dystrophy, Retinal dystrophy
RS146700420 COL9A1 Health Risk Conflicting classifications of pathogenicity COL9A1-related disorder, COL9A1-related disorder
RS146701040 RTN4 Health Risk Conflicting classifications of pathogenicity —
RS146701338 CATSPER2 Health Risk Conflicting classifications of pathogenicity Infertility disorder, Infertility disorder
RS1467015377 BAP1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS146701946 FKBP10 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type 11, FKBP10-related disorder
RS146702130 NIPBL Health Risk Conflicting classifications of pathogenicity NIPBL-related disorder, Cornelia de Lange syndrome 1
RS146702736 TMEM132E Health Risk Conflicting classifications of pathogenicity —
RS1467028739 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, CHARGE syndrome
RS146702874 ARHGEF18 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Inborn genetic diseases
RS146702985 SPRED1 Health Risk Conflicting classifications of pathogenicity Legius syndrome, Noonan syndrome and Noonan-related syndrome
RS146703538 PRPH2 Health Risk Conflicting classifications of pathogenicity PRPH2-related disorder, Adult-onset foveomacular vitelliform dystrophy
RS146704559 LINS1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS146705789 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS146705974 CBL Health Risk Conflicting classifications of pathogenicity CBL-related disorder, RASopathy
RS146706542 AUTS2 Health Risk Conflicting classifications of pathogenicity AUTS2-related disorder, Inborn genetic diseases
RS146706631 DHDDS Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS1467071163 ITGA2B Health Risk Likely pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS1467075214 JAK3 Health Risk Pathogenic/Likely pathogenic T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency
RS1467076006 LAMA2 Health Risk Pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS146707871 SH3TC2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Inborn genetic diseases
RS146708702 PKLR Health Risk Conflicting classifications of pathogenicity Pyruvate kinase deficiency of red cells, PKLR-related disorder
RS146709578 RECQL4 Health Risk Conflicting classifications of pathogenicity Baller-Gerold syndrome, Hereditary cancer-predisposing syndrome
RS146711260 FYCO1 Health Risk Conflicting classifications of pathogenicity Cataract 18, FYCO1-related disorder
RS146711478 EHMT1 Health Risk Conflicting classifications of pathogenicity Kleefstra syndrome 1, Intellectual disability
RS146711942 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Facial dysmorphism-immunodeficiency-livedo-short stature syndrome
RS146712579 CTCF Health Risk Conflicting classifications of pathogenicity CTCF-related neurodevelopmental disorder, CTCF-related neurodevelopmental disorder
RS146714674 MASP1 Health Risk Conflicting classifications of pathogenicity 3MC syndrome 1, 3MC syndrome 1
RS146714879 NIPBL Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Cornelia de Lange syndrome 1
RS146715054 RBP3 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS146715494 NUP62 Health Risk Conflicting classifications of pathogenicity —
RS1467160997 LOXHD1 Health Risk Pathogenic —
RS146716315 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS146716803 MYO16 Health Risk Conflicting classifications of pathogenicity MYO16-related disorder, MYO16-related disorder
RS146717589 TRNT1 Health Risk Conflicting classifications of pathogenicity Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome, Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
RS146717642 PCNT Health Risk Conflicting classifications of pathogenicity Microcephalic osteodysplastic primordial dwarfism type II, PCNT-related disorder
RS1467180870 TSPEAR Health Risk Pathogenic Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis
RS146718433 ABCC2 Health Risk Conflicting classifications of pathogenicity —
RS146718482 TIMM22 Health Risk Conflicting classifications of pathogenicity —
RS146718571 CREBBP Health Risk Pathogenic/Likely pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations, Menke-Hennekam syndrome 1
RS1467193033 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome
RS1467194438 PKHD1 Health Risk Likely pathogenic Polycystic kidney disease 4, Polycystic kidney disease 4
RS1467195179 HLCS Health Risk Likely pathogenic Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
RS1467203496 DNM1L Health Risk Pathogenic —
RS1467207143 ALMS1 Health Risk Pathogenic/Likely pathogenic Alstrom syndrome, Alstrom syndrome
RS146720775 SLC7A7 Health Risk Conflicting classifications of pathogenicity Lysinuric protein intolerance, Autoinflammatory syndrome
RS146722795 SACS Health Risk Conflicting classifications of pathogenicity Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS146722878 SOS1 Health Risk Conflicting classifications of pathogenicity Noonan syndrome 4, RASopathy
RS146723808 BLM Health Risk Conflicting classifications of pathogenicity Bloom syndrome, Hereditary cancer-predisposing syndrome
RS146724193 KCNK4 Health Risk Conflicting classifications of pathogenicity —
RS146725009 PCDH12 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS146725018 GFAP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Alexander disease
RS146725281 DNAAF1 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1467255409 ATAD3A Health Risk Likely pathogenic —
RS146725576 MMP2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS146725782 ADCY10 Health Risk Pathogenic —
RS1467265277 MYL2 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 10, Hypertrophic cardiomyopathy
RS146726548 SLC24A5 Health Risk Conflicting classifications of pathogenicity —
RS146726731 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Acromicric dysplasia
RS1467275471 CTF1 Health Risk Conflicting classifications of pathogenicity —
RS146728175 TGM1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive congenital ichthyosis 1, Inborn genetic diseases
RS146728528 EEF1A2 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 33
RS146729456 EVC Health Risk Conflicting classifications of pathogenicity Ellis-van Creveld syndrome, Curry-Hall syndrome
RS146729537 VWF Health Risk Conflicting classifications of pathogenicity Uterine corpus endometrial carcinoma, Uterine corpus endometrial carcinoma
RS1467298230 C7 Health Risk Pathogenic Complement component 7 deficiency, Complement component 7 deficiency
RS146729850 MGAT2 Health Risk Conflicting classifications of pathogenicity MGAT2-congenital disorder of glycosylation, MGAT2-related disorder
RS1467301649 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS146730713 CUBN Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Imerslund-Grasbeck syndrome type 1
RS1467311353 DSC2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 11
RS146731467 BCS1L Health Risk Conflicting classifications of pathogenicity Leigh syndrome, GRACILE syndrome
RS146732064 HADH Health Risk Conflicting classifications of pathogenicity Abnormal brain morphology, Abnormal brain morphology
RS1467320686 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS146733308 SCN1A Health Risk Conflicting classifications of pathogenicity Migraine, familial hemiplegic
RS146733615 USH2A Health Risk Pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39
RS146734084 TSC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS1467346010 DHCR7 Health Risk Likely pathogenic Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
RS146735953 BLM Health Risk Conflicting classifications of pathogenicity Bloom syndrome, Hereditary cancer-predisposing syndrome
RS146736925 CDK5RAP2 Health Risk Conflicting classifications of pathogenicity CDK5RAP2-related disorder, CDK5RAP2-related disorder
RS146737847 SIX6 Health Risk Conflicting classifications of pathogenicity Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome, Anophthalmia/microphthalmia-esophageal atresia syndrome
RS146738314 TSHR Health Risk Conflicting classifications of pathogenicity Familial hyperthyroidism due to mutations in TSH receptor, Hypothyroidism due to TSH receptor mutations
RS146738494 CABP4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1467385866 MMUT Health Risk Conflicting classifications of pathogenicity —
RS146738622 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1467389704 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
RS146739019 EVC Health Risk Conflicting classifications of pathogenicity Ellis-van Creveld syndrome, Curry-Hall syndrome
RS1467391590 TGFB2 Health Risk Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS146739496 LOXHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 77, Autosomal recessive nonsyndromic hearing loss 77
RS146739519 FH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fumarase deficiency
RS146742224 CASQ1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS146742517 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS146742525 F2 Health Risk Conflicting classifications of pathogenicity Congenital prothrombin deficiency, Inborn genetic diseases
RS146742726 TECTA Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 12, Autosomal recessive nonsyndromic hearing loss 21
RS1467430023 STXBP2 Health Risk Pathogenic Familial hemophagocytic lymphohistiocytosis, Familial hemophagocytic lymphohistiocytosis
RS146743254 POLA1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS146744494 RREB1 Health Risk Conflicting classifications of pathogenicity See cases, See cases
RS146744659 MCPH1 Health Risk Conflicting classifications of pathogenicity Microcephaly 1, primary
RS146744662 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome
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