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
RS765817045 CARMIL2 Health Risk Likely pathogenic Severe combined immunodeficiency due to CARMIL2 deficiency, Severe combined immunodeficiency due to CARMIL2 deficiency
RS765818027 SCN9A Health Risk Conflicting classifications of pathogenicity Paroxysmal extreme pain disorder, Channelopathy-associated congenital insensitivity to pain
RS765818392 ATP1A2 Health Risk Conflicting classifications of pathogenicity Familial hemiplegic migraine, Familial hemiplegic migraine
RS765818462 RNASEH2A Health Risk Conflicting classifications of pathogenicity Aicardi-Goutieres syndrome 4, Aicardi-Goutieres syndrome 4
RS765819602 EPHB4 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS765820020 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS765820404 TULP1 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS765820512 CC2D2A Health Risk Conflicting classifications of pathogenicity Joubert syndrome 9, Meckel syndrome
RS765822469 CFAP65 Health Risk Likely pathogenic CFAP65-related disorder, CFAP65-related disorder
RS765822790 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS765824628 TMCO1 Health Risk Pathogenic Craniofacial dysmorphism, skeletal anomalies
RS765824772 SLCO2A1 Health Risk Pathogenic Hypertrophic osteoarthropathy, primary
RS765825369 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Inborn genetic diseases
RS765825423 ERCC6 Health Risk Pathogenic/Likely pathogenic Cockayne syndrome type 2, Cerebrooculofacioskeletal syndrome 1
RS765825619 PIEZO1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, PIEZO1-related disorder
RS765825621 IL12RB1 Health Risk Pathogenic Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency, Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
RS765825660 NPC1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type C1
RS765826390 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS765826619 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS765827406 PHIP Health Risk Conflicting classifications of pathogenicity PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome, PHIP-related disorder
RS765827471 DNAAF6 Health Risk Conflicting classifications of pathogenicity Ciliary dyskinesia, primary
RS765827814 TTN Health Risk Conflicting classifications of pathogenicity Early-onset myopathy with fatal cardiomyopathy, Tibial muscular dystrophy
RS765828196 SLC3A1 Health Risk Pathogenic/Likely pathogenic Cystinuria, Cystinuria
RS765828645 SMARCA4 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Rhabdoid tumor predisposition syndrome 2
RS765829996 EPB42 Health Risk Pathogenic —
RS765830662 MYO1A Health Risk Conflicting classifications of pathogenicity —
RS765830728 TNFRSF11A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS765831604 DSP Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiovascular phenotype
RS765831882 ZMYM2 Health Risk Likely pathogenic Neurodevelopmental abnormality, Seizure
RS765833827 TCF4 Health Risk Conflicting classifications of pathogenicity Pitt-Hopkins syndrome, Pitt-Hopkins syndrome
RS765834734 LRPPRC Health Risk Likely pathogenic Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
RS765835040 EFTUD2 Health Risk Pathogenic —
RS765835593 SCNN1A Health Risk Pathogenic Pseudohypoaldosteronism, type IB1
RS765835831 LAMC3 Health Risk Likely pathogenic —
RS76583617 DGKZ Health Risk Conflicting classifications of pathogenicity atypical cerebral palsy, atypical cerebral palsy
RS765837100 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS765837163 DSP Health Risk Pathogenic Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS765838575 DRP2 Health Risk Conflicting classifications of pathogenicity —
RS765839151 FBN1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Acromicric dysplasia
RS765839225 LRRCC1 Health Risk Conflicting classifications of pathogenicity —
RS765839296 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS765839822 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS765840374 FANCD2 Health Risk Likely pathogenic Fanconi anemia complementation group D2, Fanconi anemia complementation group D2
RS765841849 SPRED1 Health Risk Conflicting classifications of pathogenicity Legius syndrome, Cardiovascular phenotype
RS765842157 SEC23B Health Risk Conflicting classifications of pathogenicity Cowden syndrome 7, Congenital dyserythropoietic anemia
RS765842423 FBN1 Health Risk Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS765844768 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS765845684 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome
RS765846480 P3H1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type 8, Osteogenesis imperfecta type 8
RS765846519 ABCA3 Health Risk Likely pathogenic —
RS765846783 CYP27B1 Health Risk Pathogenic —
RS765847597 ABCG5 Health Risk Conflicting classifications of pathogenicity Sitosterolemia, Cardiovascular phenotype
RS765847854 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS765848129 SZT2 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 18
RS765848205 TP53 Health Risk Pathogenic/Likely pathogenic Li-Fraumeni syndrome, Acute myeloid leukemia
RS765848298 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS765848319 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS765848794 APOB Health Risk Conflicting classifications of pathogenicity Familial hypobetalipoproteinemia 1, Hypercholesterolemia
RS765848904 MC1R Health Risk Conflicting classifications of pathogenicity Melanoma, cutaneous malignant
RS765849160 FGFR3 Health Risk Conflicting classifications of pathogenicity —
RS765849229 ADGRV1 Health Risk Pathogenic/Likely pathogenic —
RS765849667 PHKB Health Risk Pathogenic Glycogen storage disease IXb, Glycogen storage disease IXb
RS765850087 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS765852160 PKP2 Health Risk Likely pathogenic Cardiomyopathy, Cardiomyopathy
RS765852473 DVL3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS765852654 ATP6AP2 Health Risk Conflicting classifications of pathogenicity Syndromic X-linked intellectual disability Hedera type, Inborn genetic diseases
RS765852996 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Dilated cardiomyopathy 1G
RS765853714 ITPR1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant cerebellar ataxia, Autosomal dominant cerebellar ataxia
RS765854160 NOS3 Health Risk Likely pathogenic Premature ovarian failure, Premature ovarian failure
RS765855138 COL2A1 Health Risk Conflicting classifications of pathogenicity —
RS765856240 GFPT1 Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 12, Congenital myasthenic syndrome 12
RS765856970 POLH Health Risk Conflicting classifications of pathogenicity Xeroderma pigmentosum variant type, Xeroderma pigmentosum variant type
RS765859233 SUOX Health Risk Conflicting classifications of pathogenicity Sulfite oxidase deficiency, Sulfite oxidase deficiency
RS765859367 ALS2 Health Risk Conflicting classifications of pathogenicity ALS2-related disorder, Amyotrophic lateral sclerosis type 2
RS765859566 COQ8A Health Risk Conflicting classifications of pathogenicity See cases, See cases
RS765860589 ABCB11 Health Risk Likely pathogenic Progressive familial intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2
RS765860776 PRKN Health Risk Pathogenic —
RS765863571 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, KMT2D-related disorder
RS765863580 HNMT Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal recessive 51
RS765864199 SGCA Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2D, Autosomal recessive limb-girdle muscular dystrophy type 2D
RS765865300 TNXB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, TNXB-related disorder
RS765865910 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS765866000 COL4A4 Health Risk Likely pathogenic Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome
RS765866533 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Arthrogryposis multiplex congenita 6
RS765866760 CNGB3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS765867245 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, FBN2-related disorder
RS765867575 PPA2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS765867621 ALPK1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS765868304 CHRNG Health Risk Pathogenic —
RS765870874 CUL7 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS765870974 BIN1 Health Risk Conflicting classifications of pathogenicity Myopathy, centronuclear
RS765871501 POLR1A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS765871629 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS765872761 PEX16 Health Risk Pathogenic Peroxisome biogenesis disorder, Peroxisome biogenesis disorder
RS765872780 ARSB Health Risk Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS765873247 CC2D2A Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Meckel-Gruber syndrome
RS765873407 SMARCA4 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Rhabdoid tumor predisposition syndrome 2
RS765873566 MSH6 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS765874018 TECPR2 Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia 49, Hereditary spastic paraplegia 49
RS765874179 SRCAP Health Risk Conflicting classifications of pathogenicity Multiple congenital anomalies/dysmorphic syndrome, Multiple congenital anomalies/dysmorphic syndrome
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