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
RS183894680 ANK1 Health Risk Conflicting classifications of pathogenicity SPHEROCYTOSIS, TYPE 1
RS1838970198 ABCA1 Health Risk Likely pathogenic —
RS183898615 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS1838987290 ADAM22 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 61
RS183899632 CPA6 Health Risk Conflicting classifications of pathogenicity Febrile seizures, familial
RS183906248 TRPM1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1839084095 COL5A1 Health Risk Pathogenic Ehlers-Danlos syndrome, classic type
RS1839084305 COL5A1 Health Risk Pathogenic —
RS1839104595 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS1839105353 PTCH1 Health Risk Pathogenic —
RS1839107392 PTCH1 Health Risk Likely pathogenic Gorlin syndrome, Gorlin syndrome
RS1839113498 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS1839114207 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS1839115028 PTCH1 Health Risk Pathogenic Gorlin syndrome, Neoplasm
RS183911558 SETD5 Health Risk Conflicting classifications of pathogenicity Moyamoya angiopathy with developmental delay, Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
RS1839148591 TG Health Risk Pathogenic —
RS1839191116 COL5A1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, classic type
RS183920365 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS183921218 ARID1B Health Risk Conflicting classifications of pathogenicity Coffin-Siris syndrome 1, Coffin-Siris syndrome 1
RS183921963 ABCC8 Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young, Transitory neonatal diabetes mellitus
RS183923129 TTN Health Risk Conflicting classifications of pathogenicity Early-onset myopathy with fatal cardiomyopathy, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1839233961 NEUROG3 Health Risk Pathogenic —
RS183923599 ABCC2 Health Risk Pathogenic —
RS183924183 COL18A1 Health Risk Conflicting classifications of pathogenicity Knobloch syndrome, Knobloch syndrome
RS1839245948 COL5A1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, classic type
RS1839255008 DCLRE1C Health Risk Likely pathogenic Severe combined immunodeficiency due to DCLRE1C deficiency, Severe combined immunodeficiency due to DCLRE1C deficiency
RS1839273008 PTCH1 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1839298779 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS1839301103 PTCH1 Health Risk Likely pathogenic Gorlin syndrome, Gorlin syndrome
RS183933829 RYR2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 2, Catecholaminergic polymorphic ventricular tachycardia 1
RS183935795 NPC1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type C1
RS183936286 AHI1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Joubert syndrome 3
RS183939928 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS183939957 RB1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Retinoblastoma
RS1839400126 TCIRG1 Health Risk Pathogenic —
RS1839416809 ARFGEF1 Health Risk Pathogenic Delayed speech and language development, Global developmental delay
RS183942200 FLG Health Risk Pathogenic/Likely pathogenic Ichthyosis vulgaris, Dermatitis
RS1839422034 CDH23 Health Risk Conflicting classifications of pathogenicity —
RS1839470192 TG Health Risk Pathogenic —
RS183949390 FMO3 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS183950016 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS183950022 TXNRD2 Health Risk Conflicting classifications of pathogenicity Glucocorticoid deficiency 5, Primary dilated cardiomyopathy
RS1839516520 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS1839537297 COL5A1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, classic type
RS1839542247 COL5A1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, classic type
RS1839553121 MICU1 Health Risk Likely pathogenic —
RS1839558393 DCLRE1C Health Risk Pathogenic Severe combined immunodeficiency due to DCLRE1C deficiency, Severe combined immunodeficiency due to DCLRE1C deficiency
RS1839622622 DCLRE1C Health Risk Pathogenic Severe combined immunodeficiency due to DCLRE1C deficiency, Severe combined immunodeficiency due to DCLRE1C deficiency
RS1839625956 DCLRE1C Health Risk Likely pathogenic Severe combined immunodeficiency due to DCLRE1C deficiency, Histiocytic medullary reticulosis
RS183967792 LRP2 Health Risk Conflicting classifications of pathogenicity Donnai-Barrow syndrome, Donnai-Barrow syndrome
RS1839681191 CDH23 Health Risk Pathogenic —
RS183968785 CC2D2A Health Risk Conflicting classifications of pathogenicity Joubert syndrome 9, Meckel syndrome
RS183969516 MYO15A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 3, MYO15A-related disorder
RS1839717773 CDH23 Health Risk Likely pathogenic —
RS183973249 TMEM70 Health Risk Pathogenic/Likely pathogenic Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
RS183974372 JAG1 Health Risk Conflicting classifications of pathogenicity Isolated Nonsyndromic Congenital Heart Disease, Cardiovascular phenotype
RS1839745979 CDH23 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1, Usher syndrome type 1
RS1839755896 CHAT Health Risk Likely pathogenic Familial infantile myasthenia, Familial infantile myasthenia
RS1839765652 DCLRE1C Health Risk Likely pathogenic Severe combined immunodeficiency disease, Severe combined immunodeficiency due to DCLRE1C deficiency
RS1839803841 COL5A1 Health Risk Pathogenic Ehlers-Danlos syndrome, classic type
RS1839804099 CHAT Health Risk Likely pathogenic Familial infantile myasthenia, Familial infantile myasthenia
RS183981750 GALNT12 Health Risk Conflicting classifications of pathogenicity Familial colorectal cancer, GALNT12-related disorder
RS1839888192 ARFGEF1 Health Risk Pathogenic Delayed speech and language development, Atypical behavior
RS183988980 SLC39A14 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS183991942 MYO5B Health Risk Conflicting classifications of pathogenicity Congenital microvillous atrophy, Congenital microvillous atrophy
RS183994910 COL6A1 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A
RS1839956628 DCLRE1C Health Risk Pathogenic/Likely pathogenic Severe combined immunodeficiency disease, Severe combined immunodeficiency due to DCLRE1C deficiency
RS1839957089 DCLRE1C Health Risk Pathogenic Severe combined immunodeficiency due to DCLRE1C deficiency, Histiocytic medullary reticulosis
RS1839959715 VCL Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1W, Dilated cardiomyopathy 1W
RS1839989630 ODAD2 Health Risk Pathogenic Primary ciliary dyskinesia 23, Primary ciliary dyskinesia 23
RS1839995781 CHAT Health Risk Likely pathogenic Familial infantile myasthenia, Familial infantile myasthenia
RS1839996657 WAC Health Risk Pathogenic DeSanto-Shinawi syndrome due to WAC point mutation, DeSanto-Shinawi syndrome due to WAC point mutation
RS1840016313 ADAMTS13 Health Risk Pathogenic/Likely pathogenic —
RS1840019690 ADAMTS13 Health Risk Pathogenic Upshaw-Schulman syndrome, Upshaw-Schulman syndrome
RS1840027040 MICU1 Health Risk Pathogenic/Likely pathogenic Proximal myopathy with extrapyramidal signs, Proximal myopathy with extrapyramidal signs
RS1840040809 WAC Health Risk Pathogenic WAC-related neurodevelopmental disorder, DeSanto-Shinawi syndrome due to WAC point mutation
RS1840047074 CHST3 Health Risk Likely pathogenic —
RS1840050989 CHST3 Health Risk Pathogenic Spondyloepiphyseal dysplasia with congenital joint dislocations, Spondyloepiphyseal dysplasia with congenital joint dislocations
RS184006495 ANK1 Health Risk Conflicting classifications of pathogenicity Spherocytosis, Hereditary spherocytosis type 1
RS184006653 FLCN Health Risk Conflicting classifications of pathogenicity Birt-Hogg-Dube syndrome, Familial spontaneous pneumothorax
RS184006845 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS1840069879 CHST3 Health Risk Likely pathogenic Spondyloepiphyseal dysplasia with congenital joint dislocations, Spondyloepiphyseal dysplasia with congenital joint dislocations
RS1840077192 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS1840094606 PTCH1 Health Risk Pathogenic Basal cell carcinoma, susceptibility to
RS1840098608 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS1840101155 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS1840109796 PTCH1 Health Risk Pathogenic Gorlin syndrome, Basal cell nevus syndrome 1
RS1840113211 PTCH1 Health Risk Likely pathogenic Precocious puberty, Macrocephaly
RS1840114155 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS184018403 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiomyopathy
RS184018899 CEP290 Health Risk Conflicting classifications of pathogenicity Meckel-Gruber syndrome, Joubert syndrome
RS184021211 CYP4F22 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS184021903 SMARCB1 Health Risk Conflicting classifications of pathogenicity SMARCB1-related schwannomatosis, Rhabdoid tumor predisposition syndrome 1
RS1840249855 B4GALT1 Health Risk Pathogenic B4GALT1-congenital disorder of glycosylation, B4GALT1-congenital disorder of glycosylation
RS1840255421 HK1 Health Risk Conflicting classifications of pathogenicity Hemolytic anemia due to hexokinase deficiency, Hemolytic anemia due to hexokinase deficiency
RS184025552 MYL3 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 8, Hypertrophic cardiomyopathy
RS184026653 PCDH15 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1, Usher syndrome type 1F
RS1840277125 PTCH1 Health Risk Pathogenic Gorlin syndrome, Basal cell nevus syndrome 1
RS1840281213 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS1840282022 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Gorlin syndrome
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