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
RS1850797114 ERCC6 Health Risk Conflicting classifications of pathogenicity 7 conditions, Magnetic resonance imaging of brain abnormal
RS1850797541 ERCC6 Health Risk Likely pathogenic Cockayne syndrome type 2, Cockayne syndrome type 2
RS185080024 TBL2 Health Risk Conflicting classifications of pathogenicity —
RS1850805503 RAG1 Health Risk Pathogenic/Likely pathogenic Combined immunodeficiency with skin granulomas, Severe combined immunodeficiency
RS1850809690 RAG1 Health Risk Likely pathogenic Combined immunodeficiency with skin granulomas, Combined immunodeficiency with skin granulomas
RS1850812562 RAG1 Health Risk Pathogenic Severe combined immunodeficiency, autosomal recessive
RS1850818899 ERCC6 Health Risk Pathogenic/Likely pathogenic ERCC6-related disorder, ERCC6-related disorder
RS185082202 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex, Ogna type
RS1850828988 RAG1 Health Risk Likely pathogenic Combined immunodeficiency with skin granulomas, Severe combined immunodeficiency
RS1850830824 RAG1 Health Risk Pathogenic/Likely pathogenic Combined immunodeficiency with skin granulomas, Severe combined immunodeficiency
RS1850831525 ERCC6 Health Risk Likely pathogenic Cockayne syndrome type 2, Cockayne syndrome type 2
RS1850832063 ERCC6 Health Risk Likely pathogenic Cockayne syndrome type 2, Cockayne syndrome type 2
RS1850832795 ERCC6 Health Risk Likely pathogenic Cockayne syndrome type 2, Cockayne syndrome type 2
RS1850837839 RAG1 Health Risk Pathogenic Combined immunodeficiency due to partial RAG1 deficiency, Severe combined immunodeficiency
RS1850845029 RAG1 Health Risk Likely pathogenic Combined immunodeficiency due to partial RAG1 deficiency, Combined immunodeficiency due to partial RAG1 deficiency
RS185084650 LRP4 Health Risk Conflicting classifications of pathogenicity Cenani-Lenz syndactyly syndrome, Congenital myasthenic syndrome 17
RS1850847819 RAG1 Health Risk Pathogenic Combined immunodeficiency with skin granulomas, Severe combined immunodeficiency
RS185087320 STK11 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Peutz-Jeghers syndrome
RS1850874595 ERCC6 Health Risk Likely pathogenic Cockayne syndrome type 2, Cockayne syndrome type 2
RS185088779 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS185089786 TTC21B Health Risk Pathogenic Asphyxiating thoracic dystrophy 4, Nephronophthisis
RS185091392 CDK5RAP2 Health Risk Conflicting classifications of pathogenicity Microcephaly 3, primary
RS1850916835 ERCC6 Health Risk Likely pathogenic Cockayne syndrome type 2, Cockayne syndrome type 2
RS1850950786 USH1C Health Risk Likely pathogenic Usher syndrome type 1C, Usher syndrome type 1C
RS1850953103 USH1C Health Risk Pathogenic —
RS1850961650 USH1C Health Risk Pathogenic Usher syndrome type 2, Usher syndrome type 2
RS1850962546 USH1C Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 18A, Autosomal recessive nonsyndromic hearing loss 18A
RS1850976904 USH1C Health Risk Pathogenic —
RS1850985627 USH1C Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 18A, Autosomal recessive nonsyndromic hearing loss 18A
RS1851000838 ERCC6 Health Risk Pathogenic —
RS1851015811 ERCC6 Health Risk Pathogenic/Likely pathogenic Cockayne syndrome type 2, Cockayne syndrome type 2
RS185105210 CDH23 Health Risk Conflicting classifications of pathogenicity CDH23-related disorder, CDH23-related disorder
RS1851062418 RAG2 Health Risk Pathogenic Combined immunodeficiency with skin granulomas, Severe combined immunodeficiency
RS1851074524 RAG2 Health Risk Pathogenic Combined immunodeficiency with skin granulomas, Severe combined immunodeficiency
RS1851074701 RAG2 Health Risk Pathogenic Severe combined immunodeficiency, autosomal recessive
RS1851080959 RAG2 Health Risk Pathogenic Combined immunodeficiency with skin granulomas, Severe combined immunodeficiency
RS1851081720 RAG2 Health Risk Likely pathogenic Severe combined immunodeficiency, autosomal recessive
RS1851096223 RAG2 Health Risk Pathogenic Combined immunodeficiency with skin granulomas, Severe combined immunodeficiency
RS1851098227 RAG2 Health Risk Pathogenic Severe combined immunodeficiency, autosomal recessive
RS1851104914 RAG2 Health Risk Conflicting classifications of pathogenicity Histiocytic medullary reticulosis, Severe combined immunodeficiency
RS1851109762 SPTAN1 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 5
RS185111037 STX16 Health Risk Conflicting classifications of pathogenicity Pseudohypoparathyroidism type 1B, Inborn genetic diseases
RS185112635 PRX Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease
RS185119406 PAX3 Health Risk Conflicting classifications of pathogenicity Waardenburg syndrome, Craniofacial-deafness-hand syndrome
RS185119682 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
RS1851221121 MINPP1 Health Risk Pathogenic Pontocerebellar hypoplasia, type 16
RS1851242529 HRAS Health Risk Conflicting classifications of pathogenicity Costello syndrome, HRAS-related disorder
RS1851245429 HRAS Health Risk Conflicting classifications of pathogenicity Costello syndrome, Ovarian cancer
RS185127002 FYCO1 Health Risk Conflicting classifications of pathogenicity Cataract 18, Cataract 18
RS1851272766 HRAS Health Risk Conflicting classifications of pathogenicity Costello syndrome, Cardiovascular phenotype
RS1851273791 CAPRIN1 Health Risk Likely pathogenic Focal-onset seizure, Moderate global developmental delay
RS1851281486 CARS1 Health Risk Pathogenic Microcephaly, developmental delay
RS185129255 TRPM1 Health Risk Conflicting classifications of pathogenicity Congenital stationary night blindness 1C, Congenital stationary night blindness 1C
RS1851321186 HRAS Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Costello syndrome
RS1851339301 ERCC6 Health Risk Pathogenic —
RS185134294 PRDM5 Health Risk Conflicting classifications of pathogenicity Brittle cornea syndrome 2, Ehlers-Danlos syndrome
RS185135224 ITGB3 Health Risk Pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia 2
RS1851359623 SPTAN1 Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS185142838 ERCC6 Health Risk Pathogenic Cerebrooculofacioskeletal syndrome 1, Inborn genetic diseases
RS1851434105 ERCC6 Health Risk Likely pathogenic Cockayne syndrome type 2, Cockayne syndrome type 2
RS1851486514 BRSK2 Health Risk Likely pathogenic BRSK2-related disorder, BRSK2-related disorder
RS1851490729 SOX6 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS185149793 SH3TC2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4
RS185150226 CHD7 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, CHARGE syndrome
RS185151361 ANTXR2 Health Risk Conflicting classifications of pathogenicity Hyaline fibromatosis syndrome, Hyaline fibromatosis syndrome
RS185154265 MYO6 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 37, Autosomal dominant nonsyndromic hearing loss 22
RS185154886 APC Health Risk Pathogenic/Likely pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS185157579 CCDC40 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 15
RS185159716 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS1851605100 USH1C Health Risk Likely pathogenic —
RS185162256 NPHP4 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, NPHP4-related disorder
RS1851660058 TWNK Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia, Perrault syndrome 5
RS1851689793 TWNK Health Risk Pathogenic —
RS185171880 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS185178312 TYRP1 Health Risk Conflicting classifications of pathogenicity Oculocutaneous albinism type 3, Oculocutaneous albinism type 3
RS185181696 PEX1 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 1B, Peroxisome biogenesis disorder 1A (Zellweger)
RS185181819 EOGT Health Risk Pathogenic Adams-Oliver syndrome 4, Familial cancer of breast
RS1851829439 WT1 Health Risk Pathogenic Wilms tumor 1, 11p partial monosomy syndrome
RS1851829640 WT1 Health Risk Conflicting classifications of pathogenicity Ambiguous genitalia, Disorder of sexual differentiation
RS1851834162 WT1 Health Risk Conflicting classifications of pathogenicity Wilms tumor 1, 11p partial monosomy syndrome
RS185184076 UQCRQ Health Risk Conflicting classifications of pathogenicity Mitochondrial complex III deficiency nuclear type 4, Mitochondrial complex III deficiency nuclear type 4
RS1851851609 WT1 Health Risk Conflicting classifications of pathogenicity —
RS1851867365 SPTAN1 Health Risk Likely pathogenic Distal lower limb muscle weakness, Distal lower limb muscle weakness
RS1851976798 WT1 Health Risk Likely pathogenic Wilms tumor 1, 11p partial monosomy syndrome
RS1851981434 OTOG Health Risk Pathogenic/Likely pathogenic Rare genetic deafness, Autosomal recessive nonsyndromic hearing loss 18B
RS185201841 GRIPAP1 Health Risk Conflicting classifications of pathogenicity Seizure, Seizure
RS185204667 NF1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Neurofibromatosis
RS185207099 TNXB Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Ehlers-Danlos syndrome due to tenascin-X deficiency
RS1852100661 WT1 Health Risk Pathogenic —
RS1852103616 WT1 Health Risk Likely pathogenic Premature ovarian failure, Premature ovarian failure
RS1852105706 TG Health Risk Pathogenic Iodotyrosyl coupling defect, Iodotyrosyl coupling defect
RS1852112548 SPTAN1 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS185212943 KCNJ1 Health Risk Pathogenic Bartter disease type 2, Bartter disease type 2
RS1852152679 SPTAN1 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS185216067 STAT1 Health Risk Conflicting classifications of pathogenicity Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency, Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
RS185219431 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS185220846 PJVK Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 59, Autosomal recessive nonsyndromic hearing loss 59
RS185223937 ZEB2 Health Risk Conflicting classifications of pathogenicity Mowat-Wilson syndrome, Inborn genetic diseases
RS185224477 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS185225547 ABCA4 Health Risk Likely pathogenic ABCA4-related disorder, Retinal dystrophy
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