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
RS185225806 SOX6 Health Risk Conflicting classifications of pathogenicity —
RS185230199 FANCE Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group E, Inborn genetic diseases
RS1852307190 LRRC56 Health Risk Conflicting classifications of pathogenicity Ciliary dyskinesia, primary
RS185232438 MYH14 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS185233212 FGFR1 Health Risk Conflicting classifications of pathogenicity Trigonocephaly 1, Craniosynostosis syndrome
RS1852354094 PDZD7 Health Risk Pathogenic —
RS185235724 ABCC9 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1O, Brugada syndrome
RS1852373110 PDZD7 Health Risk Likely pathogenic —
RS185237690 RYR2 Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia 1, Cardiovascular phenotype
RS185240845 CFHR4 Health Risk Conflicting classifications of pathogenicity —
RS185246154 SCN4A Health Risk Conflicting classifications of pathogenicity Hyperkalemic periodic paralysis, Paramyotonia congenita of Von Eulenburg
RS185246578 AP4S1 Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia 52, Spastic paraplegia
RS185247203 PNPLA6 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 39, Hereditary spastic paraplegia 39
RS185247361 TTC21B Health Risk Conflicting classifications of pathogenicity Nephronophthisis 12, Asphyxiating thoracic dystrophy 4
RS185247491 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Becker muscular dystrophy
RS1852475495 SLC6A5 Health Risk Pathogenic Hyperekplexia 3, Hyperekplexia 3
RS1852533572 OTOG Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 18B, Autosomal recessive nonsyndromic hearing loss 18B
RS1852552180 EBF3 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1852554969 EBF3 Health Risk Likely pathogenic Hypotonia, ataxia
RS1852575488 SBF2 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4B2, Charcot-Marie-Tooth disease type 4B2
RS1852607635 SLC6A5 Health Risk Pathogenic —
RS1852636503 ANO5 Health Risk Pathogenic Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L
RS1852640009 ANO5 Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2L, Autosomal recessive limb-girdle muscular dystrophy type 2L
RS1852674417 WT1 Health Risk Likely pathogenic Drash syndrome, Frasier syndrome
RS185267497 HADH Health Risk Conflicting classifications of pathogenicity Hyperinsulinemic hypoglycemia, familial
RS1852677213 WT1 Health Risk Conflicting classifications of pathogenicity Drash syndrome, Wilms tumor 1
RS1852720329 WT1 Health Risk Pathogenic Drash syndrome, Frasier syndrome
RS1852795747 BDNF Health Risk Likely pathogenic Obesity, Obesity
RS185282301 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS1852828620 PDZD7 Health Risk Pathogenic —
RS1852871649 ANO5 Health Risk Likely pathogenic Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L
RS1852872996 ANO5 Health Risk Conflicting classifications of pathogenicity Limb-girdle muscular dystrophy, Gnathodiaphyseal dysplasia
RS1852874979 ANO5 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia
RS1852896440 EBF3 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS185294741 F5 Health Risk Conflicting classifications of pathogenicity Factor V deficiency, Budd-Chiari syndrome
RS185296114 ADGRV1 Health Risk Conflicting classifications of pathogenicity —
RS185296216 COL18A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Nonpapillary renal cell carcinoma
RS1853049371 SPTAN1 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS185312959 PNPLA1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive congenital ichthyosis 10, PNPLA1-related disorder
RS1853148873 WT1 Health Risk Pathogenic —
RS1853238476 DNHD1 Health Risk Pathogenic —
RS185326652 TTLL5 Health Risk Conflicting classifications of pathogenicity —
RS185330217 KIDINS220 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS185332310 TMPRSS3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 8, Autosomal recessive nonsyndromic hearing loss 8
RS1853349816 BICD2 Health Risk Likely pathogenic Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures, Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
RS185335345 PROM1 Health Risk Conflicting classifications of pathogenicity —
RS1853361649 ANO5 Health Risk Likely pathogenic Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L
RS185337247 CEP41 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 15, Joubert syndrome 15
RS1853375829 BICD2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures, Inborn genetic diseases
RS185338915 SETX Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia, autosomal recessive
RS1853409127 BICD2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures, Inborn genetic diseases
RS185341934 BSCL2 Health Risk Conflicting classifications of pathogenicity Neuronopathy, distal hereditary motor
RS185342631 SERPING1 Health Risk Conflicting classifications of pathogenicity Hereditary angioedema type 1, C1 inhibitor deficiency
RS1853443391 LOC107982234;WT1 Health Risk Likely pathogenic Nephrotic syndrome, type 4
RS1853446972 WT1 Health Risk Likely pathogenic Male infertility with azoospermia or oligozoospermia due to single gene mutation, Male infertility with azoospermia or oligozoospermia due to single gene mutation
RS1853454967 WT1 Health Risk Conflicting classifications of pathogenicity Drash syndrome, Inborn genetic diseases
RS185346146 APC Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS1853462729 WT1 Health Risk Conflicting classifications of pathogenicity Wilms tumor 1, 11p partial monosomy syndrome
RS1853463147 OTOG Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 18B, Autosomal recessive nonsyndromic hearing loss 18B
RS185347145 LCA5 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 5, Leber congenital amaurosis 5
RS1853481697 WT1 Health Risk Conflicting classifications of pathogenicity Drash syndrome, Frasier syndrome
RS1853488507 BICD2 Health Risk Likely pathogenic Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures, Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
RS185350092 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS185350547 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS1853512469 OTOG Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 18B, Autosomal recessive nonsyndromic hearing loss 18B
RS185351326 PAPSS2 Health Risk Pathogenic Spondyloepimetaphyseal dysplasia, PAPSS2 type
RS1853549548 ZMIZ1 Health Risk Likely pathogenic Syndromic neurodevelopmental disorder, Syndromic neurodevelopmental disorder
RS185355384 MYH3 Health Risk Conflicting classifications of pathogenicity Distal arthrogryposis type 2B1, Freeman-Sheldon syndrome
RS185355445 PKD1 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease, adult type
RS185356145 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Lynch syndrome
RS185359850 ATRX Health Risk Conflicting classifications of pathogenicity Alpha thalassemia-X-linked intellectual disability syndrome, See cases
RS1853652543 OTOG Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 18B, Autosomal recessive nonsyndromic hearing loss 18B
RS185366134 RFT1 Health Risk Conflicting classifications of pathogenicity RFT1-congenital disorder of glycosylation, Inborn genetic diseases
RS1853674376 PAPSS2 Health Risk Pathogenic —
RS185367490 DSP Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS1853674954 PAPSS2 Health Risk Pathogenic Spondyloepimetaphyseal dysplasia, PAPSS2 type
RS185369512 CCDC78 Health Risk Conflicting classifications of pathogenicity —
RS185373190 OPN1SW Health Risk Conflicting classifications of pathogenicity —
RS1853786211 ANO5 Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia
RS185379779 TUFM Health Risk Conflicting classifications of pathogenicity Combined oxidative phosphorylation defect type 4, TUFM-related disorder
RS1853841874 SOX6 Health Risk Pathogenic Tolchin-Le Caignec syndrome, Tolchin-Le Caignec syndrome
RS1853849281 CD59 Health Risk Likely pathogenic Primary CD59 deficiency, Primary CD59 deficiency
RS1853882557 CDH23 Health Risk Pathogenic Childhood onset hearing loss, Usher syndrome type 1D
RS1853909290 ZMIZ1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1853919580 SPTAN1 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1853920585 SPTAN1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 5
RS185392267 PCSK9 Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS1853943430 CDH23 Health Risk Likely pathogenic —
RS1853955279 SBF2 Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 4B2, Charcot-Marie-Tooth disease type 4B2
RS185395584 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Dilated cardiomyopathy 3B
RS1853957938 SBF2 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS1853958093 SBF2 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS1853958124 SOX6 Health Risk Pathogenic Tolchin-Le Caignec syndrome, Tolchin-Le Caignec syndrome
RS1853966406 ANO5 Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia
RS1853968715 ANO5 Health Risk Pathogenic Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L
RS185397176 DNAH1 Health Risk Conflicting classifications of pathogenicity Spermatogenic failure 18, Ciliary dyskinesia
RS185398527 SLC30A2 Health Risk Pathogenic Zinc deficiency, transient neonatal
RS1854010513 GAS2 Health Risk Pathogenic Hearing loss, autosomal recessive 125
RS185401166 CCDC88C Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1854053830 OTOG Health Risk Likely pathogenic OTOG-related disorder, OTOG-related disorder
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