SNP Directory

400,964 genetic variants in our database.

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All (400,964) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS782800692 ATRX Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Alpha thalassemia-X-linked intellectual disability syndrome
RS782800778 NCF1 Health Risk Pathogenic Granulomatous disease, chronic
RS782801643 RPS19 Health Risk Conflicting classifications of pathogenicity Diamond-Blackfan anemia 1, Diamond-Blackfan anemia 1
RS782803011 HJV Health Risk Likely pathogenic Hemochromatosis type 2A, Hemochromatosis type 2A
RS782803276 ATP6V1B1 Health Risk Conflicting classifications of pathogenicity Renal tubular acidosis with progressive nerve deafness, Renal tubular acidosis with progressive nerve deafness
RS782804253 FLNA Health Risk Conflicting classifications of pathogenicity Heterotopia, periventricular
RS78280523 NIN Health Risk Conflicting classifications of pathogenicity NIN-related disorder, NIN-related disorder
RS782805682 FLNA Health Risk Likely pathogenic FLNA-related disorder, Thyroid cancer
RS782805733 LAMA4 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1JJ, Cardiovascular phenotype
RS782806462 EMD Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, X-linked Emery-Dreifuss muscular dystrophy
RS782806507 AVPR2 Health Risk Pathogenic/Likely pathogenic Nephrogenic syndrome of inappropriate antidiuresis, Diabetes insipidus
RS782806731 FLNA Health Risk Conflicting classifications of pathogenicity Oto-palato-digital syndrome, type II
RS782806801 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex, Ogna type
RS782807951 DLAT Health Risk Conflicting classifications of pathogenicity Pyruvate dehydrogenase E2 deficiency, Pyruvate dehydrogenase E2 deficiency
RS782808261 MYO7A Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 11, Usher syndrome type 1B
RS782809184 ABCD1 Health Risk Conflicting classifications of pathogenicity Adrenoleukodystrophy, Adrenoleukodystrophy
RS782810182 L1CAM Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Spastic paraplegia
RS782811561 SMC1A Health Risk Conflicting classifications of pathogenicity Congenital muscular hypertrophy-cerebral syndrome, Developmental and epileptic encephalopathy
RS782813346 CCN6 Health Risk Pathogenic Progressive pseudorheumatoid dysplasia, Progressive pseudorheumatoid dysplasia
RS782813533 TONSL Health Risk Pathogenic —
RS782814578 ARHGEF1 Health Risk Conflicting classifications of pathogenicity —
RS782816523 ATRX Health Risk Conflicting classifications of pathogenicity Alpha thalassemia-X-linked intellectual disability syndrome, Alpha thalassemia-X-linked intellectual disability syndrome
RS782817063 ATRX Health Risk Conflicting classifications of pathogenicity Alpha thalassemia-X-linked intellectual disability syndrome, Alpha thalassemia-X-linked intellectual disability syndrome
RS782817681 CLCN5 Health Risk Conflicting classifications of pathogenicity Dent disease type 1, Dent disease type 1
RS782818444 ACTG1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 20, Baraitser-winter syndrome 2
RS782818582 ADAMTS13 Health Risk Pathogenic —
RS782818837 ATP7A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, X-linked distal spinal muscular atrophy type 3
RS782819736 ATP1A3 Health Risk Conflicting classifications of pathogenicity Alternating hemiplegia of childhood 2, Dystonia 12
RS782820524 BTK Health Risk Pathogenic X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia with growth hormone deficiency
RS78284900 GPR179 Health Risk Conflicting classifications of pathogenicity Congenital stationary night blindness 1E, Congenital stationary night blindness 1E
RS78289603 MCFD2 Health Risk Pathogenic Factor 5 and Factor VIII, combined deficiency of
RS78290141 PMM2 Health Risk Conflicting classifications of pathogenicity PMM2-congenital disorder of glycosylation, PMM2-congenital disorder of glycosylation
RS78290342 BOC Health Risk Conflicting classifications of pathogenicity —
RS78291060 ADAMTSL1 Health Risk Conflicting classifications of pathogenicity —
RS78292723 CNGB1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Inborn genetic diseases
RS78293924 RAPSN Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 11, Fetal akinesia deformation sequence 1
RS78300695 TREX1 Health Risk Pathogenic/Likely pathogenic Aicardi-Goutieres syndrome 1, Chilblain lupus 1
RS78306886 CHRNA4 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy, Inborn genetic diseases
RS78310315 CYP19A1 Health Risk Pathogenic Aromatase deficiency, Aromatase deficiency
RS78310959 SPRY4 Health Risk Conflicting classifications of pathogenicity Hypogonadotropic hypogonadism 17 with or without anosmia, SPRY4-related disorder
RS78311289 FGFR3 Health Risk Pathogenic Spermatocytic seminoma, Multiple myeloma
RS78311619 MLH3 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis
RS78311688 CASC8 Health Risk association Familial prostate cancer, Familial prostate cancer
RS78320653 CTC1 Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, Cerebroretinal microangiopathy with calcifications and cysts 1
RS78320677 DLAT Health Risk Conflicting classifications of pathogenicity Pyruvate dehydrogenase E2 deficiency, Leigh syndrome
RS78321762 ITGA2B Health Risk Pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS78324544 NHLRC1 Health Risk Pathogenic Lafora disease, Inborn genetic diseases
RS78338172 ABCC8 Health Risk Conflicting classifications of pathogenicity Transitory neonatal diabetes mellitus, Maturity-onset diabetes of the young
RS78339727 EPG5 Health Risk Pathogenic Vici syndrome, Vici syndrome
RS78340311 PEX19 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 12A (Zellweger), PEX19-related disorder
RS78340951 ALDOB Health Risk Pathogenic Hereditary fructosuria, ALDOB-related disorder
RS78346432 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS78346510 SH3TC2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4C, Susceptibility to mononeuropathy of the median nerve
RS78347057 GNPTAB Health Risk Pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS78347871 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS78361537 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS78363053 SNORD118 Health Risk Conflicting classifications of pathogenicity —
RS78365220 G6PD Health Risk Pathogenic/Likely pathogenic G6PD deficiency, Anemia
RS78365682 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS78377084 OTOGL Health Risk Conflicting classifications of pathogenicity —
RS78378398 ZFP57 Health Risk Pathogenic Diabetes mellitus, transient neonatal
RS78386506 CNN2 Health Risk Pathogenic Pulmonary artery atresia, Pulmonary artery atresia
RS78388808 SLC2A1 Health Risk Conflicting classifications of pathogenicity Encephalopathy due to GLUT1 deficiency, Dystonia 9
RS78408272 TREX1 Health Risk Pathogenic Aicardi-Goutieres syndrome 1, Aicardi-Goutieres syndrome 1
RS78410483 AARS2 Health Risk Conflicting classifications of pathogenicity Combined oxidative phosphorylation defect type 8, Combined oxidative phosphorylation defect type 8
RS78411167 SOS1 Health Risk Conflicting classifications of pathogenicity Noonan syndrome 4, Fibromatosis
RS7841901 RPS20 Health Risk Conflicting classifications of pathogenicity —
RS78420579 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS78424919 STK36 Health Risk Conflicting classifications of pathogenicity —
RS78427072 LOXHD1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, LOXHD1-related disorder
RS78427077 COL6A3 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A
RS78432056 EP300 Health Risk Conflicting classifications of pathogenicity Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
RS78433217 PYGL Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type VI
RS78433961 INSR Health Risk Conflicting classifications of pathogenicity Monogenic diabetes, Rabson-Mendenhall syndrome
RS78437096 PRKCG Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia type 14, Spinocerebellar ataxia type 14
RS78437454 FANCM Health Risk Conflicting classifications of pathogenicity Fanconi anemia, FANCM-related disorder
RS78437817 JUP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular cardiomyopathy, Naxos disease
RS78440224 CFTR Health Risk Pathogenic Cystic fibrosis, Congenital bilateral aplasia of vas deferens from CFTR mutation
RS78449005 ZEB1 Health Risk Conflicting classifications of pathogenicity —
RS78457527 PIWIL3 Health Risk Conflicting classifications of pathogenicity —
RS78462952 FKTN Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A
RS78464826 RNASEH2C Health Risk Conflicting classifications of pathogenicity Aicardi-Goutieres syndrome 3, Aicardi Goutieres syndrome
RS78465857 SRCAP Health Risk Conflicting classifications of pathogenicity —
RS78468999 CCDC88C Health Risk Conflicting classifications of pathogenicity —
RS78471512 PCARE Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinal dystrophy
RS78478128 G6PD Health Risk Pathogenic/Likely pathogenic G6PD ORISSA, Anemia
RS78480723 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS78483218 LAMB3 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa, Junctional epidermolysis bullosa
RS78484040 CERKL Health Risk Likely pathogenic Cone-rod dystrophy, Cone-rod dystrophy
RS78484531 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Familial thoracic aortic aneurysm and aortic dissection
RS78484669 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS78488552 WRN Health Risk Conflicting classifications of pathogenicity Werner syndrome, Papillary renal cell carcinoma type 1
RS78488864 DCAF17 Health Risk Conflicting classifications of pathogenicity Woodhouse-Sakati syndrome, Inborn genetic diseases
RS78499613 UNC80 Health Risk Conflicting classifications of pathogenicity Hypotonia, infantile
RS78501232 LRRK2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant Parkinson disease 8, Autosomal dominant Parkinson disease 8
RS78503253 VAC14 Health Risk Conflicting classifications of pathogenicity —
RS78504541 GGCX Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, GGCX-related disorder
RS78506343 FGA Health Risk Conflicting classifications of pathogenicity Familial visceral amyloidosis, Ostertag type
RS78509062 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS78512710 FAM161A Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
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