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
RS188314477 RYR1 Health Risk Conflicting classifications of pathogenicity Congenital multicore myopathy with external ophthalmoplegia, Malignant hyperthermia
RS1883152345 SGCG Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2C, Autosomal recessive limb-girdle muscular dystrophy
RS1883154291 SGCG Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2C, Autosomal recessive limb-girdle muscular dystrophy type 2C
RS188317014 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Marfan syndrome
RS188318743 RPGRIP1 Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy 13, Leber congenital amaurosis 6
RS188319622 MYOM1 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS188320187 HPS1 Health Risk Conflicting classifications of pathogenicity Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome 1
RS188323108 TTN Health Risk Conflicting classifications of pathogenicity Amyloidosis, hereditary systemic 1
RS188324379 COL4A3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS188324716 CPAP Health Risk Conflicting classifications of pathogenicity Microcephaly 6, primary
RS1883254940 RPGRIP1 Health Risk Pathogenic Leber congenital amaurosis 6, Cone-rod dystrophy 13
RS1883275009 COL4A2 Health Risk Likely pathogenic —
RS188327838 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS188329310 ESR2 Health Risk Conflicting classifications of pathogenicity —
RS188336294 SCN9A Health Risk Conflicting classifications of pathogenicity Primary erythromelalgia, Channelopathy-associated congenital insensitivity to pain
RS1883393913 SACS Health Risk Likely pathogenic Spastic paraplegia, Spastic paraplegia
RS1883396243 SACS Health Risk Likely pathogenic Spastic paraplegia, Charlevoix-Saguenay spastic ataxia
RS1883405453 SACS Health Risk Pathogenic/Likely pathogenic Spastic paraplegia, Charlevoix-Saguenay spastic ataxia
RS1883423972 SACS Health Risk Pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS188343279 CLASP1;CLASP1-AS1;RNU4ATAC Health Risk Pathogenic/Likely pathogenic Osteodysplastic primordial dwarfism, type 1
RS1883457103 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Spastic paraplegia
RS1883463670 SPART Health Risk Pathogenic —
RS1883465444 ACADS Health Risk Likely pathogenic Deficiency of butyryl-CoA dehydrogenase, Deficiency of butyryl-CoA dehydrogenase
RS1883486863 ACADS Health Risk Conflicting classifications of pathogenicity Deficiency of butyryl-CoA dehydrogenase, Deficiency of butyryl-CoA dehydrogenase
RS1883493225 ACADS Health Risk Likely pathogenic Deficiency of butyryl-CoA dehydrogenase, Deficiency of butyryl-CoA dehydrogenase
RS1883494822 SACS Health Risk Likely pathogenic —
RS1883537654 SACS Health Risk Likely pathogenic Spastic paraplegia, Spastic paraplegia
RS188354139 KCNMA1 Health Risk Conflicting classifications of pathogenicity Cerebellar atrophy, developmental delay
RS1883546949 TTLL5 Health Risk Pathogenic —
RS188356526 TMEM43 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 5, Cardiomyopathy
RS1883566609 SACS Health Risk Likely pathogenic Spastic paraplegia, Spastic paraplegia
RS1883570677 SACS Health Risk Conflicting classifications of pathogenicity Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS1883571351 SACS Health Risk Likely pathogenic Autosomal recessive spastic ataxia, Autosomal recessive spastic ataxia
RS1883571494 SACS Health Risk Likely pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS1883576381 SACS Health Risk Pathogenic/Likely pathogenic Spastic paraplegia, Charlevoix-Saguenay spastic ataxia
RS188360816 ANK1 Health Risk Conflicting classifications of pathogenicity Hereditary spherocytosis type 1, Hereditary spherocytosis type 1
RS188362786 ALDH18A1 Health Risk Conflicting classifications of pathogenicity ALDH18A1-related de Barsy syndrome, Cutis laxa
RS1883642606 ATP2B1 Health Risk Likely pathogenic Intellectual developmental disorder, autosomal dominant 66
RS1883673959 SACS Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS1883687132 SACS Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS188368977 SLC45A2 Health Risk Conflicting classifications of pathogenicity Oculocutaneous albinism type 4, Oculocutaneous albinism type 4
RS1883705830 SACS Health Risk Pathogenic —
RS188370772 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS188371196 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS188371820 TMPRSS6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS188372756 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS1883750182 COL4A2 Health Risk Pathogenic —
RS188376296 CDH23 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1, Pituitary adenoma 5
RS1883886214 RPL10L Health Risk Likely pathogenic Spermatogenesis maturation arrest, Spermatogenic failure 63
RS1883911620 TPP2 Health Risk Pathogenic Evans syndrome, immunodeficiency
RS188394023 FLG Health Risk Pathogenic/Likely pathogenic Ichthyosis vulgaris, Ichthyosis vulgaris
RS188395969 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS188397613 UMOD Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS188397648 ARHGAP35 Health Risk Likely pathogenic Martsolf syndrome 1, Martsolf syndrome 1
RS188399257 ALG12 Health Risk Likely pathogenic ALG12-congenital disorder of glycosylation, ALG12-congenital disorder of glycosylation
RS1884009515 MMAB Health Risk Pathogenic Methylmalonic aciduria, cblB type
RS188404773 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS188409125 SLC34A1 Health Risk Likely pathogenic Hypophosphatemic nephrolithiasis/osteoporosis 1, Hypercalcemia
RS1884098435 COL4A2 Health Risk Likely pathogenic Porencephaly 2, Porencephaly 2
RS1884100386 MMAB Health Risk Conflicting classifications of pathogenicity Methylmalonic aciduria, cblB type
RS1884133804 RPGRIP1 Health Risk Pathogenic Leber congenital amaurosis 6, Leber congenital amaurosis 6
RS1884177009 MMAB Health Risk Pathogenic Methylmalonic aciduria, cblB type
RS188417716 TCTN2 Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Meckel-Gruber syndrome
RS1884198492 MMAB Health Risk Likely pathogenic Methylmalonic aciduria, cblB type
RS1884201610 MMAB Health Risk Pathogenic Methylmalonic aciduria, cblB type
RS1884302 BMP2 Health Risk risk factor Craniosynostosis 7, Craniosynostosis 7
RS188431787 NPHP3 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, NPHP3-related disorder
RS188435877 KMT2A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS188437289 SLC26A3 Health Risk Conflicting classifications of pathogenicity Congenital secretory diarrhea, chloride type
RS188446159 ANKRD26 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1884498480 GALC Health Risk Likely pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS1884501856 GALC Health Risk Conflicting classifications of pathogenicity Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS188452841 ADGRV1 Health Risk Conflicting classifications of pathogenicity Febrile seizures, familial
RS188462546 ESRRB Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 35, Autosomal recessive nonsyndromic hearing loss 35
RS1884632948 MMAB Health Risk Pathogenic Methylmalonic aciduria, cblB type
RS1884683982 NAGLU Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-III-B
RS188471808 HSD17B3 Health Risk Conflicting classifications of pathogenicity Testosterone 17-beta-dehydrogenase deficiency, Testosterone 17-beta-dehydrogenase deficiency
RS188474049 GNPAT Health Risk Conflicting classifications of pathogenicity Rhizomelic chondrodysplasia punctata type 2, Rhizomelic chondrodysplasia punctata type 2
RS1884749143 MMAB Health Risk Pathogenic Methylmalonic aciduria, cblB type
RS1884762471 GALC Health Risk Conflicting classifications of pathogenicity Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS1884764241 GALC Health Risk Conflicting classifications of pathogenicity Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS1884764754 GALC Health Risk Pathogenic/Likely pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS1884765073 GALC Health Risk Pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS1884767890 GALC Health Risk Likely pathogenic —
RS188476936 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement
RS188477537 ITPR1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS188478638 TMEM216 Health Risk Conflicting classifications of pathogenicity Meckel syndrome, type 2
RS188482293 TTN Health Risk Conflicting classifications of pathogenicity —
RS188482846 MECOM Health Risk Pathogenic —
RS188482891 RP1L1 Health Risk Conflicting classifications of pathogenicity Occult macular dystrophy, Inborn genetic diseases
RS1884842111 B4GALNT1 Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia 26, Spastic paraparesis
RS1884843673 GALC Health Risk Likely pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS1884845930 GALC Health Risk Pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS188485743 MYO15A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS1884864809 MVK Health Risk Likely pathogenic Mevalonic aciduria, Porokeratosis 3
RS188486690 SLC25A13 Health Risk Conflicting classifications of pathogenicity Citrin deficiency, Citrullinemia type II
RS188487818 LAMB2 Health Risk Conflicting classifications of pathogenicity Pierson syndrome, LAMB2-related infantile-onset nephrotic syndrome
RS188488264 INPP5E Health Risk Likely pathogenic —
RS188490457 COL11A2 Health Risk Conflicting classifications of pathogenicity Otospondylomegaepiphyseal dysplasia, autosomal recessive
RS188492864 CERKL Health Risk Pathogenic Retinal dystrophy, Retinitis pigmentosa 26
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