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
RS398124513 ARX Health Risk Conflicting classifications of pathogenicity Intellectual disability, X-linked
RS398124520 ARX Health Risk Pathogenic —
RS398124523 FLCN Health Risk Pathogenic Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome
RS398124524 FLCN Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome
RS398124525 FLCN Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome
RS398124526 FLCN Health Risk Pathogenic Birt-Hogg-Dube syndrome, Familial spontaneous pneumothorax
RS398124527 FLCN Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome
RS398124528 FLCN Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome
RS398124529 FLCN Health Risk Pathogenic/Likely pathogenic Birt-Hogg-Dube syndrome, FLCN-related disorder
RS398124530 FLCN Health Risk Pathogenic/Likely pathogenic Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome
RS398124531 FLCN Health Risk Conflicting classifications of pathogenicity Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome
RS398124532 FLCN Health Risk Conflicting classifications of pathogenicity Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome
RS398124533 FLCN Health Risk Pathogenic/Likely pathogenic Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome
RS398124534 FLCN Health Risk Pathogenic Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome
RS398124535 FLCN Health Risk Pathogenic Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome
RS398124536 FLCN Health Risk Conflicting classifications of pathogenicity Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome
RS398124538 FLCN Health Risk Pathogenic Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome
RS398124539 FLCN Health Risk Pathogenic Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome
RS398124540 FLCN Health Risk Pathogenic —
RS398124541 FLCN Health Risk Pathogenic Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome
RS398124542 FLCN Health Risk Pathogenic Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome
RS398124543 LPIN1 Health Risk Conflicting classifications of pathogenicity Myoglobinuria, acute recurrent
RS398124544 HGSNAT Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-III-C
RS398124545 HGSNAT Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-III-C
RS398124546 NPHP3 Health Risk Pathogenic/Likely pathogenic Joubert syndrome and related disorders, Nephronophthisis
RS398124549 PANK2 Health Risk Conflicting classifications of pathogenicity Pigmentary pallidal degeneration, Pigmentary pallidal degeneration
RS398124552 MMAA Health Risk Pathogenic Methylmalonic aciduria, cblA type
RS398124554 ATP2A1 Health Risk Pathogenic —
RS398124555 ATP2A1 Health Risk Pathogenic/Likely pathogenic —
RS398124560 BCKDHB Health Risk Pathogenic/Likely pathogenic Maple syrup urine disease type 1B, Maple syrup urine disease
RS398124561 BCKDHB Health Risk Pathogenic/Likely pathogenic Maple syrup urine disease, Maple syrup urine disease type 1B
RS398124562 BCKDHB Health Risk Pathogenic/Likely pathogenic Maple syrup urine disease, Maple syrup urine disease type 1B
RS398124565 BCKDHB Health Risk Conflicting classifications of pathogenicity Maple syrup urine disease, Maple syrup urine disease
RS398124571 BCKDHB Health Risk Pathogenic/Likely pathogenic Maple syrup urine disease, Maple syrup urine disease type 1B
RS398124572 BCKDHB Health Risk Pathogenic/Likely pathogenic Maple syrup urine disease, Maple syrup urine disease type 1A
RS398124573 BCKDHB Health Risk Pathogenic Maple syrup urine disease, Maple syrup urine disease type 1A
RS398124574 BCKDHB Health Risk Pathogenic —
RS398124575 BCKDHB Health Risk Conflicting classifications of pathogenicity Maple syrup urine disease, Maple syrup urine disease type 1A
RS398124576 BCKDHB Health Risk Conflicting classifications of pathogenicity Maple syrup urine disease, Maple syrup urine disease
RS398124577 BCKDHB Health Risk Pathogenic —
RS398124579 BCKDHB Health Risk Conflicting classifications of pathogenicity Maple syrup urine disease, Maple syrup urine disease type 1B
RS398124580 BCKDHB Health Risk Conflicting classifications of pathogenicity Maple syrup urine disease, Maple syrup urine disease type 1B
RS398124581 BCKDHB Health Risk Pathogenic/Likely pathogenic Maple syrup urine disease type 1B, Maple syrup urine disease type 1A
RS398124582 BCKDHB Health Risk Pathogenic/Likely pathogenic Maple syrup urine disease, Maple syrup urine disease type 1B
RS398124585 BCKDHB Health Risk Conflicting classifications of pathogenicity Maple syrup urine disease, Maple syrup urine disease
RS398124586 BCKDHB Health Risk Pathogenic/Likely pathogenic Maple syrup urine disease, Maple syrup urine disease type 1B
RS398124587 BCKDHB Health Risk Pathogenic Maple syrup urine disease, Maple syrup urine disease type 1B
RS398124589 BCKDHB Health Risk Pathogenic Maple syrup urine disease, Maple syrup urine disease type 1A
RS398124592 BCKDHB Health Risk Pathogenic Maple syrup urine disease, Maple syrup urine disease
RS398124593 BCKDHB Health Risk Pathogenic Maple syrup urine disease, Maple syrup urine disease type 1B
RS398124594 BCKDHB Health Risk Pathogenic Maple syrup urine disease, Maple syrup urine disease type 1B
RS398124595 BCKDHB Health Risk Conflicting classifications of pathogenicity Maple syrup urine disease, Maple syrup urine disease type 1B
RS398124596 BCKDHB Health Risk Pathogenic Maple syrup urine disease, Maple syrup urine disease type 1A
RS398124598 BCKDHB Health Risk Pathogenic Maple syrup urine disease, Maple syrup urine disease type 1B
RS398124599 BCKDHB Health Risk Conflicting classifications of pathogenicity Maple syrup urine disease, Maple syrup urine disease type 1A
RS398124600 BCKDHB Health Risk Likely pathogenic —
RS398124601 BCKDHB Health Risk Pathogenic/Likely pathogenic Maple syrup urine disease type 1B, Maple syrup urine disease
RS398124602 BCKDHB Health Risk Pathogenic —
RS398124603 BCKDHB Health Risk Pathogenic/Likely pathogenic Maple syrup urine disease, Maple syrup urine disease type 1B
RS398124604 BCKDHB Health Risk Likely pathogenic Maple syrup urine disease type 1A, Maple syrup urine disease type 1A
RS398124607 NHS Health Risk Conflicting classifications of pathogenicity Nance-Horan syndrome, Inborn genetic diseases
RS398124608 NHS Health Risk Pathogenic —
RS398124609 NHS Health Risk Conflicting classifications of pathogenicity Nance-Horan syndrome, Nance-Horan syndrome
RS398124610 NHS Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Nance-Horan syndrome
RS398124611 NHS Health Risk Pathogenic —
RS398124613 KIF7 Health Risk Conflicting classifications of pathogenicity Acrocallosal syndrome, Acrocallosal syndrome
RS398124615 CRB1 Health Risk Conflicting classifications of pathogenicity Macular dystrophy, Autosomal recessive bestrophinopathy
RS398124616 PORCN Health Risk Conflicting classifications of pathogenicity —
RS398124617 PORCN Health Risk Pathogenic —
RS398124618 USH2A Health Risk Pathogenic Retinitis pigmentosa 39, Retinal dystrophy
RS398124619 USH2A Health Risk Pathogenic Retinitis pigmentosa 39, Usher syndrome type 2A
RS398124620 USH2A Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Usher syndrome
RS398124621 TSEN54 Health Risk Pathogenic —
RS398124622 TSEN54 Health Risk Conflicting classifications of pathogenicity Pontocerebellar hypoplasia type 4, Pontocerebellar hypoplasia type 4
RS398124624 ANO5 Health Risk Conflicting classifications of pathogenicity Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L
RS398124625 ANO5 Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia
RS398124626 ANO5 Health Risk Pathogenic Gnathodiaphyseal dysplasia, Miyoshi muscular dystrophy 3
RS398124627 GATA1 Health Risk Pathogenic LEUKEMIA, MEGAKARYOBLASTIC
RS398124628 GATA1 Health Risk Pathogenic Acute megakaryoblastic leukemia, GATA binding protein 1 related thrombocytopenia with dyserythropoiesis
RS398124629 APOH Health Risk Likely pathogenic —
RS398124631 POU4F3 Health Risk Pathogenic Autosomal dominant nonsyndromic hearing loss 15, Autosomal dominant nonsyndromic hearing loss 15
RS398124632 BCHE Health Risk Pathogenic Deficiency of butyrylcholinesterase, Deficiency of butyrylcholinesterase
RS398124633 FTL Health Risk Pathogenic Hereditary hyperferritinemia with congenital cataracts, Neuroferritinopathy
RS398124634 FTL Health Risk Pathogenic Hereditary hyperferritinemia with congenital cataracts, Hereditary hyperferritinemia with congenital cataracts
RS398124635 FTL Health Risk Pathogenic/Likely pathogenic Hereditary hyperferritinemia with congenital cataracts, Neuroferritinopathy
RS398124636 FTL Health Risk Pathogenic Hereditary hyperferritinemia with congenital cataracts, Neuroferritinopathy
RS398124637 FTL Health Risk Pathogenic/Likely pathogenic Hereditary hyperferritinemia with congenital cataracts, Neuroferritinopathy
RS398124638 FTL Health Risk Likely pathogenic Hereditary hyperferritinemia with congenital cataracts, L-ferritin deficiency
RS398124639 FTL Health Risk Pathogenic Hereditary hyperferritinemia with congenital cataracts, Hereditary hyperferritinemia with congenital cataracts
RS398124640 FTL Health Risk Likely pathogenic Neuroferritinopathy, Hereditary hyperferritinemia with congenital cataracts
RS398124641 SLC52A2 Health Risk Pathogenic Brown-Vialetto-van Laere syndrome 2, Inborn genetic diseases
RS398124642 SFXN4 Health Risk Pathogenic Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome, Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome
RS398124645 TAF2 Health Risk Pathogenic Microcephaly-thin corpus callosum-intellectual disability syndrome, Microcephaly-thin corpus callosum-intellectual disability syndrome
RS398124647 CALM2 Health Risk Pathogenic Long QT syndrome 1, Long QT syndrome 15
RS398124648 CALM2 Health Risk Pathogenic Long QT syndrome 15, Long QT syndrome 1
RS398124649 CALM2 Health Risk Pathogenic/Likely pathogenic Long QT syndrome 15, Long QT syndrome 1
RS398124650 CALM2 Health Risk Likely pathogenic Long QT syndrome 15, Long QT syndrome 1
RS398124651 FLRT3 Health Risk risk factor HYPOGONADOTROPIC HYPOGONADISM 21 WITH ANOSMIA, SUSCEPTIBILITY TO
RS398124652 FLRT3 Health Risk risk factor HYPOGONADOTROPIC HYPOGONADISM 21 WITH ANOSMIA, SUSCEPTIBILITY TO
RS398124653 FLRT3 Health Risk risk factor HYPOGONADOTROPIC HYPOGONADISM 21 WITH ANOSMIA, SUSCEPTIBILITY TO
« Prev 1 ... 2859 2860 2861 2862 2863 2864 2865 ... 4509 Next »

Upload your DNA to see which variants you carry and what they mean for your health.

Get Started Free →