SNP Directory

400,964 genetic variants in our database.

Clear
All (400,964) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS797044578 GFAP Health Risk Pathogenic Alexander disease, Alexander disease
RS797044579 GFAP Health Risk Pathogenic Alexander disease, Alexander disease
RS797044581 GFAP Health Risk Pathogenic Alexander disease, Alexander disease
RS797044582 GFAP Health Risk Pathogenic Alexander disease, Alexander disease
RS797044588 GFAP Health Risk Pathogenic Alexander disease, Alexander disease
RS797044590 GFAP Health Risk Pathogenic/Likely pathogenic Alexander disease, Alexander disease
RS797044592 GFAP Health Risk Pathogenic Alexander disease, Alexander disease
RS797044593 MAP2K1 Health Risk Likely pathogenic Cardiofaciocutaneous syndrome 3, RASopathy
RS797044594 TARDBP Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 10, FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS
RS797044600 MYH7 Health Risk Likely pathogenic —
RS797044603 TREM2 Health Risk Pathogenic Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1, Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1
RS797044604 CEP290 Health Risk Likely pathogenic Leber congenital amaurosis 10, Bardet-Biedl syndrome
RS797044605 LRPPRC Health Risk Pathogenic Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
RS797044606 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS797044607 PKHD1 Health Risk Likely pathogenic Classic homocystinuria, Classic homocystinuria
RS797044608 SACS Health Risk Likely pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS797044609 SLC3A1 Health Risk Likely pathogenic Cystinuria, Cystinuria
RS797044610 ABCD1 Health Risk Likely pathogenic Adrenoleukodystrophy, Inborn genetic diseases
RS797044611 ABCD1 Health Risk Likely pathogenic —
RS797044613 GLA Health Risk Pathogenic Fabry disease, Cardiovascular phenotype
RS797044620 SELENON Health Risk Pathogenic Eichsfeld type congenital muscular dystrophy, Eichsfeld type congenital muscular dystrophy
RS797044621 SELENON Health Risk Pathogenic Eichsfeld type congenital muscular dystrophy, Eichsfeld type congenital muscular dystrophy
RS797044623 CCM2 Health Risk Pathogenic/Likely pathogenic Cerebral cavernous malformation 2, CCM2-related disorder
RS797044625 ABCD1 Health Risk Likely pathogenic Adrenoleukodystrophy, Adrenoleukodystrophy
RS797044626 ABCD1 Health Risk Conflicting classifications of pathogenicity Adrenoleukodystrophy, Adrenoleukodystrophy
RS797044627 PAX6 Health Risk Pathogenic —
RS797044630 KMT2D Health Risk Pathogenic —
RS797044631 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS797044632 BBS2 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome 2, Bardet-Biedl syndrome 2
RS797044633 ACAT1 Health Risk Pathogenic —
RS797044636 CC2D2A Health Risk Pathogenic —
RS797044638 SH3PXD2B Health Risk Conflicting classifications of pathogenicity —
RS797044642 PAX6 Health Risk Pathogenic —
RS797044643 LAMA2 Health Risk Pathogenic —
RS797044644 HEXB Health Risk Pathogenic Sandhoff disease, Sandhoff disease
RS797044647 BCOR Health Risk Pathogenic —
RS797044649 RB1 Health Risk Pathogenic —
RS797044651 PHF8 Health Risk Conflicting classifications of pathogenicity Syndromic X-linked intellectual disability Siderius type, Syndromic X-linked intellectual disability Siderius type
RS797044652 FOXP1 Health Risk Pathogenic Intellectual disability-severe speech delay-mild dysmorphism syndrome, Inborn genetic diseases
RS797044658 MYO7A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1B, Usher syndrome type 1B
RS797044663 GNPTAB Health Risk Pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS797044665 PHF8 Health Risk Pathogenic/Likely pathogenic —
RS797044667 ANO5 Health Risk Pathogenic Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L
RS797044669 GLA Health Risk Pathogenic Fabry disease, Fabry disease
RS797044670 GLA Health Risk Pathogenic —
RS797044671 IDS Health Risk Pathogenic Mucopolysaccharidosis, MPS-II
RS797044675 NKX2-5 Health Risk Pathogenic —
RS797044676 CACNA1F Health Risk Pathogenic Aland island eye disease, Retinal dystrophy
RS797044677 CHRNG Health Risk Pathogenic Inborn genetic diseases, Autosomal recessive multiple pterygium syndrome
RS797044680 MAN2B1 Health Risk Pathogenic/Likely pathogenic Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS797044682 KDM5C Health Risk Pathogenic —
RS797044683 TTN Health Risk Likely pathogenic —
RS797044684 FLNA Health Risk Conflicting classifications of pathogenicity Heterotopia, periventricular
RS797044690 FLNA Health Risk Pathogenic —
RS797044691 RTTN Health Risk Likely pathogenic —
RS797044692 TTN Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS797044693 CNGB1 Health Risk Pathogenic —
RS797044695 KDM5C Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Spastic paraplegia
RS797044696 FRAS1 Health Risk Pathogenic —
RS797044697 TTN Health Risk Likely pathogenic —
RS797044702 GLA Health Risk Pathogenic Fabry disease, Cardiovascular phenotype
RS797044703 IDS Health Risk Pathogenic Mucopolysaccharidosis, MPS-II
RS797044706 KDM5C Health Risk Pathogenic —
RS797044709 EHMT1 Health Risk Conflicting classifications of pathogenicity Kleefstra syndrome 1, Kleefstra syndrome 1
RS797044712 COG7 Health Risk Pathogenic COG7 congenital disorder of glycosylation, COG7 congenital disorder of glycosylation
RS797044713 PKHD1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS797044714 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS797044723 ATRX Health Risk Pathogenic/Likely pathogenic —
RS797044724 FLNA Health Risk Pathogenic —
RS797044725 CHD7 Health Risk Pathogenic —
RS797044726 ABCD1 Health Risk Pathogenic Adrenoleukodystrophy, Adrenoleukodystrophy
RS797044727 GLA Health Risk Pathogenic/Likely pathogenic Fabry disease, Fabry disease
RS797044728 LAMA2 Health Risk Pathogenic —
RS797044729 PCCB Health Risk Pathogenic —
RS797044730 ACTG1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Autosomal dominant nonsyndromic hearing loss 20
RS797044731 KDM5C Health Risk Pathogenic —
RS797044733 MECP2 Health Risk Pathogenic —
RS797044735 RP1 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS797044739 FLNA Health Risk Conflicting classifications of pathogenicity Intellectual disability, Melnick-Needles syndrome
RS797044740 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS797044743 DMD Health Risk Pathogenic —
RS797044744 KMT2D Health Risk Pathogenic —
RS797044745 PKHD1 Health Risk Pathogenic Polycystic kidney disease 4, Polycystic kidney disease 4
RS797044746 GLA Health Risk Pathogenic/Likely pathogenic Cardiovascular phenotype, Fabry disease
RS797044747 GLA Health Risk Pathogenic Fabry disease, Fabry disease
RS797044748 GLA Health Risk Pathogenic/Likely pathogenic Fabry disease, Fabry disease
RS797044749 GLA Health Risk Pathogenic/Likely pathogenic Fabry disease, Cardiovascular phenotype
RS797044750 IDS Health Risk Pathogenic —
RS797044751 NAGLU Health Risk Pathogenic —
RS797044752 IQSEC2 Health Risk Conflicting classifications of pathogenicity Intellectual disability, X-linked 1
RS797044753 FLNA Health Risk Conflicting classifications of pathogenicity Melnick-Needles syndrome, Heterotopia
RS797044754 MMP13 Health Risk Pathogenic/Likely pathogenic MMP13-related disorder, MMP13-related disorder
RS797044755 RGS9 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS797044756 DMD Health Risk Pathogenic —
RS797044758 LMNA Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS797044761 RDH12 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Leber congenital amaurosis 13
RS797044762 PEX10 Health Risk Pathogenic —
RS797044764 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS797044768 GLA Health Risk Pathogenic Fabry disease, Fabry disease
RS797044769 GLA Health Risk Pathogenic —
« Prev 1 ... 3780 3781 3782 3783 3784 3785 3786 ... 4010 Next »

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

Get Started Free →