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
RS2522724685 FLNA Health Risk Pathogenic Melnick-Needles syndrome, Oto-palato-digital syndrome
RS2522726645 FLNA Health Risk Likely pathogenic Oto-palato-digital syndrome, type II
RS2522726871 FLNA Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS2522726926 FLNA Health Risk Pathogenic Heterotopia, periventricular
RS2522728586 FLNA Health Risk Pathogenic Heterotopia, periventricular
RS2522731492 C8B Health Risk Pathogenic —
RS2522733678 FLNA Health Risk Likely pathogenic FLNA-related disorder, FLNA-related disorder
RS2522733776 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS2522735557 FLNA Health Risk Pathogenic/Likely pathogenic Heterotopia, periventricular
RS2522737552 AGRN Health Risk Pathogenic Congenital myasthenic syndrome 8, Congenital myasthenic syndrome 8
RS2522737559 FLNA Health Risk Likely pathogenic —
RS2522740030 FLNA Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS2522740256 FLNA Health Risk Likely pathogenic Melnick-Needles syndrome, Oto-palato-digital syndrome
RS2522740258 FLNA Health Risk Likely pathogenic Oto-palato-digital syndrome, type II
RS2522741003 FLNA Health Risk Likely pathogenic Heterotopia, periventricular
RS2522741040 FLNA Health Risk Likely pathogenic —
RS2522741180 FLNA Health Risk Likely pathogenic FG syndrome 2, FG syndrome 2
RS2522742297 AGRN Health Risk Likely pathogenic Congenital myasthenic syndrome 8, Congenital myasthenic syndrome 8
RS2522745674 FLNA Health Risk Pathogenic Heterotopia, periventricular
RS2522747844 C8B Health Risk Pathogenic —
RS2522747986 FLNA Health Risk Likely pathogenic —
RS2522748423 C8B Health Risk Pathogenic —
RS2522748497 GNB1 Health Risk Pathogenic/Likely pathogenic Intellectual disability, autosomal dominant 42
RS2522748603 GNB1 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 42
RS2522749173 FLNA Health Risk Likely pathogenic Heterotopia, periventricular
RS2522750344 GNB1 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 42
RS2522751007 GNB1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 42
RS2522752773 CSF2RA Health Risk Pathogenic Surfactant metabolism dysfunction, pulmonary
RS2522752902 FLNA Health Risk Pathogenic —
RS2522753214 RBMX Health Risk Pathogenic Syndromic X-linked intellectual disability Shashi type, Syndromic X-linked intellectual disability Shashi type
RS2522753919 FLNA Health Risk Likely pathogenic FLNA-related disorder, FLNA-related disorder
RS2522753973 FLNA Health Risk Pathogenic Oto-palato-digital syndrome, type II
RS2522756775 FLNA Health Risk Pathogenic —
RS2522757689 FLNA Health Risk Pathogenic Oto-palato-digital syndrome, type II
RS2522760708 FLNA Health Risk Likely pathogenic FLNA-related disorder, FLNA-related disorder
RS2522760720 FLNA Health Risk Likely pathogenic FLNA-related disorder, FLNA-related disorder
RS2522761063 FLNA Health Risk Likely pathogenic Heterotopia, periventricular
RS2522761716 FLNA Health Risk Pathogenic Heterotopia, periventricular
RS2522762140 RBMX Health Risk Pathogenic Severe X-linked intellectual disability, Gustavson type
RS2522762487 FLNA Health Risk Pathogenic Melnick-Needles syndrome, Oto-palato-digital syndrome
RS2522763814 FLNA Health Risk Likely pathogenic Frontometaphyseal dysplasia, Oto-palato-digital syndrome
RS2522764531 FLNA Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS2522765267 FLNA Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS2522765595 FLNA Health Risk Likely pathogenic Heterotopia, periventricular
RS2522766989 KDM6A Health Risk Pathogenic KDM6A-related disorder, KDM6A-related disorder
RS2522767271 RBMX Health Risk Likely pathogenic Severe X-linked intellectual disability, Gustavson type
RS2522770771 KDM6A Health Risk Pathogenic Kabuki syndrome 2, Kabuki syndrome 2
RS2522771333 FLNA Health Risk Conflicting classifications of pathogenicity Melnick-Needles syndrome, Heterotopia
RS2522771398 FLNA Health Risk Likely pathogenic FLNA-related disorder, FLNA-related disorder
RS2522771411 FLNA Health Risk Likely pathogenic Oto-palato-digital syndrome, type II
RS2522771473 FLNA Health Risk Pathogenic Oto-palato-digital syndrome, type II
RS2522771731 FLNA Health Risk Pathogenic Heterotopia, periventricular
RS2522771783 FLNA Health Risk Likely pathogenic FLNA-related disorder, FLNA-related disorder
RS2522771786 FLNA Health Risk Pathogenic Heterotopia, periventricular
RS2522771792 FLNA Health Risk Pathogenic/Likely pathogenic Oto-palato-digital syndrome, type II
RS2522771899 FLNA Health Risk Likely pathogenic FLNA-related disorder, FLNA-related disorder
RS2522772830 C8B Health Risk Pathogenic —
RS2522775487 CHKB Health Risk Likely pathogenic Megaconial type congenital muscular dystrophy, Megaconial type congenital muscular dystrophy
RS2522778329 CHKB Health Risk Likely pathogenic Megaconial type congenital muscular dystrophy, Megaconial type congenital muscular dystrophy
RS2522782154 KDM6A Health Risk Pathogenic Malignant tumor of urinary bladder, Malignant tumor of urinary bladder
RS2522783978 CHKB Health Risk Pathogenic Megaconial type congenital muscular dystrophy, Megaconial type congenital muscular dystrophy
RS2522784063 CHKB Health Risk Pathogenic Megaconial type congenital muscular dystrophy, Megaconial type congenital muscular dystrophy
RS2522785657 CHKB Health Risk Pathogenic Megaconial type congenital muscular dystrophy, Megaconial type congenital muscular dystrophy
RS2522787001 EMD Health Risk Pathogenic X-linked myopathy with postural muscle atrophy, X-linked myopathy with postural muscle atrophy
RS2522787159 EMD Health Risk Pathogenic X-linked Emery-Dreifuss muscular dystrophy, X-linked Emery-Dreifuss muscular dystrophy
RS2522787619 EMD Health Risk Pathogenic X-linked Emery-Dreifuss muscular dystrophy, X-linked Emery-Dreifuss muscular dystrophy
RS2522787812 EMD Health Risk Pathogenic X-linked Emery-Dreifuss muscular dystrophy, X-linked Emery-Dreifuss muscular dystrophy
RS2522788283 EMD Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2522788352 EMD Health Risk Pathogenic X-linked Emery-Dreifuss muscular dystrophy, X-linked Emery-Dreifuss muscular dystrophy
RS2522788362 EMD Health Risk Pathogenic X-linked Emery-Dreifuss muscular dystrophy, X-linked Emery-Dreifuss muscular dystrophy
RS2522789000 EMD Health Risk Pathogenic X-linked Emery-Dreifuss muscular dystrophy, X-linked Emery-Dreifuss muscular dystrophy
RS2522789017 EMD Health Risk Pathogenic X-linked Emery-Dreifuss muscular dystrophy, Thyroid cancer
RS2522789026 EMD Health Risk Pathogenic X-linked Emery-Dreifuss muscular dystrophy, X-linked Emery-Dreifuss muscular dystrophy
RS2522789883 CHKB Health Risk Likely pathogenic Megaconial type congenital muscular dystrophy, Megaconial type congenital muscular dystrophy
RS2522789891 EMD Health Risk Pathogenic Emery-Dreifuss muscular dystrophy 1, X-linked
RS2522789929 EMD Health Risk Likely pathogenic Emery-Dreifuss muscular dystrophy 1, X-linked
RS2522790106 EMD Health Risk Likely pathogenic Emery-Dreifuss muscular dystrophy 1, X-linked
RS2522790318 EMD Health Risk Pathogenic X-linked Emery-Dreifuss muscular dystrophy, X-linked Emery-Dreifuss muscular dystrophy
RS2522790590 EMD Health Risk Pathogenic X-linked Emery-Dreifuss muscular dystrophy, X-linked Emery-Dreifuss muscular dystrophy
RS2522790624 EMD Health Risk Pathogenic X-linked Emery-Dreifuss muscular dystrophy, X-linked Emery-Dreifuss muscular dystrophy
RS2522790651 EMD Health Risk Likely pathogenic Emery-Dreifuss muscular dystrophy 1, X-linked
RS2522790689 EMD Health Risk Pathogenic/Likely pathogenic X-linked Emery-Dreifuss muscular dystrophy, Emery-Dreifuss muscular dystrophy 1
RS2522790701 EMD Health Risk Pathogenic X-linked Emery-Dreifuss muscular dystrophy, X-linked Emery-Dreifuss muscular dystrophy
RS2522790717 EMD Health Risk Pathogenic/Likely pathogenic X-linked Emery-Dreifuss muscular dystrophy, X-linked Emery-Dreifuss muscular dystrophy
RS2522791777 DNAAF6 Health Risk Pathogenic/Likely pathogenic —
RS2522795281 C8B Health Risk Likely pathogenic —
RS2522795828 DNAAF6 Health Risk Pathogenic Thyroid cancer, nonmedullary
RS2522797198 SH2D1A Health Risk Pathogenic X-linked lymphoproliferative disease due to SH2D1A deficiency, X-linked lymphoproliferative disease due to SH2D1A deficiency
RS2522797252 SH2D1A Health Risk Conflicting classifications of pathogenicity X-linked lymphoproliferative disease due to SH2D1A deficiency, X-linked lymphoproliferative disease due to SH2D1A deficiency
RS2522797441 SH2D1A Health Risk Pathogenic X-linked lymphoproliferative disease due to SH2D1A deficiency, X-linked lymphoproliferative disease due to SH2D1A deficiency
RS2522797763 MMACHC Health Risk Pathogenic Cobalamin C disease, Cobalamin C disease
RS2522798017 MMACHC Health Risk Pathogenic Cobalamin C disease, Cobalamin C disease
RS2522798223 MMACHC Health Risk Likely pathogenic Cobalamin C disease, Cobalamin C disease
RS2522798233 MMACHC Health Risk Likely pathogenic Cobalamin C disease, Cobalamin C disease
RS2522798359 MMACHC Health Risk Likely pathogenic Cobalamin C disease, Cobalamin C disease
RS2522799460 AGRN Health Risk Likely pathogenic Congenital myasthenic syndrome 8, Congenital myasthenic syndrome 8
RS2522799594 PLOD1 Health Risk Pathogenic Ehlers-Danlos syndrome, kyphoscoliotic type 1
RS2522799648 PLOD1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, kyphoscoliotic type 1
RS2522804871 PLOD1 Health Risk Pathogenic Ehlers-Danlos syndrome, kyphoscoliotic type 1
RS2522805333 PLOD1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, kyphoscoliotic type 1
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