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
RS368451486 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome
RS368451573 MYH6 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1EE, Hypertrophic cardiomyopathy 14
RS368451664 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS368451975 ANKRD26 Health Risk Conflicting classifications of pathogenicity Thrombocytopenia 2, Inborn genetic diseases
RS368452072 MYO7A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1, Autosomal recessive nonsyndromic hearing loss 2
RS368452281 TSHR Health Risk Conflicting classifications of pathogenicity Familial hyperthyroidism due to mutations in TSH receptor, Hypothyroidism due to TSH receptor mutations
RS368452607 TTN Health Risk Pathogenic/Likely pathogenic Primary dilated cardiomyopathy, Dilated cardiomyopathy 1G
RS368452647 HGSNAT Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-III-C
RS368453653 NR3C2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant pseudohypoaldosteronism type 1, NR3C2-related disorder
RS368453789 LIAS Health Risk Conflicting classifications of pathogenicity Lipoic acid synthetase deficiency, Inborn genetic diseases
RS368454909 IDUA Health Risk Likely pathogenic Mucopolysaccharidosis type 1, Mucopolysaccharidosis type 1
RS368455032 SLC12A3 Health Risk Conflicting classifications of pathogenicity Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS368455215 TRIM32 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS368456533 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS368458156 FAM161A Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS368458295 ABCB4 Health Risk Conflicting classifications of pathogenicity ABCB4-related disorder, ABCB4-related disorder
RS368458768 TPK1 Health Risk Pathogenic/Likely pathogenic Childhood encephalopathy due to thiamine pyrophosphokinase deficiency, Childhood encephalopathy due to thiamine pyrophosphokinase deficiency
RS368458853 EYS Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 25, Inborn genetic diseases
RS368459116 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS368460023 ABAT Health Risk Likely pathogenic Gamma-aminobutyric acid transaminase deficiency, Gamma-aminobutyric acid transaminase deficiency
RS368460226 DNAH8 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS368462679 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS368462762 ABCD1 Health Risk Conflicting classifications of pathogenicity Adrenoleukodystrophy, Inborn genetic diseases
RS368463899 GPRASP3 Health Risk Conflicting classifications of pathogenicity —
RS368465218 ADAMTS10 Health Risk Conflicting classifications of pathogenicity Weill-Marchesani syndrome, Weill-Marchesani syndrome
RS368465960 SETD2 Health Risk Conflicting classifications of pathogenicity Luscan-Lumish syndrome, Luscan-Lumish syndrome
RS368466242 ITGB4 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa with pyloric atresia, Junctional epidermolysis bullosa with pyloric atresia
RS368466538 STK11 Health Risk Conflicting classifications of pathogenicity Peutz-Jeghers syndrome, Hereditary cancer-predisposing syndrome
RS368468256 SYNE1 Health Risk Pathogenic Arthrogryposis multiplex congenita 3, myogenic type
RS368468521 POR Health Risk Conflicting classifications of pathogenicity Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency, Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
RS368468642 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS368469075 ACADS Health Risk Pathogenic/Likely pathogenic Deficiency of butyryl-CoA dehydrogenase, Deficiency of butyryl-CoA dehydrogenase
RS368471505 HERC1 Health Risk Conflicting classifications of pathogenicity HERC1-related disorder, HERC1-related disorder
RS368471624 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS368471915 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome 1, Kabuki syndrome
RS368472328 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS368472521 FLNB Health Risk Conflicting classifications of pathogenicity Atelosteogenesis type III, Atelosteogenesis type III
RS368472938 MYH14 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Autosomal dominant nonsyndromic hearing loss 4A
RS368473756 DHCR7 Health Risk Conflicting classifications of pathogenicity Smith-Lemli-Opitz syndrome, Inborn genetic diseases
RS368475300 RUNX2 Health Risk Conflicting classifications of pathogenicity —
RS368476008 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS368476334 CHRNA4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Autosomal dominant nocturnal frontal lobe epilepsy
RS368477108 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex, Ogna type
RS368477337 ZHX3 Health Risk Conflicting classifications of pathogenicity —
RS368478276 GPAA1 Health Risk Pathogenic —
RS368478807 GNPTG Health Risk Conflicting classifications of pathogenicity GNPTG-mucolipidosis, GNPTG-related disorder
RS368479692 JUP Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Naxos disease
RS368480443 KCNT1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14
RS368480491 COL4A3 Health Risk Conflicting classifications of pathogenicity —
RS368480650 CACNA1A Health Risk Conflicting classifications of pathogenicity Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS368481360 TSC1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 1
RS368481619 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS368481955 PRX Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Tip-toe gait
RS368482584 ADAMTSL4 Health Risk Pathogenic/Likely pathogenic Ectopia lentis 2, isolated
RS368482631 SPTAN1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 5
RS368484176 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS368484783 EFHC2 Health Risk Conflicting classifications of pathogenicity —
RS368486032 CHD2 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS368486097 BCS1L Health Risk Pathogenic/Likely pathogenic GRACILE syndrome, Mitochondrial complex III deficiency nuclear type 1
RS368486676 WT1 Health Risk Conflicting classifications of pathogenicity Wilms tumor 1, 11p partial monosomy syndrome
RS368487831 PLA2G6 Health Risk Conflicting classifications of pathogenicity Infantile neuroaxonal dystrophy, Infantile neuroaxonal dystrophy
RS368488157 ECEL1 Health Risk Conflicting classifications of pathogenicity —
RS368488165 OPA1 Health Risk Conflicting classifications of pathogenicity —
RS368488233 COL11A2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS368488511 DUOX2 Health Risk Conflicting classifications of pathogenicity Thyroid dyshormonogenesis 6, Thyroid dyshormonogenesis 6
RS368488821 BARD1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS368489295 TH Health Risk Conflicting classifications of pathogenicity Autosomal recessive DOPA responsive dystonia, Autosomal recessive DOPA responsive dystonia
RS368489465 RTTN Health Risk Conflicting classifications of pathogenicity —
RS368489658 RDH12 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa, Leber congenital amaurosis 13
RS368489793 MYBPC3 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Hypertrophic cardiomyopathy
RS368489876 GATA4 Health Risk Pathogenic Ventricular septal defect 1, Atrioventricular septal defect 4
RS368491231 RAD54L Health Risk Likely pathogenic Premature ovarian failure, Premature ovarian failure
RS368492235 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma
RS368492669 GAA Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type II
RS368494148 SACS Health Risk Conflicting classifications of pathogenicity Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS368496010 CLPB Health Risk Pathogenic 3-methylglutaconic aciduria, type VIIB
RS368496044 SETD1A Health Risk Conflicting classifications of pathogenicity Epilepsy, early-onset
RS368497021 ADGRV1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2C, Usher syndrome type 2C
RS368497893 PLA2G6 Health Risk Pathogenic/Likely pathogenic Infantile neuroaxonal dystrophy, Neurodegeneration with brain iron accumulation 2B
RS368498747 GDF6 Health Risk Conflicting classifications of pathogenicity Klippel-Feil syndrome 1, autosomal dominant
RS368499795 GLI3 Health Risk Conflicting classifications of pathogenicity Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome
RS368500877 LYST Health Risk Conflicting classifications of pathogenicity Chédiak-Higashi syndrome, Inborn genetic diseases
RS368500945 TRPM4 Health Risk Conflicting classifications of pathogenicity Progressive familial heart block type IB, Cardiovascular phenotype
RS368502112 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS368502650 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS368504008 CLCNKB Health Risk Pathogenic/Likely pathogenic Bartter disease type 3, Bartter disease type 4B
RS368504986 RIPOR2 Health Risk Conflicting classifications of pathogenicity —
RS368506553 MYO5B Health Risk Conflicting classifications of pathogenicity Congenital microvillous atrophy, Congenital microvillous atrophy
RS368506746 UBA1 Health Risk Conflicting classifications of pathogenicity Infantile-onset X-linked spinal muscular atrophy, Infantile-onset X-linked spinal muscular atrophy
RS368506826 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group A
RS368506842 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Familial thoracic aortic aneurysm and aortic dissection
RS368507062 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex with nail dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2Q
RS368507270 ATR Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS368507376 KCNQ1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome
RS368507952 MC1R Health Risk Conflicting classifications of pathogenicity Melanoma, cutaneous malignant
RS368509876 SLC12A3 Health Risk Conflicting classifications of pathogenicity Familial hypokalemia-hypomagnesemia, Inborn genetic diseases
RS368509953 MYLK Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 7
RS368511164 PRMT7 Health Risk Conflicting classifications of pathogenicity Short stature-brachydactyly-obesity-global developmental delay syndrome, Short stature-brachydactyly-obesity-global developmental delay syndrome
RS368512197 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS368512324 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
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