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
RS377767346 SMAD4 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
RS377767347 SMAD4 Health Risk Pathogenic/Likely pathogenic Juvenile polyposis syndrome, Carcinoma of pancreas
RS377767348 SMAD4 Health Risk Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Hereditary cancer-predisposing syndrome
RS377767349 SMAD4 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS377767350 SMAD4 Health Risk Likely pathogenic Juvenile polyposis syndrome, Juvenile polyposis syndrome
RS377767353 SMAD4 Health Risk Pathogenic/Likely pathogenic Juvenile polyposis syndrome, Hereditary cancer-predisposing syndrome
RS377767354 SMAD4 Health Risk Likely pathogenic Juvenile polyposis syndrome, Juvenile polyposis syndrome
RS377767355 SMAD4 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Juvenile polyposis syndrome
RS377767357 SMAD4 Health Risk Pathogenic Juvenile polyposis syndrome, Juvenile polyposis syndrome
RS377767358 SMAD4 Health Risk Pathogenic Juvenile polyposis syndrome, Juvenile polyposis syndrome
RS377767360 SMAD4 Health Risk Pathogenic Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, Gallbladder cancer
RS377767363 SMAD4 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS377767371 SMAD4 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Hereditary cancer-predisposing syndrome
RS377767373 SMAD4 Health Risk Pathogenic/Likely pathogenic Juvenile polyposis syndrome, Hereditary cancer-predisposing syndrome
RS377767376 SMAD4 Health Risk Pathogenic Juvenile polyposis syndrome, Juvenile polyposis syndrome
RS377767379 SMAD4 Health Risk Pathogenic Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
RS377767382 SMAD4 Health Risk Likely pathogenic Juvenile polyposis syndrome, Juvenile polyposis syndrome
RS377767383 SMAD4 Health Risk Pathogenic Juvenile polyposis syndrome, Juvenile polyposis syndrome
RS377767385 SMAD4 Health Risk Pathogenic Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
RS377767386 SMAD4 Health Risk Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Hereditary cancer-predisposing syndrome
RS377767388 RET Health Risk Conflicting classifications of pathogenicity Medullary thyroid carcinoma, Multiple endocrine neoplasia
RS377767390 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS377767391 RET Health Risk Pathogenic/Likely pathogenic Multiple endocrine neoplasia, type 2
RS377767392 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia type 2A, Multiple endocrine neoplasia
RS377767395 RET Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia
RS377767396 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS377767397 RET Health Risk Pathogenic Multiple endocrine neoplasia, type 2
RS377767398 RET Health Risk Pathogenic Multiple endocrine neoplasia, type 2
RS377767399 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS377767402 RET Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia type 2A
RS377767404 RET Health Risk Likely pathogenic Multiple endocrine neoplasia, type 2
RS377767405 RET Health Risk Likely pathogenic Multiple endocrine neoplasia, type 2
RS377767406 RET Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia
RS377767407 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia type 2A, Multiple endocrine neoplasia type 2B
RS377767409 RET Health Risk Pathogenic Multiple endocrine neoplasia, type 2
RS377767411 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS377767412 RET Health Risk Pathogenic/Likely pathogenic 6 conditions, Multiple endocrine neoplasia
RS377767416 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS377767417 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia type 2A, Multiple endocrine neoplasia type 2B
RS377767420 RET Health Risk Conflicting classifications of pathogenicity Medullary thyroid carcinoma, Multiple endocrine neoplasia type 2B
RS377767422 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS377767426 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS377767429 RET Health Risk Pathogenic/Likely pathogenic Multiple endocrine neoplasia type 2B, Multiple endocrine neoplasia
RS377767432 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia type 2A, Hereditary cancer-predisposing syndrome
RS377767433 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia type 2A, Hereditary cancer-predisposing syndrome
RS377767434 RET Health Risk Pathogenic Familial medullary thyroid carcinoma, Familial medullary thyroid carcinoma
RS377767436 RET Health Risk Pathogenic MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA
RS377767440 RET Health Risk Likely pathogenic Multiple endocrine neoplasia, type 2
RS377767442 RET Health Risk Pathogenic/Likely pathogenic Multiple endocrine neoplasia, type 2
RS377767443 SLC22A5 Health Risk Pathogenic Renal carnitine transport defect, Renal carnitine transport defect
RS377767444 SLC22A5 Health Risk Pathogenic Renal carnitine transport defect, Renal carnitine transport defect
RS377767445 SLC22A5 Health Risk Conflicting classifications of pathogenicity Renal carnitine transport defect, Renal carnitine transport defect
RS377767447 SLC22A5 Health Risk Pathogenic Renal carnitine transport defect, Renal carnitine transport defect
RS377767449 SLC22A5 Health Risk Pathogenic Renal carnitine transport defect, Decreased circulating carnitine concentration
RS377767450 SLC22A5 Health Risk Conflicting classifications of pathogenicity Renal carnitine transport defect, Renal carnitine transport defect
RS3778142 LAMA2 Health Risk Conflicting classifications of pathogenicity Congenital muscular dystrophy due to partial LAMA2 deficiency, LAMA2-related muscular dystrophy
RS3782356 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome 1, Kabuki syndrome
RS3788853 XPNPEP2 Health Risk risk factor Susceptibility to angioedema induced by ACE inhibitors, Susceptibility to angioedema induced by ACE inhibitors
RS3792267 CAPN10 Health Risk risk factor Type 2 diabetes mellitus 1, susceptibility to
RS3792876 SLC22A4 Health Risk risk factor Rheumatoid arthritis, Rheumatoid arthritis
RS3794105 CD44 Health Risk association Nephrolithiasis, calcium oxalate
RS3794109 CD44 Health Risk association Nephrolithiasis, calcium oxalate
RS3794110 CD44 Health Risk association Nephrolithiasis, calcium oxalate
RS3795339 KCNJ10 Health Risk Conflicting classifications of pathogenicity EAST syndrome, Autosomal recessive nonsyndromic hearing loss 4
RS3796241 CLRN1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 3, Usher syndrome type 3A
RS3796619 RNF212 Health Risk association RECOMBINATION RATE QUANTITATIVE TRAIT LOCUS 1, RECOMBINATION RATE QUANTITATIVE TRAIT LOCUS 1
RS3797704 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Carcinoma of colon
RS3801237 CDK13 Health Risk Conflicting classifications of pathogenicity Congenital heart defects, dysmorphic facial features
RS3804099 TLR2 Health Risk Conflicting classifications of pathogenicity TLR2-related disorder, COVID-19–associated multisystem inflammatory syndrome in adults
RS3804100 TLR2 Health Risk Conflicting classifications of pathogenicity TLR2-related disorder, COVID-19–associated multisystem inflammatory syndrome in adults
RS3809624 TBX6 Health Risk Conflicting classifications of pathogenicity —
RS3809627 TBX6 Health Risk Conflicting classifications of pathogenicity Spondylocostal dysostosis 5, Spondylocostal dysostosis 5
RS3810141 BCAM Health Risk Pathogenic BLOOD GROUP--LUTHERAN NULL, BLOOD GROUP--LUTHERAN NULL
RS3810796 TBC1D24 Health Risk Conflicting classifications of pathogenicity Familial infantile myoclonic epilepsy, Autosomal dominant nonsyndromic hearing loss 65
RS3812597 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS3813227 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS3813244 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS3813249 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS381418 GBA1 Health Risk Pathogenic/Likely pathogenic Gaucher disease type I, Gaucher disease type II
RS3814182 MYPN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1KK, Cardiovascular phenotype
RS381427 GBA1 Health Risk Pathogenic Gaucher disease, Gaucher disease
RS381737 GBA1 Health Risk Pathogenic/Likely pathogenic Gaucher disease type III, Gaucher disease type II
RS3818903 SMC3 Health Risk Conflicting classifications of pathogenicity Cornelia de Lange syndrome 3, Cornelia de Lange syndrome 3
RS3819330 FLNA Health Risk Conflicting classifications of pathogenicity Oto-palato-digital syndrome, type II
RS3821204 IL1RL1 Health Risk association Ascending aortic dissection, Ascending aortic dissection
RS3821945 WFS1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 6, WFS1-Related Spectrum Disorders
RS3822214 KIT Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS3822294 HADH Health Risk Conflicting classifications of pathogenicity Hyperinsulinemic hypoglycemia, familial
RS3824553 GALT Health Risk Conflicting classifications of pathogenicity Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
RS3825942 LOXL1 Health Risk Benign; risk factor Exfoliation syndrome, susceptibility to
RS3826784 EIF3G Health Risk association Cataplexy and narcolepsy, Cataplexy and narcolepsy
RS3827075 SLC4A11 Health Risk Conflicting classifications of pathogenicity Corneal dystrophy, Corneal dystrophy-perceptive deafness syndrome
RS3829241 TPCN2 Health Risk association SKIN/HAIR/EYE PIGMENTATION, VARIATION IN
RS3830014 HPS1 Health Risk Conflicting classifications of pathogenicity Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome
RS3831942 KCNN3 Health Risk Conflicting classifications of pathogenicity Zimmermann-Laband syndrome 3, Zimmermann-Laband syndrome 3
RS3832024 FMO3 Health Risk Pathogenic Trimethylaminuria, Trimethylaminuria
RS3832095 HOXD13 Health Risk Conflicting classifications of pathogenicity Brachydactyly-syndactyly syndrome, Brachydactyly-syndactyly syndrome
RS3832799 ASCL1 Health Risk Conflicting classifications of pathogenicity ASCL1-related disorder, ASCL1-related disorder
RS3833150 CACNA1G Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia 42, early-onset
RS3833180 CTDP1 Health Risk Conflicting classifications of pathogenicity —
« Prev 1 ... 2787 2788 2789 2790 2791 2792 2793 ... 4509 Next »

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

Get Started Free →