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
RS749753740 CACNA1C Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS74975380 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS749753832 ACP5 Health Risk Pathogenic Spondyloenchondrodysplasia with immune dysregulation, Spondyloenchondrodysplasia with immune dysregulation
RS749753913 COL4A4 Health Risk Conflicting classifications of pathogenicity Alport syndrome, Hematuria
RS749754226 SPTA1 Health Risk Pathogenic/Likely pathogenic Lysinuric protein intolerance, Lysinuric protein intolerance
RS749754621 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS749755436 COL9A1 Health Risk Pathogenic —
RS749757968 CHRND Health Risk Conflicting classifications of pathogenicity Lethal multiple pterygium syndrome, Lethal multiple pterygium syndrome
RS749758687 MMAB Health Risk Pathogenic/Likely pathogenic Methylmalonic aciduria, cblB type
RS749758787 FLCN Health Risk Conflicting classifications of pathogenicity Birt-Hogg-Dube syndrome, Familial spontaneous pneumothorax
RS749759208 TGM1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive congenital ichthyosis 1, Autosomal recessive congenital ichthyosis 1
RS749759697 KCNH2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiac arrhythmia
RS749761941 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS749762155 BUB1B Health Risk Pathogenic Mosaic variegated aneuploidy syndrome 1, Mosaic variegated aneuploidy syndrome 1
RS749762628 KMT2B Health Risk Conflicting classifications of pathogenicity KMT2B-related disorder, KMT2B-related disorder
RS749762818 CLCN1 Health Risk Conflicting classifications of pathogenicity Congenital myotonia, autosomal recessive form
RS749762964 BRIP1 Health Risk Pathogenic Familial cancer of breast, Fanconi anemia complementation group J
RS749765328 MYL2 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 10, Cardiomyopathy
RS749765413 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Familial thoracic aortic aneurysm and aortic dissection
RS749765738 MTHFR Health Risk Pathogenic/Likely pathogenic Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Neural tube defects
RS749765817 POLG Health Risk Likely pathogenic Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS749766354 VPS13C Health Risk Likely pathogenic Autosomal recessive early-onset Parkinson disease 23, Autosomal recessive early-onset Parkinson disease 23
RS749766704 IFT172 Health Risk Conflicting classifications of pathogenicity Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71
RS749767284 SON Health Risk Conflicting classifications of pathogenicity —
RS749768205 PKHD1 Health Risk Likely pathogenic Polycystic kidney disease 4, Polycystic kidney disease 4
RS749768274 SPTAN1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 5
RS749768828 NDE1 Health Risk Pathogenic Lissencephaly 4, NDE1-related disorder
RS749769237 ADGRV1 Health Risk Pathogenic/Likely pathogenic —
RS749769689 FERMT3 Health Risk Conflicting classifications of pathogenicity Leukocyte adhesion deficiency 3, Leukocyte adhesion deficiency 3
RS749769834 MAK Health Risk Likely pathogenic —
RS749769987 PRX Health Risk Likely pathogenic —
RS749770110 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS749770193 FLCN Health Risk Conflicting classifications of pathogenicity Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome
RS749771909 FOXP1 Health Risk Conflicting classifications of pathogenicity —
RS74977201 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group A
RS749774529 VHL Health Risk Conflicting classifications of pathogenicity Chuvash polycythemia, Von Hippel-Lindau syndrome
RS749776323 TULP1 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS749776448 LDB3 Health Risk Conflicting classifications of pathogenicity Myofibrillar myopathy 4, Cardiovascular phenotype
RS749776633 NLGN1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Autism
RS749778569 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS749779208 NPHS2 Health Risk Pathogenic Nephrotic syndrome, type 2
RS749779829 MEI1 Health Risk Likely pathogenic Hydatidiform mole, recurrent
RS749780672 LDLR Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS749780677 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS749780769 SMPD1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type A
RS749780816 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS749780872 BMPR1A Health Risk Conflicting classifications of pathogenicity Juvenile polyposis syndrome, Hereditary cancer-predisposing syndrome
RS749781307 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome
RS749781761 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Inborn genetic diseases
RS749782426 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS749782882 ROGDI Health Risk Conflicting classifications of pathogenicity Amelocerebrohypohidrotic syndrome, Amelocerebrohypohidrotic syndrome
RS749783672 BBS9 Health Risk Pathogenic Bardet-Biedl syndrome, BBS9-related disorder
RS749783719 CREBBP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, CREBBP-related disorder
RS749783824 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Kabuki syndrome 1
RS749784668 AUTS2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Autism spectrum disorder due to AUTS2 deficiency
RS749785358 TRIO Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome
RS749785521 HCN4 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Brugada syndrome 8
RS749785657 TTC8 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 51, Bardet-Biedl syndrome 8
RS749786734 NOTCH1 Health Risk Pathogenic Adams-Oliver syndrome 5, Adams-Oliver syndrome 5
RS749787793 COG5 Health Risk Pathogenic COG5-congenital disorder of glycosylation, COG5-congenital disorder of glycosylation
RS749788045 COL7A1 Health Risk Likely pathogenic 7 conditions, 7 conditions
RS749788626 ASL Health Risk Conflicting classifications of pathogenicity Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
RS749789031 ZXDA Health Risk Conflicting classifications of pathogenicity —
RS749789077 TBXAS1 Health Risk Pathogenic —
RS749790557 KCNC1 Health Risk Conflicting classifications of pathogenicity Progressive myoclonic epilepsy type 7, Inborn genetic diseases
RS749791114 HPS6 Health Risk Likely pathogenic HPS6-related disorder, HPS6-related disorder
RS749792302 BRAF Health Risk Conflicting classifications of pathogenicity RASopathy, Cardiovascular phenotype
RS749792884 TPM3 Health Risk Conflicting classifications of pathogenicity Congenital myopathy 4B, autosomal recessive
RS749794799 LAMA2 Health Risk Conflicting classifications of pathogenicity LAMA2-related muscular dystrophy, Inborn genetic diseases
RS749794837 TTC21B Health Risk Pathogenic Jeune thoracic dystrophy, Nephronophthisis
RS74979486 GBA1 Health Risk Pathogenic/Likely pathogenic Gaucher disease, Gaucher disease
RS749795455 VCAN Health Risk Conflicting classifications of pathogenicity Wagner disease, Vitreoretinopathy
RS749796906 LOX Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Aortic aneurysm
RS749797580 LAMA2 Health Risk Likely pathogenic Merosin deficient congenital muscular dystrophy, Merosin deficient congenital muscular dystrophy
RS749798053 TMPRSS3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 8, Autosomal recessive nonsyndromic hearing loss 8
RS749798211 ATP13A2 Health Risk Conflicting classifications of pathogenicity Kufor-Rakeb syndrome, Autosomal recessive spastic paraplegia type 78
RS749798782 PEX6 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder, Peroxisome biogenesis disorder
RS749799203 TTC5 Health Risk Pathogenic Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism, Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism
RS749799634 NPHP4 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Nephronophthisis
RS749799663 POLG Health Risk Pathogenic Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS749799824 RPGR Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS749800577 KCNH1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS749800625 FGD1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS749801457 MED12 Health Risk Conflicting classifications of pathogenicity FG syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS749801652 CFAP410 Health Risk Likely pathogenic —
RS749802895 FANCI Health Risk Likely pathogenic Fanconi anemia complementation group I, Fanconi anemia complementation group I
RS749803238 ETHE1 Health Risk Pathogenic/Likely pathogenic Ethylmalonic encephalopathy, Ethylmalonic encephalopathy
RS749804502 POLK Health Risk Pathogenic Prostate cancer, Prostate cancer
RS749804569 CLMP Health Risk Likely pathogenic Congenital short bowel syndrome, autosomal recessive
RS749805135 EPCAM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Congenital diarrhea 5 with tufting enteropathy
RS749805168 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS749805695 EIF2AK4 Health Risk Pathogenic —
RS749806703 DSP Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiovascular phenotype
RS749807129 GLI3 Health Risk Conflicting classifications of pathogenicity Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome
RS749807465 STXBP1 Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS749807999 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS749809456 DEPDC5 Health Risk Conflicting classifications of pathogenicity Familial focal epilepsy with variable foci, Epilepsy
RS749810048 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS749810368 ABCC8 Health Risk Likely pathogenic —
RS749810821 DICER1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, DICER1-related tumor predisposition
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