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
RS35291173 ZNF335 Health Risk Conflicting classifications of pathogenicity ZNF335-related disorder, ZNF335-related disorder
RS35291591 HBB Health Risk Pathogenic; other HEMOGLOBIN MCKEES ROCKS, Erythrocytosis
RS35294392 SLC12A1 Health Risk Pathogenic —
RS35296328 PCDH15 Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 23, Autosomal recessive nonsyndromic hearing loss 23
RS35297901 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS35300056 SLC12A1 Health Risk Conflicting classifications of pathogenicity Bartter disease type 1, Bartter disease type 1
RS35301433 TG Health Risk Conflicting classifications of pathogenicity Iodotyrosyl coupling defect, Iodotyrosyl coupling defect
RS35302901 ROS1 Health Risk Likely pathogenic Male infertility with azoospermia or oligozoospermia due to single gene mutation, Male infertility with azoospermia or oligozoospermia due to single gene mutation
RS35306038 ATR Health Risk Conflicting classifications of pathogenicity Seckel syndrome 1, Seckel syndrome 1
RS35309576 USH2A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2A, Retinitis pigmentosa 39
RS35311343 TLR3 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 83, susceptibility to viral infections
RS35312232 TGM1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive congenital ichthyosis 1, Autosomal recessive congenital ichthyosis 1
RS35313315 MED17 Health Risk Conflicting classifications of pathogenicity Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly, Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
RS35313369 RTTN Health Risk Conflicting classifications of pathogenicity RTTN-related disorder, RTTN-related disorder
RS35315400 MYH14 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 4A, Inborn genetic diseases
RS35315829 IGF1R Health Risk Conflicting classifications of pathogenicity Growth delay due to insulin-like growth factor I resistance, Growth delay due to insulin-like growth factor I resistance
RS35321913 HBG1 Health Risk Pathogenic Hereditary persistence of fetal hemoglobin, Hereditary persistence of fetal hemoglobin
RS35324967 HBD Health Risk Pathogenic delta Thalassemia, delta Thalassemia
RS35327474 MBL2 Health Risk Conflicting classifications of pathogenicity Mannose-binding lectin deficiency, Mannose-binding lectin deficiency
RS35327842 RP1 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Inborn genetic diseases
RS35328027 HBB Health Risk Pathogenic BETA-PLUS-THALASSEMIA, beta Thalassemia
RS35328240 SFTPB Health Risk Pathogenic Surfactant metabolism dysfunction, pulmonary
RS35328937 LRRK2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant Parkinson disease 8, Autosomal dominant Parkinson disease 8
RS35329429 PRF1 Health Risk Likely pathogenic Aplastic anemia, Aplastic anemia
RS35330765 NUBPL Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 1
RS35331711 CP Health Risk Conflicting classifications of pathogenicity Deficiency of ferroxidase, CP-related disorder
RS35333334 GNPTAB Health Risk Pathogenic Pseudo-Hurler polydystrophy, Mucolipidosis type II
RS35334949 VLDLR Health Risk Conflicting classifications of pathogenicity —
RS35336155 USH1C Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1C, Usher syndrome type 1C
RS35337543 IFIH1 Health Risk Conflicting classifications of pathogenicity Singleton-Merten syndrome 1, Aicardi-Goutieres syndrome 7
RS35339834 VLDLR Health Risk Conflicting classifications of pathogenicity Cerebellar ataxia, intellectual disability
RS35343277 ITPR1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant cerebellar ataxia, Autosomal dominant cerebellar ataxia
RS35346077 RECQL4 Health Risk Conflicting classifications of pathogenicity Baller-Gerold syndrome, Hereditary cancer-predisposing syndrome
RS35346129 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Connective tissue disorder
RS35347543 LARS2 Health Risk Conflicting classifications of pathogenicity —
RS35348864 HBB Health Risk Pathogenic beta Thalassemia, Dominant beta-thalassemia
RS35350789 LMBRD1 Health Risk Pathogenic Methylmalonic aciduria and homocystinuria type cblF, Methylmalonic aciduria and homocystinuria type cblF
RS35350960 UGT1A1 Health Risk Conflicting classifications of pathogenicity Gilbert syndrome, Crigler-Najjar syndrome
RS35351128 HBB Health Risk Pathogenic; other HEMOGLOBIN VANDERBILT, Erythrocytosis
RS35351345 CLCNKB Health Risk Conflicting classifications of pathogenicity Nonpapillary renal cell carcinoma, Ovarian cancer
RS35353749 HBB Health Risk Pathogenic —
RS35353912 KDM5C Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Inborn genetic diseases
RS35355795 PEG3 Health Risk Conflicting classifications of pathogenicity —
RS35359501 WAS Health Risk Conflicting classifications of pathogenicity Wiskott-Aldrich syndrome, X-linked severe congenital neutropenia
RS353612 CD44 Health Risk association Nephrolithiasis, calcium oxalate
RS353618 CD44 Health Risk association Nephrolithiasis, calcium oxalate
RS35361862 POT1 Health Risk Conflicting classifications of pathogenicity Tumor predisposition syndrome 3, Hereditary cancer-predisposing syndrome
RS353623 CD44 Health Risk association Nephrolithiasis, calcium oxalate
RS353630 CD44 Health Risk association Nephrolithiasis, calcium oxalate
RS353637 CD44 Health Risk association Nephrolithiasis, calcium oxalate
RS353647 CD44 Health Risk association Nephrolithiasis, calcium oxalate
RS35369023 SACS Health Risk Conflicting classifications of pathogenicity Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS35369423 F5 Health Risk Conflicting classifications of pathogenicity Budd-Chiari syndrome, Factor V deficiency
RS35370270 FRAS1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS35371965 HBB Health Risk Pathogenic beta Thalassemia, beta Thalassemia
RS35373464 SFTPB Health Risk Conflicting classifications of pathogenicity Surfactant metabolism dysfunction, pulmonary
RS35378785 DSG4 Health Risk Conflicting classifications of pathogenicity Hypotrichosis 6, DSG4-related disorder
RS35378915 HBG1 Health Risk Pathogenic Sardinian HPFH, Greek HPFH
RS35379711 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS35382573 SCAPER Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, SCAPER-related disorder
RS35383271 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS35383398 HBB Health Risk Pathogenic Beta zero thalassemia, Hemoglobinopathy
RS35389822 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS35393416 COG5 Health Risk Conflicting classifications of pathogenicity COG5-congenital disorder of glycosylation, COG5-related disorder
RS35395625 HBB Health Risk Pathogenic Hemoglobinopathy, beta Thalassemia
RS35396083 CFTR Health Risk Pathogenic Cystic fibrosis, Cystic fibrosis
RS35398714 SLC24A1 Health Risk Conflicting classifications of pathogenicity Congenital stationary night blindness 1D, Inborn genetic diseases
RS35401252 TPM2 Health Risk Conflicting classifications of pathogenicity Arthrogryposis, distal
RS35401386 EVC Health Risk Conflicting classifications of pathogenicity Curry-Hall syndrome, Ellis-van Creveld syndrome
RS35403035 PKHD1 Health Risk Conflicting classifications of pathogenicity PKHD1-related disorder, Autosomal recessive polycystic kidney disease
RS35405661 DPF2 Health Risk Likely pathogenic Coffin-Siris syndrome 7, Coffin-Siris syndrome 7
RS35413340 LRP2 Health Risk Conflicting classifications of pathogenicity Donnai-Barrow syndrome, Donnai-Barrow syndrome
RS35414700 LPL Health Risk Pathogenic Hyperlipoproteinemia, type I
RS35417190 MBTPS1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, MBTPS1-related disorder
RS35417728 FRY Health Risk Conflicting classifications of pathogenicity —
RS35424040 HBB Health Risk Pathogenic HEMOGLOBIN KNOSSOS, BETA-PLUS-THALASSEMIA
RS35426017 GAD1 Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities, Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities
RS35428353 GPD1 Health Risk Conflicting classifications of pathogenicity Transient infantile hypertriglyceridemia and hepatosteatosis, GPD1-related disorder
RS35429253 B4GAT1 Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
RS35429535 MYO7A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 2, Usher syndrome type 1
RS35433680 IFT140 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Sarcoma
RS35434090 SLC25A15 Health Risk Conflicting classifications of pathogenicity Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome, Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
RS35434411 BAG3 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6
RS35436690 MYLK Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 7
RS35441257 ORC6 Health Risk Pathogenic/Likely pathogenic Meier-Gorlin syndrome 3, Meier-Gorlin syndrome 3
RS35441529 ARID1B Health Risk Pathogenic Coffin-Siris syndrome 1, ARID1B-related disorder
RS35442268 FBN3 Health Risk Conflicting classifications of pathogenicity FBN3-related disorder, FBN3-related disorder
RS35442324 DHTKD1 Health Risk Conflicting classifications of pathogenicity 2-aminoadipic 2-oxoadipic aciduria, Inborn genetic diseases
RS35447806 MYO3A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 30, MYO3A-related disorder
RS35448266 AMACR Health Risk Conflicting classifications of pathogenicity Alpha-methylacyl-CoA racemase deficiency, Alpha-methylacyl-CoA racemase deficiency
RS35449699 LOXHD1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 77, Autosomal recessive nonsyndromic hearing loss 77
RS35450031 KCNQ2 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS35456792 CDKN1B Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia type 4
RS35456885 HBB Health Risk Pathogenic Beta zero thalassemia, beta Thalassemia
RS35459559 HNRNPR Health Risk Pathogenic Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities, Inborn genetic diseases
RS35460901 KCND2 Health Risk Conflicting classifications of pathogenicity Early myoclonic encephalopathy, Inborn genetic diseases
RS35461188 ARMC5 Health Risk Likely pathogenic ACTH-independent macronodular adrenal hyperplasia 2, ACTH-independent macronodular adrenal hyperplasia 2
RS35462442 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS35469582 MET Health Risk Conflicting classifications of pathogenicity Papillary renal cell carcinoma type 1, Hereditary cancer-predisposing syndrome
RS35469724 LIG4 Health Risk Conflicting classifications of pathogenicity DNA ligase IV deficiency, Inborn genetic diseases
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