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
RS753146898 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS753147277 KCNV2 Health Risk Conflicting classifications of pathogenicity —
RS753147923 RTEL1 Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, autosomal recessive 5
RS753148089 AFG3L2 Health Risk Likely pathogenic Spastic ataxia, Spastic ataxia
RS753148214 CDK5RAP2 Health Risk Conflicting classifications of pathogenicity Microcephaly 3, primary
RS753149023 ERCC4 Health Risk Pathogenic Cockayne syndrome, Xeroderma pigmentosum
RS753149983 EXOSC9 Health Risk Likely pathogenic —
RS753150990 AMT Health Risk Pathogenic Glycine encephalopathy, Glycine encephalopathy
RS753151119 HSPG2 Health Risk Conflicting classifications of pathogenicity —
RS753151479 TBX3 Health Risk Conflicting classifications of pathogenicity Ulnar-mammary syndrome, TBX3-related disorder
RS753152792 PTCH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Gorlin syndrome
RS753152908 EVC Health Risk Pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS753153576 PALB2 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS753156153 MEF2C Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with hypotonia, stereotypic hand movements
RS753156183 ALAS2 Health Risk Conflicting classifications of pathogenicity X-linked sideroblastic anemia 1, Inborn genetic diseases
RS753157401 KCNV2 Health Risk Pathogenic —
RS753159318 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS753159426 CHEK2 Health Risk Pathogenic/Likely pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS753159772 PEX5 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 2A (Zellweger), Peroxisome biogenesis disorder 2B
RS753160398 POLG Health Risk Pathogenic/Likely pathogenic Progressive sclerosing poliodystrophy, Mitochondrial DNA depletion syndrome
RS753160480 BLM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Bloom syndrome
RS753161047 SH3PXD2B Health Risk Pathogenic SH3PXD2B-related disorder, SH3PXD2B-related disorder
RS753161584 JAG1 Health Risk Conflicting classifications of pathogenicity Alagille syndrome due to a JAG1 point mutation, JAG1-related disorder
RS753161669 A2ML1 Health Risk Conflicting classifications of pathogenicity —
RS753161833 SLC2A1 Health Risk Pathogenic/Likely pathogenic GLUT1 deficiency syndrome 1, autosomal recessive
RS753162027 COL3A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, type 4
RS753162147 SCN4A Health Risk Conflicting classifications of pathogenicity Hyperkalemic periodic paralysis, 7 conditions
RS753162734 IFT81 Health Risk Pathogenic —
RS753166836 LAMA3 Health Risk Pathogenic —
RS753167856 TTN Health Risk Conflicting classifications of pathogenicity 6 conditions, 6 conditions
RS753168111 TMPRSS15 Health Risk Pathogenic —
RS753168128 ATP10A Health Risk association Autism spectrum disorder, Autism spectrum disorder
RS753168686 DEAF1 Health Risk Likely pathogenic Intellectual disability-epilepsy-extrapyramidal syndrome, Intellectual disability-epilepsy-extrapyramidal syndrome
RS753169961 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Inborn genetic diseases
RS753170095 SLC16A2 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Spastic paraplegia
RS753170185 NOTCH3 Health Risk Conflicting classifications of pathogenicity Cerebral arteriopathy, autosomal dominant
RS753170188 LCT Health Risk Pathogenic —
RS753171481 FLNB Health Risk Conflicting classifications of pathogenicity —
RS753171921 INPPL1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS753172610 MPLKIP Health Risk Pathogenic —
RS753172645 CNGB1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS753173299 PTPN11 Health Risk Conflicting classifications of pathogenicity RASopathy, Noonan syndrome and Noonan-related syndrome
RS753173837 CFTR Health Risk Conflicting classifications of pathogenicity CFTR-related disorder, Cystic fibrosis
RS753175584 RYR2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 2, Catecholaminergic polymorphic ventricular tachycardia 1
RS753175954 DNM2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Charcot-Marie-Tooth disease dominant intermediate B
RS753176482 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Miyoshi muscular dystrophy 1
RS753179691 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Catecholaminergic polymorphic ventricular tachycardia 1
RS753179766 FANCM Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS753179817 TSC2 Health Risk Pathogenic —
RS753180214 MKKS Health Risk Pathogenic/Likely pathogenic McKusick-Kaufman syndrome, Bardet-Biedl syndrome
RS753181427 PYGM Health Risk Likely pathogenic Glycogen storage disease, type V
RS753182165 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS753182861 ERCC3 Health Risk Pathogenic/Likely pathogenic Xeroderma pigmentosum, Xeroderma pigmentosum group B
RS753182877 SEC63 Health Risk Likely pathogenic Polycystic liver disease 2, Polycystic liver disease 2
RS753183777 COL11A2 Health Risk Conflicting classifications of pathogenicity —
RS753184200 DCHS1 Health Risk Conflicting classifications of pathogenicity —
RS753184491 RARS2 Health Risk Likely pathogenic Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS753184709 TGFBR2 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Malignant tumor of esophagus
RS753185316 HPS3 Health Risk Pathogenic Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome 3
RS753185460 COL7A1 Health Risk Pathogenic Epidermolysis bullosa dystrophica, Epidermolysis bullosa dystrophica
RS753185936 DRP2 Health Risk Likely pathogenic —
RS753186530 A2ML1 Health Risk Conflicting classifications of pathogenicity —
RS753188505 TUBGCP6 Health Risk Pathogenic —
RS753188664 INF2 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E
RS753189381 NF1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Neurofibromatosis
RS753191662 OSTM1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive osteopetrosis 5, Autosomal recessive osteopetrosis 5
RS753192557 TYRP1 Health Risk Pathogenic/Likely pathogenic —
RS753192734 NEB Health Risk Pathogenic Nemaline myopathy 2, Arthrogryposis multiplex congenita 6
RS753192876 TBX1 Health Risk Conflicting classifications of pathogenicity Tetralogy of Fallot, Cardiovascular phenotype
RS753193082 FGFR1 Health Risk Likely pathogenic —
RS753195130 OFD1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Orofaciodigital syndrome I
RS753195267 LOXHD1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 77, Autosomal recessive nonsyndromic hearing loss 77
RS753195502 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
RS753195550 PCCA Health Risk Conflicting classifications of pathogenicity Propionic acidemia, Inborn genetic diseases
RS753196209 NBAS Health Risk Conflicting classifications of pathogenicity Short stature-optic atrophy-Pelger-Huët anomaly syndrome, Infantile liver failure syndrome 2
RS753196787 CACNA1A Health Risk Conflicting classifications of pathogenicity Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS753196985 TPM1 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 3
RS753197543 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS753198836 GAMT Health Risk Likely pathogenic Cerebral creatine deficiency syndrome, Deficiency of guanidinoacetate methyltransferase
RS753199796 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS753200685 NTHL1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS753201154 CHRNA4 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy, Inborn genetic diseases
RS753202682 DCLRE1C Health Risk Conflicting classifications of pathogenicity Severe combined immunodeficiency due to DCLRE1C deficiency, Athabaskan severe combined immunodeficiency
RS753202898 BIN1 Health Risk Conflicting classifications of pathogenicity Myopathy, centronuclear
RS753203288 GRIN2A Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Intellectual disability
RS753205026 STXBP2 Health Risk Pathogenic Familial hemophagocytic lymphohistiocytosis 5, Familial hemophagocytic lymphohistiocytosis 5
RS753205129 CARD11 Health Risk Conflicting classifications of pathogenicity Severe combined immunodeficiency due to CARD11 deficiency, BENTA disease
RS753205260 SACS Health Risk Pathogenic Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS753205769 KRT10 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS753205954 ARID1A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS753206337 POU3F4 Health Risk Likely pathogenic X-linked mixed hearing loss with perilymphatic gusher, X-linked mixed hearing loss with perilymphatic gusher
RS753207004 GJB1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease X-linked dominant 1, Charcot-Marie-Tooth disease X-linked dominant 1
RS753207020 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS753207473 FIG4 Health Risk Pathogenic Amyotrophic lateral sclerosis type 11, Charcot-Marie-Tooth disease type 4J
RS753208767 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Inborn genetic diseases
RS753209586 APC Health Risk Conflicting classifications of pathogenicity APC-Associated Polyposis Disorders, Hereditary cancer-predisposing syndrome
RS753210097 GPC3 Health Risk Likely pathogenic Simpson-Golabi-Behmel syndrome type 1, Simpson-Golabi-Behmel syndrome type 1
RS75321043 MUTYH Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS753210939 BPTF Health Risk Likely pathogenic Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies, Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies
RS753211165 YARS1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease dominant intermediate C, Neurologic
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