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
RS767971429 SAMHD1 Health Risk Conflicting classifications of pathogenicity Aicardi-Goutieres syndrome 5, Aicardi Goutieres syndrome
RS767971569 CETP Health Risk Conflicting classifications of pathogenicity Hyperalphalipoproteinemia 1, Hyperalphalipoproteinemia 1
RS767971610 COL3A1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Ehlers-Danlos syndrome
RS767973202 KMT2B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS767973616 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS767974412 OTOA Health Risk Conflicting classifications of pathogenicity OTOA-related disorder, OTOA-related disorder
RS767978562 FREM2 Health Risk Pathogenic/Likely pathogenic 8 conditions, Fraser syndrome 1
RS767978786 MYO15A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS767978961 CRPPA Health Risk Pathogenic/Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A
RS767979763 DSG2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 10, Cardiovascular phenotype
RS767979912 RSPH3 Health Risk Pathogenic Primary ciliary dyskinesia 32, Primary ciliary dyskinesia 32
RS767980504 PNKP Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 12
RS767981230 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS767981368 PKLR Health Risk Conflicting classifications of pathogenicity PKLR-related disorder, PKLR-related disorder
RS767983383 NSUN2 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS767983460 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS767983680 CACNA1H Health Risk Conflicting classifications of pathogenicity Abnormal brain morphology, Abnormal brain morphology
RS767983922 IMPG1 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS767984903 KCTD7 Health Risk Conflicting classifications of pathogenicity Progressive myoclonic epilepsy type 3, Progressive myoclonic epilepsy type 3
RS767986025 FN1 Health Risk Conflicting classifications of pathogenicity Spondylometaphyseal dysplasia - Sutcliffe type, Glomerulopathy with fibronectin deposits 2
RS767987501 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS767987619 PKP2 Health Risk Pathogenic/Likely pathogenic Arrhythmogenic right ventricular dysplasia 9, Cardiovascular phenotype
RS767987790 PEX13 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 11A (Zellweger), Peroxisome biogenesis disorder 11A (Zellweger)
RS767987856 ECEL1 Health Risk Pathogenic Distal arthrogryposis type 5D, Distal arthrogryposis type 5D
RS767988210 ZBTB11 Health Risk Pathogenic Intellectual developmental disorder, autosomal recessive 69
RS767988985 HLCS Health Risk Conflicting classifications of pathogenicity Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
RS767989671 PIKFYVE Health Risk Conflicting classifications of pathogenicity Fleck corneal dystrophy, Inborn genetic diseases
RS767990110 COL1A2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, arthrochalasia type
RS767990371 KBTBD13 Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 6, Inborn genetic diseases
RS767990486 VPS13C Health Risk Pathogenic —
RS767990522 DDC Health Risk Conflicting classifications of pathogenicity Deficiency of aromatic-L-amino-acid decarboxylase, Deficiency of aromatic-L-amino-acid decarboxylase
RS767990727 SETX Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia
RS767991179 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS767991627 CTC1 Health Risk Pathogenic Dyskeratosis congenita, Dyskeratosis congenita
RS767991810 COPA Health Risk Conflicting classifications of pathogenicity Autoimmune interstitial lung disease-arthritis syndrome, Inborn genetic diseases
RS767992609 ABL1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS767994393 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 7
RS767994904 CNGA1 Health Risk Likely pathogenic Retinitis pigmentosa 49, Retinitis pigmentosa 49
RS767995260 BMPR1A Health Risk Conflicting classifications of pathogenicity Juvenile polyposis syndrome, Hereditary cancer-predisposing syndrome
RS767996020 PPP2R5D Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS767996373 SLC26A2 Health Risk Pathogenic Achondrogenesis, type IB
RS767997025 IFT140 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Inborn genetic diseases
RS767997887 KMT2B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS767998637 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS767999305 TOP3A Health Risk Pathogenic —
RS767999682 TMEM67 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 6, Meckel syndrome
RS768001441 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS768002030 ODAD2 Health Risk Pathogenic Primary ciliary dyskinesia 23, Primary ciliary dyskinesia 23
RS768002493 PKLR Health Risk Conflicting classifications of pathogenicity Pyruvate kinase deficiency of red cells, PKLR-related disorder
RS768003104 DMXL2 Health Risk Conflicting classifications of pathogenicity —
RS768003309 COL4A4 Health Risk Pathogenic/Likely pathogenic Autosomal recessive Alport syndrome, Alport syndrome
RS768003361 LZTR1 Health Risk Conflicting classifications of pathogenicity —
RS768003944 LGI1 Health Risk Conflicting classifications of pathogenicity Epilepsy, familial temporal lobe
RS768005049 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS768005050 POLG Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS768006278 GFM1 Health Risk Likely pathogenic Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1, Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
RS768006618 FANCM Health Risk Pathogenic Fanconi anemia, Spermatogenic failure 28
RS768006727 LINS1 Health Risk Likely pathogenic Intellectual disability, autosomal recessive 27
RS768006988 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS768007208 FKRP Health Risk Conflicting classifications of pathogenicity Walker-Warburg congenital muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2I
RS768007725 CYP11B1 Health Risk Likely pathogenic —
RS768008924 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS768010078 BLM Health Risk Conflicting classifications of pathogenicity Bloom syndrome, Hereditary cancer-predisposing syndrome
RS768010410 EYA4 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1J, Autosomal dominant nonsyndromic hearing loss 10
RS768011609 FIG4 Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS768012126 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS768012515 ARSB Health Risk Pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS768013849 ARID1B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS768014052 IQCB1 Health Risk Likely pathogenic Nephronophthisis, Melanoma
RS768014298 CHD7 Health Risk Conflicting classifications of pathogenicity Hypogonadotropic hypogonadism 5 with or without anosmia, CHARGE syndrome
RS768015104 CACNA1S Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to
RS768015419 ELP1 Health Risk Pathogenic/Likely pathogenic ELP1-Associated Medulloblastoma, ELP1-Associated Medulloblastoma
RS768015966 PJVK Health Risk Pathogenic —
RS768016015 IFT81 Health Risk Pathogenic —
RS768017043 HBA1 Health Risk Conflicting classifications of pathogenicity alpha Thalassemia, alpha Thalassemia
RS768017182 AP5Z1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 48, Hereditary spastic paraplegia 48
RS768017509 ABCC8 Health Risk Conflicting classifications of pathogenicity Hyperinsulinemic hypoglycemia, familial
RS768017689 SPEG Health Risk Conflicting classifications of pathogenicity Myopathy, centronuclear
RS768017869 NGLY1 Health Risk Conflicting classifications of pathogenicity Congenital disorder of deglycosylation, Congenital disorder of deglycosylation
RS768019203 GGCX Health Risk Likely pathogenic Vitamin K-dependent clotting factors, combined deficiency of
RS768019354 ABCG5 Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS768019897 SAMHD1 Health Risk Pathogenic/Likely pathogenic Aicardi-Goutieres syndrome 5, Chilblain lupus 2
RS768020954 DPYD Health Risk Likely pathogenic Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency
RS768021123 PMM2 Health Risk Pathogenic PMM2-congenital disorder of glycosylation, PMM2-related disorder
RS768022031 GNB5 Health Risk Pathogenic Gnb5-related intellectual disability-cardiac arrhythmia syndrome, GNB5-related disorder
RS768022353 RTTN Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS768022787 PRX Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4F, Charcot-Marie-Tooth disease
RS768023673 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS768024233 ATM Health Risk Pathogenic/Likely pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS768024598 VDR Health Risk Conflicting classifications of pathogenicity Vitamin D-dependent rickets type II with alopecia, Vitamin D-dependent rickets type II with alopecia
RS768024997 F13A1 Health Risk Conflicting classifications of pathogenicity Factor XIII, A subunit
RS768026366 AKAP9 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS768027510 GDF1 Health Risk Pathogenic/Likely pathogenic Congenital heart defects, multiple types
RS768028061 SPATA7 Health Risk Pathogenic Leber congenital amaurosis, Leber congenital amaurosis
RS768028181 ARSA Health Risk Pathogenic Metachromatic leukodystrophy, ARSA-related disorder
RS768028898 SZT2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS768029221 MPI Health Risk Conflicting classifications of pathogenicity MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation
RS768029717 NAA20 Health Risk Pathogenic Intellectual developmental disorder, autosomal recessive 73
RS768029813 SOD1 Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 1, Amyotrophic lateral sclerosis type 1
RS768029820 WFS1 Health Risk Conflicting classifications of pathogenicity Type 2 diabetes mellitus, Wolfram syndrome 1
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