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
RS143456081 CPOX Health Risk Conflicting classifications of pathogenicity —
RS143456239 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS143456575 ABCB4 Health Risk Conflicting classifications of pathogenicity Progressive familial intrahepatic cholestasis type 1, Progressive familial intrahepatic cholestasis type 1
RS1434566381 CHD7 Health Risk Conflicting classifications of pathogenicity Hypogonadotropic hypogonadism 5 with or without anosmia, CHARGE syndrome
RS143456757 SEC23B Health Risk Conflicting classifications of pathogenicity Congenital dyserythropoietic anemia, type II
RS143456784 CFTR Health Risk Conflicting classifications of pathogenicity Cystic fibrosis, CFTR-related disorder
RS143456909 LTBP2 Health Risk Conflicting classifications of pathogenicity Glaucoma 3, primary congenital
RS1434569440 VPS13B Health Risk Likely pathogenic Cohen syndrome, VPS13B-related disorder
RS143456960 GBA2 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Inborn genetic diseases
RS143457316 SYNPO Health Risk Conflicting classifications of pathogenicity —
RS143457531 SUOX Health Risk Conflicting classifications of pathogenicity Sulfite oxidase deficiency, Sulfite oxidase deficiency
RS1434575390 FANCI Health Risk Conflicting classifications of pathogenicity —
RS1434577007 TET2 Health Risk Pathogenic —
RS1434577015 BBS1 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome 1
RS143457794 SCN4A Health Risk Conflicting classifications of pathogenicity Hyperkalemic periodic paralysis, Inborn genetic diseases
RS143457874 COL7A1 Health Risk Pathogenic Epidermolysis bullosa dystrophica inversa, autosomal recessive
RS1434578765 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1434578927 NPHS2 Health Risk Pathogenic —
RS143458628 DOCK8 Health Risk Conflicting classifications of pathogenicity Malignant tumor of esophagus, Ovarian serous cystadenocarcinoma
RS143458723 COL7A1 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa dystrophica, Epidermolysis bullosa dystrophica
RS143458938 FDXR Health Risk Conflicting classifications of pathogenicity Auditory neuropathy-optic atrophy syndrome, Inborn genetic diseases
RS143459232 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
RS143459302 SPTA1 Health Risk Conflicting classifications of pathogenicity Elliptocytosis 2, Hereditary spherocytosis type 3
RS1434599441 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1434601711 SPAG1 Health Risk Pathogenic Primary ciliary dyskinesia 28, Primary ciliary dyskinesia 28
RS143460342 D2HGDH Health Risk Conflicting classifications of pathogenicity D-2-hydroxyglutaric aciduria 1, D2HGDH-related disorder
RS143461644 DOCK8 Health Risk Conflicting classifications of pathogenicity Combined immunodeficiency due to DOCK8 deficiency, Combined immunodeficiency due to DOCK8 deficiency
RS143461869 POLR3A Health Risk Conflicting classifications of pathogenicity Leukodystrophy, hypomyelinating
RS143462011 FBN2 Health Risk Conflicting classifications of pathogenicity Connective tissue disorder, Congenital contractural arachnodactyly
RS143462810 DNMT3B Health Risk Conflicting classifications of pathogenicity Immunodeficiency-centromeric instability-facial anomalies syndrome 1, Centromeric instability of chromosomes 1
RS1434631255 CPLANE1 Health Risk Pathogenic/Likely pathogenic —
RS1434632102 CEP290 Health Risk Likely pathogenic Joubert syndrome 1, Joubert syndrome 1
RS1434632385 DRC2 Health Risk Likely pathogenic Primary ciliary dyskinesia 27, Primary ciliary dyskinesia 27
RS143463683 WNT10A Health Risk Conflicting classifications of pathogenicity Schöpf-Schulz-Passarge syndrome, Odonto-onycho-dermal dysplasia
RS143464326 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Holoprosencephaly 7
RS1434645720 MMUT Health Risk Pathogenic —
RS143464806 EVC Health Risk Conflicting classifications of pathogenicity Ellis-van Creveld syndrome, Curry-Hall syndrome
RS1434654558 IL12RB1 Health Risk Likely pathogenic Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency, Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
RS1434666715 PDZD7 Health Risk Pathogenic —
RS143468222 SNCAIP Health Risk Conflicting classifications of pathogenicity Parkinson Disease, Dominant/Recessive
RS143468500 APOB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Familial hypobetalipoproteinemia 1
RS143468713 MYLK Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 7
RS143470288 PROM1 Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy 12, Stargardt disease 4
RS143471343 CUBN Health Risk Conflicting classifications of pathogenicity Imerslund-Grasbeck syndrome type 1, Imerslund-Grasbeck syndrome
RS143471358 DUOX2 Health Risk Conflicting classifications of pathogenicity Thyroid dyshormonogenesis 6, Inborn genetic diseases
RS143471549 RTTN Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, RTTN-related disorder
RS1434725624 LOXHD1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 77, Autosomal recessive nonsyndromic hearing loss 77
RS1434726192 CHD5 Health Risk Conflicting classifications of pathogenicity Global developmental delay, Seizure
RS143472856 PTS Health Risk Conflicting classifications of pathogenicity 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency, PTS-related disorder
RS143473036 ABCA2 Health Risk Conflicting classifications of pathogenicity ABCA2-related disorder, ABCA2-related disorder
RS143473050 VARS2 Health Risk Conflicting classifications of pathogenicity Combined oxidative phosphorylation defect type 20, Combined oxidative phosphorylation defect type 20
RS143473183 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, NEB-related disorder
RS143473232 HARS1 Health Risk Pathogenic/Likely pathogenic Autosomal dominant Charcot-Marie-Tooth disease type 2W, Autosomal dominant Charcot-Marie-Tooth disease type 2W
RS143473912 TGM1 Health Risk Likely pathogenic Autosomal recessive congenital ichthyosis 1, Lamellar ichthyosis
RS143474365 NF1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Neurofibromatosis
RS1434753563 BARD1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS143475751 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
RS1434760802 CHEK2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Familial cancer of breast
RS1434761678 GAA Health Risk Likely pathogenic Glycogen storage disease, type II
RS143477104 RPS19 Health Risk Conflicting classifications of pathogenicity Diamond-Blackfan anemia, Diamond-Blackfan anemia 1
RS143477126 SACS Health Risk Conflicting classifications of pathogenicity Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS143477190 PRKN Health Risk Conflicting classifications of pathogenicity Autosomal recessive juvenile Parkinson disease 2, Autosomal recessive juvenile Parkinson disease 2
RS143477661 PAX6 Health Risk Conflicting classifications of pathogenicity carboxymethyl-dextran-A2-gadolinium-DOTA, 11p partial monosomy syndrome
RS143479340 LRSAM1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2P, Inborn genetic diseases
RS1434804006 TBC1D32 Health Risk Likely pathogenic TBC1D32-related disorder, TBC1D32-related disorder
RS143480636 ADAMTS17 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS143481004 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Inborn genetic diseases
RS1434810965 FGF3 Health Risk Pathogenic/Likely pathogenic FGF3-related disorder, Deafness with labyrinthine aplasia
RS1434813233 APC Health Risk Pathogenic Hereditary cancer-predisposing syndrome, APC-related disorder
RS143481438 GNAT1 Health Risk Pathogenic/Likely pathogenic Congenital stationary night blindness autosomal dominant 3, Congenital stationary night blindness 1G
RS143481916 SOS1 Health Risk Conflicting classifications of pathogenicity Noonan syndrome 4, Fibromatosis
RS1434821822 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1434829861 MMP21 Health Risk Pathogenic Heterotaxy, visceral
RS1434833641 HSD17B3 Health Risk Likely pathogenic —
RS143484278 PLEKHG5 Health Risk Conflicting classifications of pathogenicity Neuronopathy, distal hereditary motor
RS1434843098 GFM1 Health Risk Pathogenic/Likely pathogenic Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1, Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
RS143484733 GCK Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young type 2, Maturity-onset diabetes of the young
RS143484849 ABCB11 Health Risk Conflicting classifications of pathogenicity ABCB11-related disorder, ABCB11-related disorder
RS143485040 RAI1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS143485388 GNE Health Risk Conflicting classifications of pathogenicity Sialuria, GNE myopathy
RS143485622 AHI1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Joubert syndrome
RS143486492 CFTR Health Risk Conflicting classifications of pathogenicity Cystic fibrosis, CFTR-related disorder
RS1434865362 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Myofibrillar myopathy 5
RS1434866164 F9 Health Risk Pathogenic Thrombophilia, X-linked
RS143486835 GPD1L Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Brugada syndrome
RS1434874435 BSCL2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Berardinelli-Seip congenital lipodystrophy
RS143487597 ITIH6 Health Risk Conflicting classifications of pathogenicity —
RS1434876636 ERCC3 Health Risk Pathogenic/Likely pathogenic Xeroderma pigmentosum group B, Xeroderma pigmentosum
RS143488099 AGXT Health Risk Conflicting classifications of pathogenicity Primary hyperoxaluria, type I
RS1434894149 CTSC Health Risk Likely pathogenic Haim-Munk syndrome, Papillon-Lefèvre syndrome
RS1434898623 MLH1 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1434902604 CACNA1S Health Risk Pathogenic Hypokalemic periodic paralysis, type 1
RS143490673 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS143491016 IFT140 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Familial cancer of breast
RS143491269 GRM6 Health Risk Conflicting classifications of pathogenicity —
RS143491365 GAA Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type II
RS1434914864 VARS2 Health Risk Pathogenic Combined oxidative phosphorylation defect type 20, Combined oxidative phosphorylation defect type 20
RS1434920074 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1434924240 CCDC40 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 15, Primary ciliary dyskinesia
RS1434924385 PLOD1 Health Risk Pathogenic Ehlers-Danlos syndrome, kyphoscoliotic type 1
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