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
RS766299724 DHCR7 Health Risk Pathogenic/Likely pathogenic Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
RS766300396 CTSD Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS766300906 TBX4 Health Risk Likely pathogenic Pulmonary hypertension, primary
RS766301009 TSFM Health Risk Conflicting classifications of pathogenicity —
RS766301620 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
RS766305306 ZEB1 Health Risk Pathogenic Corneal dystrophy, Corneal dystrophy
RS766305562 TRPM1 Health Risk Pathogenic —
RS766305690 ACAD9 Health Risk Likely pathogenic Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency
RS766305807 IMPG2 Health Risk Likely pathogenic Vitelliform macular dystrophy 5, Vitelliform macular dystrophy 5
RS766306957 COL4A3 Health Risk Pathogenic Autosomal recessive Alport syndrome, Alport syndrome
RS766307334 ACAD8 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS766308212 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS766308874 KMT2B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS766310671 GALC Health Risk Pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS766311956 PNPO Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Pyridoxal phosphate-responsive seizures
RS766312203 RECQL4 Health Risk Pathogenic/Likely pathogenic Baller-Gerold syndrome, Rothmund-Thomson syndrome type 2
RS766312766 ABCC8 Health Risk Pathogenic/Likely pathogenic Hyperinsulinemic hypoglycemia, familial
RS766313615 PTCH1 Health Risk Pathogenic Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS766314948 TRMU Health Risk Likely pathogenic Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins, Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
RS766315579 KIT Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS766315644 RAD50 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Nijmegen breakage syndrome-like disorder
RS766315655 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS766316221 SPINK5 Health Risk Likely pathogenic Ichthyosis linearis circumflexa, Ichthyosis linearis circumflexa
RS766316984 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS766316995 IFT140 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Retinitis pigmentosa 80
RS766317271 CHD8 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS766317663 COQ4 Health Risk Conflicting classifications of pathogenicity Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome, Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
RS766317685 CLTC Health Risk Pathogenic Intellectual disability, autosomal dominant 56
RS766317920 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS766318490 SMPD4 Health Risk Pathogenic/Likely pathogenic Neurodevelopmental disorder with microcephaly, arthrogryposis
RS766318986 KAT6B Health Risk Conflicting classifications of pathogenicity Genitopatellar syndrome, Genitopatellar syndrome
RS766319459 NBAS Health Risk Conflicting classifications of pathogenicity —
RS766320521 CREBBP Health Risk Conflicting classifications of pathogenicity Rubinstein-Taybi syndrome, Rubinstein-Taybi syndrome due to CREBBP mutations
RS766320733 ABCC2 Health Risk Conflicting classifications of pathogenicity Dubin-Johnson syndrome, Dubin-Johnson syndrome
RS766321668 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Arthrogryposis multiplex congenita 6
RS766323360 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS766323701 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS766323718 MEFV Health Risk Conflicting classifications of pathogenicity Familial Mediterranean fever, autosomal dominant
RS766323732 DNAH1 Health Risk Pathogenic Spermatogenic failure 18, Ciliary dyskinesia
RS766324119 LYST Health Risk Conflicting classifications of pathogenicity Chédiak-Higashi syndrome, Inborn genetic diseases
RS766325117 GAA Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type II
RS766325631 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Cardiovascular phenotype
RS766325919 CDH3 Health Risk Conflicting classifications of pathogenicity EEM syndrome, Inborn genetic diseases
RS766326295 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS766327614 USH1C Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 18A, Usher syndrome type 1
RS766328275 SPTBN2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS766328537 ASPA;SPATA22 Health Risk Pathogenic/Likely pathogenic Spongy degeneration of central nervous system, Canavan Disease
RS766330201 SLC13A5 Health Risk Pathogenic Developmental and epileptic encephalopathy, 25
RS766330561 TNFRSF11A Health Risk Conflicting classifications of pathogenicity Autosomal recessive osteopetrosis 7, Paget disease of bone 2
RS766330646 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS766330686 FLNC Health Risk Pathogenic/Likely pathogenic Cardiovascular phenotype, Primary dilated cardiomyopathy
RS766330880 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS766331452 CYP17A1 Health Risk Pathogenic/Likely pathogenic Deficiency of steroid 17-alpha-monooxygenase, Deficiency of steroid 17-alpha-monooxygenase
RS766331925 CNGA3 Health Risk Pathogenic —
RS766332635 SCN1A Health Risk Conflicting classifications of pathogenicity —
RS766333701 TMEM260 Health Risk Likely pathogenic Structural heart defects and renal anomalies syndrome, Structural heart defects and renal anomalies syndrome
RS766334048 DRP2 Health Risk Conflicting classifications of pathogenicity —
RS766334893 CAPN3 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy
RS766336201 DLL1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS766337795 PARN Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, autosomal recessive 6
RS766338928 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Dystrophin deficiency
RS766339217 NF2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Neurofibromatosis
RS766339992 SDHA Health Risk Conflicting classifications of pathogenicity Mitochondrial complex II deficiency, nuclear type 1
RS766340946 GRIN2D Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 46
RS766341332 SZT2 Health Risk Pathogenic/Likely pathogenic SZT2-related disorder, Developmental and epileptic encephalopathy
RS766341386 DYSF Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS766341403 RP1 Health Risk Pathogenic —
RS766341781 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Lynch syndrome 5
RS766342643 HR Health Risk Conflicting classifications of pathogenicity Atrichia with papular lesions, Alopecia universalis congenita
RS766343259 KIF11 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS766344083 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Cardiomyopathy
RS766346293 COL4A1 Health Risk Pathogenic/Likely pathogenic Irido-corneo-trabecular dysgenesis, Irido-corneo-trabecular dysgenesis
RS766346918 UNC45A Health Risk Conflicting classifications of pathogenicity Cholestasis-edema syndrome, Norwegian type
RS766347577 GABBR2 Health Risk Conflicting classifications of pathogenicity Epileptic encephalopathy, Inborn genetic diseases
RS766347880 TGFBR1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS766348585 SMC3 Health Risk Conflicting classifications of pathogenicity Cornelia de Lange syndrome 3, Inborn genetic diseases
RS766349515 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS766349734 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS766350964 PFKM Health Risk Likely pathogenic Glycogen storage disease, type VII
RS766351395 ATM Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS76635144 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS766352190 TTC29 Health Risk Pathogenic Spermatogenic failure 42, Spermatogenic failure 42
RS766352407 SDHA Health Risk Conflicting classifications of pathogenicity Mitochondrial complex II deficiency, nuclear type 1
RS766352439 PLXNA1 Health Risk Pathogenic —
RS766353067 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS766354453 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS766355219 CEP290 Health Risk Conflicting classifications of pathogenicity Meckel-Gruber syndrome, Nephronophthisis
RS766355387 NEB Health Risk Pathogenic/Likely pathogenic Nemaline myopathy 2, Nemaline myopathy
RS766355750 ADGRV1 Health Risk Conflicting classifications of pathogenicity —
RS766355858 PCDH19 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 9
RS766357080 BEST1 Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS766357778 COL4A2 Health Risk Conflicting classifications of pathogenicity —
RS766357803 PROM1 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa, Cone-rod dystrophy 12
RS766357828 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS766358553 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS766358616 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS766358855 PRDM13 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS766360534 COL4A6 Health Risk Conflicting classifications of pathogenicity Hearing loss, X-linked 6
RS766360619 DEPDC5 Health Risk Conflicting classifications of pathogenicity Familial focal epilepsy with variable foci, Inborn genetic diseases
RS766361035 AICDA Health Risk Likely pathogenic —
« Prev 1 ... 3460 3461 3462 3463 3464 3465 3466 ... 4509 Next »

Upload your DNA to see which variants you carry and what they mean for your health.

Get Started Free →