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
RS748186190 OCRL Health Risk Conflicting classifications of pathogenicity Lowe syndrome, Dent disease type 2
RS748186908 BLM Health Risk Pathogenic/Likely pathogenic Bloom syndrome, Bloom syndrome
RS748186935 CTNNA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Patterned macular dystrophy 2
RS748187062 HADHA Health Risk Conflicting classifications of pathogenicity Mitochondrial trifunctional protein deficiency, Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
RS748187466 CDH23 Health Risk Conflicting classifications of pathogenicity —
RS748188421 IFI44 Health Risk risk factor Multisystem inflammatory syndrome in children, Multisystem inflammatory syndrome in children
RS748190164 HEXA Health Risk Pathogenic/Likely pathogenic Tay-Sachs disease, Tay-Sachs disease
RS748190695 LZTR1 Health Risk Conflicting classifications of pathogenicity Noonan syndrome 10, Noonan syndrome 2
RS748192983 KIF1B Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS748194118 CAPN3 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A
RS748194265 DUOX2 Health Risk Pathogenic/Likely pathogenic Thyroid dyshormonogenesis 6, Thyroid dyshormonogenesis 6
RS748194372 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Catecholaminergic polymorphic ventricular tachycardia 1
RS748194962 COL27A1 Health Risk Conflicting classifications of pathogenicity —
RS748196998 PKHD1 Health Risk Pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS748198629 CACNA1C Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome
RS748200691 USH2A Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 39, Retinal dystrophy
RS748200741 MSN Health Risk Conflicting classifications of pathogenicity —
RS748200917 ADAMTS18 Health Risk Conflicting classifications of pathogenicity ADAMTS18-related disorder, ADAMTS18-related disorder
RS748201094 EVC Health Risk Pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS748201122 MCCC1 Health Risk Pathogenic/Likely pathogenic 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency
RS748202003 STK11 Health Risk Conflicting classifications of pathogenicity Peutz-Jeghers syndrome, Hereditary cancer-predisposing syndrome
RS748202049 MYZAP Health Risk Pathogenic Cardiomyopathy, dilated
RS748203170 NPHS2 Health Risk Likely pathogenic Nephrotic syndrome, type 2
RS748203708 ASL Health Risk Likely pathogenic Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
RS748203812 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS748204076 LRP2 Health Risk Conflicting classifications of pathogenicity Donnai-Barrow syndrome, Donnai-Barrow syndrome
RS748204331 SAG Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS748204442 ABCB11 Health Risk Conflicting classifications of pathogenicity Progressive familial intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2
RS748204512 ATP2C1 Health Risk Pathogenic Familial benign pemphigus, Familial benign pemphigus
RS748205778 WFS1 Health Risk Pathogenic/Likely pathogenic Wolfram-like syndrome, Wolfram syndrome 1
RS748206266 LCT Health Risk Conflicting classifications of pathogenicity Congenital lactase deficiency, Congenital lactase deficiency
RS748210737 ANLN Health Risk Conflicting classifications of pathogenicity —
RS748210823 AIPL1 Health Risk Pathogenic/Likely pathogenic Leber congenital amaurosis 4, Leber congenital amaurosis
RS748211848 BRIP1 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS748212030 SLC22A5 Health Risk Conflicting classifications of pathogenicity Renal carnitine transport defect, Renal carnitine transport defect
RS748212979 AHDC1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS748213808 LRRK2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant Parkinson disease 8, Autosomal dominant Parkinson disease 8
RS748213879 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS748215343 OPA1 Health Risk Pathogenic —
RS748215430 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS748215576 IL12B Health Risk Pathogenic/Likely pathogenic Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency, IL12B-related disorder
RS748215651 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS748215804 TCTN1 Health Risk Pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS748216114 MAK Health Risk Pathogenic —
RS74821926 ALB Health Risk Pathogenic Alloalbuminemia, Alloalbuminemia
RS748219640 AGRN Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 8, Inborn genetic diseases
RS748219689 ADGRV1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS748219743 UGT1A1 Health Risk Pathogenic/Likely pathogenic Crigler-Najjar syndrome type 1, Inborn genetic diseases
RS748219780 EGFR Health Risk Conflicting classifications of pathogenicity EGFR-related lung cancer, Hereditary cancer-predisposing syndrome
RS748220102 JAG1 Health Risk Conflicting classifications of pathogenicity Alagille syndrome due to a JAG1 point mutation, Tetralogy of Fallot
RS748221725 TMEM67 Health Risk Conflicting classifications of pathogenicity 6 conditions, Meckel-Gruber syndrome
RS748223125 TNXB Health Risk Pathogenic/Likely pathogenic Ehlers-Danlos syndrome due to tenascin-X deficiency, Ehlers-Danlos syndrome due to tenascin-X deficiency
RS748223349 RTEL1 Health Risk Pathogenic Interstitial lung disease 2, Interstitial lung disease 2
RS748223473 ITGB4 Health Risk Likely pathogenic Epidermolysis bullosa, junctional 5A
RS748223519 ADAMTS13 Health Risk Pathogenic Thrombocytopenia, Abnormal bleeding
RS748225883 MMUT Health Risk Conflicting classifications of pathogenicity —
RS748226232 MIB1 Health Risk Likely pathogenic MIB1-related disorder, MIB1-related disorder
RS748227291 ALG12 Health Risk Conflicting classifications of pathogenicity ALG12-congenital disorder of glycosylation, Inborn genetic diseases
RS748227837 PRNP Health Risk Conflicting classifications of pathogenicity Inherited prion disease, Huntington disease-like 1
RS748228253 UMOD Health Risk Conflicting classifications of pathogenicity Familial juvenile hyperuricemic nephropathy type 1, Familial juvenile hyperuricemic nephropathy type 1
RS748228488 CSF1R Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS748230358 BMPR2 Health Risk Pathogenic Pulmonary hypertension, primary
RS748232676 SPTAN1 Health Risk Conflicting classifications of pathogenicity SPTAN1-related disorder, Spastic paraplegia 91
RS748233107 JPH2 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiomyopathy
RS748233241 ABCG8 Health Risk Pathogenic Sitosterolemia 1, Sitosterolemia 1
RS748233295 ABCC8 Health Risk Likely pathogenic Hyperinsulinemic hypoglycemia, familial
RS748234107 SRP72 Health Risk Conflicting classifications of pathogenicity —
RS748234485 ALMS1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Alstrom syndrome
RS748235011 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS748236037 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS748237097 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS748237572 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS748237614 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Charlevoix-Saguenay spastic ataxia
RS748240234 PNPLA1 Health Risk Pathogenic —
RS748240670 PTEN Health Risk Conflicting classifications of pathogenicity PTEN hamartoma tumor syndrome, Hereditary cancer-predisposing syndrome
RS748240859 FERMT1 Health Risk Pathogenic Kindler syndrome, FERMT1-related disorder
RS748241066 TRIP11 Health Risk Conflicting classifications of pathogenicity Achondrogenesis, type IA
RS748241465 ATP2A1 Health Risk Pathogenic Brody myopathy, Brody myopathy
RS74824159 CLCN1 Health Risk Conflicting classifications of pathogenicity Congenital myotonia, autosomal recessive form
RS748241805 SPG11 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 11, Inborn genetic diseases
RS748242385 TMEM43 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 5, Cardiovascular phenotype
RS748242735 PHKB Health Risk Pathogenic Glycogen storage disease IXb, Glycogen storage disease IXb
RS748243814 KDM6B Health Risk Pathogenic —
RS748244135 IFT172 Health Risk Pathogenic —
RS748245325 NF1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Neurofibromatosis
RS748246442 MYO15A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS748247534 PHIP Health Risk Conflicting classifications of pathogenicity PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome, Intellectual disability
RS748248022 COL2A1 Health Risk Pathogenic —
RS748248329 KIF5A Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Spastic paraplegia
RS748248444 RAD51C Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group O, Hereditary cancer-predisposing syndrome
RS748250829 ALPL Health Risk Likely pathogenic —
RS748252615 PRR12 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS748254534 GABRA2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS748254625 COL4A3 Health Risk Conflicting classifications of pathogenicity Alport syndrome, Alport syndrome
RS748255454 SPG7 Health Risk Pathogenic Hereditary spastic paraplegia 7, Hereditary spastic paraplegia 7
RS748256431 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS748256443 MTOR Health Risk Conflicting classifications of pathogenicity Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome, Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome
RS748256556 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Inborn genetic diseases
RS748261129 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS748262024 SETX Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Spinocerebellar ataxia
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