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
RS754274438 SRCAP Health Risk Conflicting classifications of pathogenicity Floating-Harbor syndrome, Developmental delay
RS754275014 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS754275640 KCNV2 Health Risk Likely pathogenic cone dystrophy with supernormal rod electroretinogram, Cone dystrophy with supernormal rod response
RS754276150 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS754276364 SPTAN1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 5
RS754277446 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS754278187 RAD50 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS754279263 TCF20 Health Risk Conflicting classifications of pathogenicity Developmental delay with variable intellectual impairment and behavioral abnormalities, Developmental delay with variable intellectual impairment and behavioral abnormalities
RS754279473 TBCE Health Risk Conflicting classifications of pathogenicity Hypoparathyroidism-retardation-dysmorphism syndrome, Hypoparathyroidism-retardation-dysmorphism syndrome
RS754279998 MKS1 Health Risk Pathogenic/Likely pathogenic Joubert syndrome, Joubert syndrome 28
RS754282058 CDK5RAP2 Health Risk Pathogenic/Likely pathogenic Microcephaly 3, primary
RS754282309 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS754282387 CREBBP Health Risk Conflicting classifications of pathogenicity CREBBP-related disorder, Rubinstein-Taybi syndrome
RS754282574 TUBGCP6 Health Risk Pathogenic —
RS754283265 ACVRL1 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS754283907 CDKN1C Health Risk Conflicting classifications of pathogenicity Beckwith-Wiedemann syndrome, IMAGe syndrome
RS754285464 SETX Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia
RS754287293 PEPD Health Risk Pathogenic —
RS754287486 ABCB4 Health Risk Pathogenic/Likely pathogenic Cholestasis, intrahepatic
RS754288317 TMC6 Health Risk Likely pathogenic —
RS754288444 GLMN Health Risk Likely pathogenic —
RS754289472 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS754289857 COL17A1 Health Risk Pathogenic/Likely pathogenic Junctional epidermolysis bullosa, Junctional epidermolysis bullosa
RS754290174 RP1 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS754290613 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome
RS754291622 BCS1L Health Risk Pathogenic Mitochondrial complex III deficiency nuclear type 1, Mitochondrial complex III deficiency nuclear type 1
RS754292065 UNC13D Health Risk Pathogenic Familial hemophagocytic lymphohistiocytosis 3, Familial hemophagocytic lymphohistiocytosis 3
RS754292378 TBX6 Health Risk Likely pathogenic TBX6-related disorder, TBX6-related disorder
RS754293393 SPEN Health Risk Conflicting classifications of pathogenicity —
RS754295034 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS754297172 PLD1 Health Risk Conflicting classifications of pathogenicity —
RS754297345 FANCM Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia
RS754298712 PDE6B Health Risk Conflicting classifications of pathogenicity Congenital stationary night blindness autosomal dominant 2, Retinitis pigmentosa
RS75429891 HSD3B2 Health Risk Conflicting classifications of pathogenicity 3 beta-Hydroxysteroid dehydrogenase deficiency, HSD3B2-related disorder
RS75430014 GCDH Health Risk Conflicting classifications of pathogenicity Glutaric aciduria, type 1
RS754300929 OTOGL Health Risk Pathogenic Monogenic hearing loss, Monogenic hearing loss
RS754301929 JAG1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Alagille syndrome due to a JAG1 point mutation
RS754303047 BCKDHA Health Risk Pathogenic Maple syrup urine disease, Maple syrup urine disease
RS754303766 LAMA1 Health Risk Conflicting classifications of pathogenicity —
RS754304050 ALOXE3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive congenital ichthyosis 3, Autosomal recessive congenital ichthyosis 3
RS754304255 HARS1 Health Risk Conflicting classifications of pathogenicity 11 conditions, Usher syndrome type 3B
RS754304889 ABCC8 Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young, Transitory neonatal diabetes mellitus
RS754306565 HOGA1 Health Risk Pathogenic Primary hyperoxaluria type 3, Primary hyperoxaluria type 3
RS754306821 HNF1A Health Risk Uncertain significance/Uncertain risk allele 6 conditions, Maturity-onset diabetes of the young
RS754307169 AFG3L2 Health Risk Pathogenic —
RS754308757 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Cardiovascular phenotype
RS754309202 NSD1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Sotos syndrome
RS754309921 FLNC Health Risk Conflicting classifications of pathogenicity Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26
RS754310324 COL2A1 Health Risk Conflicting classifications of pathogenicity Stickler syndrome type 1, COL2A1-related disorder
RS754310499 CYP27A1 Health Risk Conflicting classifications of pathogenicity Cholestanol storage disease, Cardiovascular phenotype
RS754310554 EP300 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
RS754311081 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS754311198 ACAD9 Health Risk Likely pathogenic Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency
RS754311954 MYO15A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 3, Inborn genetic diseases
RS754312036 MYORG Health Risk Pathogenic —
RS754312148 NEFL Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease
RS754312389 GCDH Health Risk Likely pathogenic Glutaric aciduria, type 1
RS754312452 SCN5A Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiac arrhythmia
RS754312564 ALDH7A1 Health Risk Likely pathogenic Epilepsy, Epilepsy
RS754312807 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Catecholaminergic polymorphic ventricular tachycardia 1
RS754312950 IFT140 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Retinal dystrophy
RS754313121 PPOX Health Risk Pathogenic/Likely pathogenic —
RS754314057 SOS1 Health Risk Conflicting classifications of pathogenicity RASopathy, Cardiovascular phenotype
RS754314526 RYR2 Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia 1, Cardiomyopathy
RS754316026 DNAAF5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS754316545 SETX Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia
RS754317278 CACNA1A Health Risk Conflicting classifications of pathogenicity Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS754319442 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Catecholaminergic polymorphic ventricular tachycardia 1
RS754320004 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS754320812 SLC52A2 Health Risk Pathogenic/Likely pathogenic Brown-Vialetto-van Laere syndrome 2, Inborn genetic diseases
RS754321329 CDHR1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS754321780 UBE3B Health Risk Pathogenic —
RS754323070 PTPN23 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS754323286 NPC1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type C1
RS754323928 LAMA3 Health Risk Pathogenic —
RS754325237 ACADVL Health Risk Conflicting classifications of pathogenicity Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS754325718 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS754326012 DSP Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS754326499 PHGDH Health Risk Conflicting classifications of pathogenicity PHGDH deficiency, PHGDH deficiency
RS754326939 CACNA1A Health Risk Conflicting classifications of pathogenicity Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS754327744 CHKB Health Risk Conflicting classifications of pathogenicity Megaconial type congenital muscular dystrophy, Megaconial type congenital muscular dystrophy
RS754328064 FLG Health Risk Pathogenic —
RS754329751 AKAP9 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS754330779 CUL4B Health Risk Conflicting classifications of pathogenicity X-linked intellectual disability Cabezas type, CUL4B-related disorder
RS754331955 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Myofibrillar myopathy 5
RS754332101 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS754332334 SBF1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4B3, Charcot-Marie-Tooth disease type 4B3
RS754332448 NPHP3 Health Risk Likely pathogenic Nephronophthisis, Nephronophthisis 3
RS754332870 TP53 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS754333013 PKD1 Health Risk Likely pathogenic —
RS754333450 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS754333675 DMD Health Risk Likely pathogenic Duchenne muscular dystrophy, Becker muscular dystrophy
RS754334951 DNAH8 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS754335768 PLAA Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS754336186 AGA Health Risk Pathogenic Aspartylglucosaminuria, Aspartylglucosaminuria
RS754336457 FAH Health Risk Conflicting classifications of pathogenicity Tyrosinemia type I, Tyrosinemia type I
RS754336683 NR5A1 Health Risk Pathogenic 46, XY sex reversal 3
RS754336717 FN1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS754336808 WT1 Health Risk Conflicting classifications of pathogenicity Drash syndrome, Frasier syndrome
RS754338004 PAX1 Health Risk Conflicting classifications of pathogenicity Otofaciocervical syndrome 2, Otofaciocervical syndrome 2
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