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
RS1803105951 CLCN1 Health Risk Pathogenic Congenital myotonia, autosomal dominant form
RS1803111906 CLCN1 Health Risk Conflicting classifications of pathogenicity Congenital myotonia, autosomal dominant form
RS1803112361 CLCN1 Health Risk Pathogenic Congenital myotonia, autosomal recessive form
RS1803142505 SGCE Health Risk Pathogenic Myoclonic dystonia 11, Myoclonic dystonia 11
RS1803161 SMPD1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type B
RS1803166332 HGSNAT Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-III-C
RS1803166641 HGSNAT Health Risk Likely pathogenic Retinitis pigmentosa 73, Mucopolysaccharidosis
RS1803167331 HGSNAT Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-III-C
RS1803173923 ERLIN2 Health Risk Pathogenic/Likely pathogenic Spastic paraplegia, Spastic paraplegia 18a
RS1803175282 ERLIN2 Health Risk Likely pathogenic Abnormality of the nervous system, Abnormality of the nervous system
RS1803178017 CLXN Health Risk Likely pathogenic Ciliary dyskinesia, primary
RS1803180587 HGSNAT Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-C
RS1803181154 HGSNAT Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-III-C
RS1803182974 HGSNAT Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-III-C
RS1803195 HBB Health Risk Conflicting classifications of pathogenicity HEMOGLOBIN PYRGOS, HEMOGLOBIN PYRGOS
RS1803198 GLB1 Health Risk Conflicting classifications of pathogenicity GM1 gangliosidosis, Mucopolysaccharidosis
RS1803200 GLB1 Health Risk Pathogenic GM1 gangliosidosis type 3, Mucopolysaccharidosis
RS1803225186 CLCN1 Health Risk Likely pathogenic Congenital myotonia, autosomal recessive form
RS1803238026 CLCN1 Health Risk Pathogenic Congenital myotonia, autosomal recessive form
RS1803239521 SHH Health Risk Pathogenic Holoprosencephaly 3, Holoprosencephaly 3
RS1803244738 RNF170 Health Risk Conflicting classifications of pathogenicity Autosomal dominant sensory ataxia 1, Autosomal dominant sensory ataxia 1
RS1803265151 CLCN1 Health Risk Pathogenic/Likely pathogenic Congenital myotonia, autosomal dominant form
RS1803267843 SHH Health Risk Pathogenic Schizencephaly, Schizencephaly
RS1803274 BCHE Health Risk Conflicting classifications of pathogenicity Butyrylcholinesterase activity, Deficiency of butyrylcholinesterase
RS1803289281 TFR2 Health Risk Conflicting classifications of pathogenicity Hemochromatosis type 3, Hereditary hemochromatosis
RS1803294545 ERLIN2 Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS1803297757 TFR2 Health Risk Pathogenic/Likely pathogenic Hereditary hemochromatosis, Hemochromatosis type 3
RS1803308145 PKHD1 Health Risk Pathogenic Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS1803309728 TFR2 Health Risk Pathogenic Hereditary hemochromatosis, Hereditary hemochromatosis
RS1803316071 TFR2 Health Risk Pathogenic Hemochromatosis type 3, Hemochromatosis type 3
RS1803316195 TFR2 Health Risk Likely pathogenic Hereditary hemochromatosis, Hereditary hemochromatosis
RS1803322601 PKHD1 Health Risk Likely pathogenic Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS1803324863 TFR2 Health Risk Pathogenic/Likely pathogenic Hemochromatosis type 3, Hereditary hemochromatosis
RS1803325484 PKHD1 Health Risk Pathogenic Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS1803359070 CLCN1 Health Risk Likely pathogenic —
RS1803359971 TFR2 Health Risk Likely pathogenic Hemochromatosis type 3, Hemochromatosis type 3
RS1803360739 SHH Health Risk Pathogenic —
RS1803363753 TFR2 Health Risk Pathogenic Hereditary hemochromatosis, Hereditary hemochromatosis
RS1803407825 CLCN1 Health Risk Likely pathogenic Tip-toe gait, Tip-toe gait
RS1803411479 TFR2 Health Risk Likely pathogenic Hereditary hemochromatosis, Hereditary hemochromatosis
RS1803418157 TFR2 Health Risk Pathogenic Hereditary hemochromatosis, Hereditary hemochromatosis
RS1803425342 WRN Health Risk Likely pathogenic Werner syndrome, Werner syndrome
RS1803426742 WRN Health Risk Pathogenic Werner syndrome, Werner syndrome
RS1803445521 TFR2 Health Risk Likely pathogenic Hemochromatosis type 3, Hemochromatosis type 3
RS1803451815 COG5 Health Risk Pathogenic COG5-congenital disorder of glycosylation, COG5-congenital disorder of glycosylation
RS1803502704 TFR2 Health Risk Pathogenic Hemochromatosis type 3, Hemochromatosis type 3
RS1803510959 TFR2 Health Risk Pathogenic/Likely pathogenic Hereditary hemochromatosis, Hemochromatosis type 3
RS1803513587 YWHAG Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 56
RS1803593441 HGSNAT Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-C
RS1803595754 MCPH1 Health Risk Pathogenic Microcephaly 1, primary
RS1803597889 MCPH1 Health Risk Pathogenic Autosomal recessive primary microcephaly, Autosomal recessive primary microcephaly
RS1803643769 ATP6V0A4 Health Risk Pathogenic —
RS1803654249 HGSNAT Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-III-C
RS1803693 TUBG1 Health Risk Likely pathogenic Complex cortical dysplasia with other brain malformations 4, Complex cortical dysplasia with other brain malformations 4
RS1803693127 TFR2 Health Risk Likely pathogenic Hemochromatosis type 3, Hereditary hemochromatosis
RS1803699632 TFR2 Health Risk Pathogenic/Likely pathogenic Hereditary hemochromatosis, Hemochromatosis type 3
RS1803700065 TFR2 Health Risk Pathogenic Hereditary hemochromatosis, Hereditary hemochromatosis
RS1803748923 CHD7 Health Risk Conflicting classifications of pathogenicity Hypogonadotropic hypogonadism 5 with or without anosmia, CHARGE syndrome
RS1803756402 CHD7 Health Risk Pathogenic —
RS1803781 IDS Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-II
RS1803814845 PKHD1 Health Risk Pathogenic Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS1803825502 ACTL6B Health Risk Likely pathogenic —
RS1803834984 PKHD1 Health Risk Likely pathogenic Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS1803835418 BRAF Health Risk Conflicting classifications of pathogenicity RASopathy, See cases
RS1803878901 HGSNAT Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-III-C
RS1803908698 ACTL6B Health Risk Pathogenic —
RS1803966174 MCPH1 Health Risk Pathogenic/Likely pathogenic Microcephaly 1, primary
RS1803996097 ATP6V0A4 Health Risk Pathogenic Autosomal recessive distal renal tubular acidosis, Autosomal recessive distal renal tubular acidosis
RS1804028189 MCPH1 Health Risk Pathogenic —
RS1804043 RAD21 Health Risk Pathogenic Cornelia de Lange syndrome 4, Cornelia de Lange syndrome 4
RS1804050408 TNPO3 Health Risk Pathogenic Autosomal dominant limb-girdle muscular dystrophy type 1F, Autosomal dominant limb-girdle muscular dystrophy type 1F
RS1804054410 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS1804056309 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS1804068191 CHD7 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1804095038 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, CHARGE syndrome
RS1804096857 CHD7 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1804098493 CHD7 Health Risk Likely pathogenic CHARGE syndrome, CHARGE syndrome
RS1804098617 CHD7 Health Risk Pathogenic Chromatinopathy, Chromatinopathy
RS1804103264 CHD7 Health Risk Likely pathogenic CHARGE syndrome, Inborn genetic diseases
RS1804147747 HGSNAT Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-III-C
RS1804153046 CHD7 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1804153455 CHD7 Health Risk Likely pathogenic CHARGE syndrome, CHARGE syndrome
RS1804154342 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, CHARGE syndrome
RS1804158472 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS1804367478 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS1804369315 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS1804369859 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS1804373189 GNB2 Health Risk Likely pathogenic GNB2-related disorder, Neurodevelopmental disorder with hypotonia and dysmorphic facies
RS1804394258 SGCE Health Risk Pathogenic Myoclonic dystonia 11, Myoclonic dystonia 11
RS1804439932 ATP6V0A4 Health Risk Pathogenic Renal tubular acidosis, distal
RS1804449 SOD1 Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 1, Amyotrophic lateral sclerosis type 1
RS1804452117 CHD7 Health Risk Likely pathogenic CHD7-related disorder, CHD7-related disorder
RS1804454376 CHD7 Health Risk Likely pathogenic CHARGE syndrome, CHARGE syndrome
RS1804454889 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS1804495 SERPINA7 Health Risk Conflicting classifications of pathogenicity Thyroxine-binding globulin, variant P
RS1804526900 HGSNAT Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-III-C
RS1804527418 HGSNAT Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-C
RS1804548 TNNC2 Health Risk Pathogenic Congenital myopathy 15, Congenital myopathy 15
RS1804561 PRSS1 Health Risk Conflicting classifications of pathogenicity Hereditary pancreatitis, Hereditary pancreatitis
RS1804565177 HGSNAT Health Risk Pathogenic/Likely pathogenic Sanfilippo syndrome, Retinitis pigmentosa 73
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