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rs112543062

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs112543062(C;C)
Make rs112543062(C;T)
ReferenceGRCh38.p7 38.3/150
Chromosome12
Position101770161
GeneGNPTAB
is asnp
is mentioned by
dbSNPrs112543062
dbSNP (old)rs112543062
ClinGenrs112543062
ebirs112543062
HLIrs112543062
Exacrs112543062
Gnomadrs112543062
Varsomers112543062
Maprs112543062
PheGenIrs112543062
Biobankrs112543062
1000 genomesrs112543062
hgdprs112543062
ensemblrs112543062
gopubmedrs112543062
geneviewrs112543062
scholarrs112543062
googlers112543062
pharmgkbrs112543062
gwascentralrs112543062
openSNPrs112543062
23andMers112543062
23andMe allrs112543062
SNPshotrs112543062
SNPdbers112543062
MSV3drs112543062
GWAS Ctlgrs112543062
Max Magnitude0
ClinVar
Risk rs112543062(C;C) rs112543062(G;G)
Alt rs112543062(C;C) rs112543062(G;G)
Reference Rs112543062(T;T)
Significance Probable-Pathogenic
Disease not specified I cell disease Pseudo-Hurler polydystrophy
Variation info
Gene GNPTAB
CLNDBN not specified I cell disease Pseudo-Hurler polydystrophy
Reversed 0
HGVS NC_000012.11:g.102163939T>G
CLNSRC
CLNACC RCV000173897.1, RCV000449633.1,