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rs868944261

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs868944261(C;C)
Make rs868944261(C;G)
ReferenceGRCh38.p7 38.3/150
ChromosomeX
Position154420211
GeneTAZ
is asnp
is mentioned by
dbSNPrs868944261
dbSNP (classic)rs868944261
ClinGenrs868944261
ebirs868944261
HLIrs868944261
Exacrs868944261
Gnomadrs868944261
Varsomers868944261
LitVarrs868944261
Maprs868944261
PheGenIrs868944261
Biobankrs868944261
1000 genomesrs868944261
hgdprs868944261
ensemblrs868944261
geneviewrs868944261
scholarrs868944261
googlers868944261
pharmgkbrs868944261
gwascentralrs868944261
openSNPrs868944261
23andMers868944261
SNPshotrs868944261
SNPdbers868944261
MSV3drs868944261
GWAS Ctlgrs868944261
Max Magnitude0
ClinVar
Risk rs868944261(C;C)
Alt rs868944261(C;C)
Reference Rs868944261(G;G)
Significance Pathogenic
Disease 3-Methylglutaconic aciduria type 2
Variation info
Gene TAZ
CLNDBN 3-Methylglutaconic aciduria type 2
Reversed 0
HGVS NC_000023.10:g.153648550G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000011861.2,