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rs121912971

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(GC;GC) 0 common in clinvar
Make rs121912971(GC;TA)
Make rs121912971(TA;TA)
ReferenceGRCh38 38.1/141
Chromosome5
Position174724924
GeneMSX2
is asnp
is mentioned by
dbSNPrs121912971
dbSNP (classic)rs121912971
ClinGenrs121912971
ebirs121912971
HLIrs121912971
Exacrs121912971
Gnomadrs121912971
Varsomers121912971
LitVarrs121912971
Maprs121912971
PheGenIrs121912971
Biobankrs121912971
1000 genomesrs121912971
hgdprs121912971
ensemblrs121912971
geneviewrs121912971
scholarrs121912971
googlers121912971
pharmgkbrs121912971
gwascentralrs121912971
openSNPrs121912971
23andMers121912971
SNPshotrs121912971
SNPdbers121912971
MSV3drs121912971
GWAS Ctlgrs121912971
Max Magnitude0
OMIM123101
Desc
Variant0005
Relatedalso
ClinVar
Risk rs121912971(TA;TA)
Alt rs121912971(TA;TA)
Reference Rs121912971(GC;GC)
Significance Pathogenic
Disease Parietal foramina 1
Variation info
Gene MSX2
CLNDBN Parietal foramina 1
Reversed 0
HGVS NC_000005.9:g.174151927_174151928delGCinsTA
CLNSRC OMIM Allelic Variant
CLNACC RCV000018478.25,