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rs121912542

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121912542(A;C)
Make rs121912542(C;C)
ReferenceGRCh38 38.1/141
Chromosome7
Position27198251
GeneHOXA13
is asnp
is mentioned by
dbSNPrs121912542
dbSNP (classic)rs121912542
ClinGenrs121912542
ebirs121912542
HLIrs121912542
Exacrs121912542
Gnomadrs121912542
Varsomers121912542
LitVarrs121912542
Maprs121912542
PheGenIrs121912542
Biobankrs121912542
1000 genomesrs121912542
hgdprs121912542
ensemblrs121912542
geneviewrs121912542
scholarrs121912542
googlers121912542
pharmgkbrs121912542
gwascentralrs121912542
openSNPrs121912542
23andMers121912542
SNPshotrs121912542
SNPdbers121912542
MSV3drs121912542
GWAS Ctlgrs121912542
Max Magnitude0
OMIM142959
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121912542(C;C)
Alt rs121912542(C;C)
Reference Rs121912542(A;A)
Significance Pathogenic
Disease Hand foot uterus syndrome
Variation info
Gene HOXA13
CLNDBN Hand foot uterus syndrome
Reversed 1
HGVS NC_000007.13:g.27237870T>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000016021.21,