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rs121912547

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121912547(A;A)
Make rs121912547(A;C)
ReferenceGRCh38 38.1/141
Chromosome7
Position157009859
GeneMNX1, MNX1-AS1
is asnp
is mentioned by
dbSNPrs121912547
dbSNP (classic)rs121912547
ClinGenrs121912547
ebirs121912547
HLIrs121912547
Exacrs121912547
Gnomadrs121912547
Varsomers121912547
LitVarrs121912547
Maprs121912547
PheGenIrs121912547
Biobankrs121912547
1000 genomesrs121912547
hgdprs121912547
ensemblrs121912547
geneviewrs121912547
scholarrs121912547
googlers121912547
pharmgkbrs121912547
gwascentralrs121912547
openSNPrs121912547
23andMers121912547
SNPshotrs121912547
SNPdbers121912547
MSV3drs121912547
GWAS Ctlgrs121912547
Max Magnitude0
OMIM142994
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121912547(A;A)
Alt rs121912547(A;A)
Reference Rs121912547(C;C)
Significance Pathogenic
Disease Currarino triad
Variation info
Gene MNX1-AS1 MNX1
CLNDBN Currarino triad
Reversed 1
HGVS NC_000007.13:g.156802553G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000015978.25,