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rs387906968

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs387906968(C;T)
Make rs387906968(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position209788553
GeneIRF6
is asnp
is mentioned by
dbSNPrs387906968
dbSNP (classic)rs387906968
ClinGenrs387906968
ebirs387906968
HLIrs387906968
Exacrs387906968
Gnomadrs387906968
Varsomers387906968
LitVarrs387906968
Maprs387906968
PheGenIrs387906968
Biobankrs387906968
1000 genomesrs387906968
hgdprs387906968
ensemblrs387906968
geneviewrs387906968
scholarrs387906968
googlers387906968
pharmgkbrs387906968
gwascentralrs387906968
openSNPrs387906968
23andMers387906968
SNPshotrs387906968
SNPdbers387906968
MSV3drs387906968
GWAS Ctlgrs387906968
Max Magnitude0
ClinVar
Risk rs387906968(T;T)
Alt rs387906968(T;T)
Reference Rs387906968(C;C)
Significance Pathogenic
Disease Popliteal pterygium syndrome
Variation info
Gene IRF6
CLNDBN Popliteal pterygium syndrome
Reversed 1
HGVS NC_000001.10:g.209961898G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000023631.3,