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rs387906974

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs387906974(C;T)
Make rs387906974(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position238848408
GeneING5, TWIST2
is asnp
is mentioned by
dbSNPrs387906974
ebirs387906974
HLIrs387906974
Exacrs387906974
Varsomers387906974
Maprs387906974
PheGenIrs387906974
hapmaprs387906974
1000 genomesrs387906974
hgdprs387906974
ensemblrs387906974
gopubmedrs387906974
geneviewrs387906974
scholarrs387906974
googlers387906974
pharmgkbrs387906974
gwascentralrs387906974
openSNPrs387906974
23andMers387906974
23andMe allrs387906974
SNP Nexus

SNPshotrs387906974
SNPdbers387906974
MSV3drs387906974
GWAS Ctlgrs387906974
Max Magnitude0
ClinVar
Risk rs387906974(T;T)
Alt rs387906974(T;T)
Reference rs387906974(C;C)
Significance Pathogenic
Disease Congenital ectodermal dysplasia of face
Variation info
Gene LOC100287387 TWIST2
CLNDBN Congenital ectodermal dysplasia of face
Reversed 0
HGVS NC_000002.11:g.239757049C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000023656.3,