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rs387906973

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs387906973(C;T)
Make rs387906973(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position238848570
GeneING5, TWIST2
is asnp
is mentioned by
dbSNPrs387906973
ebirs387906973
HLIrs387906973
Exacrs387906973
Varsomers387906973
Maprs387906973
PheGenIrs387906973
hapmaprs387906973
1000 genomesrs387906973
hgdprs387906973
ensemblrs387906973
gopubmedrs387906973
geneviewrs387906973
scholarrs387906973
googlers387906973
pharmgkbrs387906973
gwascentralrs387906973
openSNPrs387906973
23andMers387906973
23andMe allrs387906973
SNP Nexus

SNPshotrs387906973
SNPdbers387906973
MSV3drs387906973
GWAS Ctlgrs387906973
Max Magnitude0
ClinVar
Risk rs387906973(T;T)
Alt rs387906973(T;T)
Reference rs387906973(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.239757211C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000023655.3,