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rs587777738

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs587777738(A;A)
Make rs587777738(A;T)
ReferenceGRCh38 38.1/142
Chromosome8
Position101632325
GeneGRHL2
is asnp
is mentioned by
dbSNPrs587777738
dbSNP (classic)rs587777738
ClinGenrs587777738
ebirs587777738
HLIrs587777738
Exacrs587777738
Gnomadrs587777738
Varsomers587777738
LitVarrs587777738
Maprs587777738
PheGenIrs587777738
Biobankrs587777738
1000 genomesrs587777738
hgdprs587777738
ensemblrs587777738
geneviewrs587777738
scholarrs587777738
googlers587777738
pharmgkbrs587777738
gwascentralrs587777738
openSNPrs587777738
23andMers587777738
SNPshotrs587777738
SNPdbers587777738
MSV3drs587777738
GWAS Ctlgrs587777738
Max Magnitude0
ClinVar
Risk rs587777738(A;A)
Alt rs587777738(A;A)
Reference Rs587777738(T;T)
Significance Pathogenic
Disease Ectodermal dysplasia/short stature syndrome
Variation info
Gene GRHL2
CLNDBN Ectodermal dysplasia/short stature syndrome
Reversed 0
HGVS NC_000008.10:g.102644553T>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000144238.3,