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rs587777737

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs587777737(C;C)
Make rs587777737(C;T)
ReferenceGRCh38 38.1/142
Chromosome8
Position101619632
GeneGRHL2
is asnp
is mentioned by
dbSNPrs587777737
dbSNP (classic)rs587777737
ClinGenrs587777737
ebirs587777737
HLIrs587777737
Exacrs587777737
Gnomadrs587777737
Varsomers587777737
LitVarrs587777737
Maprs587777737
PheGenIrs587777737
Biobankrs587777737
1000 genomesrs587777737
hgdprs587777737
ensemblrs587777737
geneviewrs587777737
scholarrs587777737
googlers587777737
pharmgkbrs587777737
gwascentralrs587777737
openSNPrs587777737
23andMers587777737
SNPshotrs587777737
SNPdbers587777737
MSV3drs587777737
GWAS Ctlgrs587777737
Max Magnitude0
ClinVar
Risk rs587777737(C;C)
Alt rs587777737(C;C)
Reference Rs587777737(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.102631860T>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000144237.3,