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rs727504649

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs727504649(A;C)
Make rs727504649(C;C)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position69957104
GeneEDA
is asnp
is mentioned by
dbSNPrs727504649
dbSNP (classic)rs727504649
ClinGenrs727504649
ebirs727504649
HLIrs727504649
Exacrs727504649
Gnomadrs727504649
Varsomers727504649
LitVarrs727504649
Maprs727504649
PheGenIrs727504649
Biobankrs727504649
1000 genomesrs727504649
hgdprs727504649
ensemblrs727504649
geneviewrs727504649
scholarrs727504649
googlers727504649
pharmgkbrs727504649
gwascentralrs727504649
openSNPrs727504649
23andMers727504649
SNPshotrs727504649
SNPdbers727504649
MSV3drs727504649
GWAS Ctlgrs727504649
Max Magnitude0
ClinVar
Risk rs727504649(C;C)
Alt rs727504649(C;C)
Reference Rs727504649(A;A)
Significance Pathogenic
Disease Hypohidrotic ectodermal dysplasia
Variation info
Gene EDA
CLNDBN Hypohidrotic ectodermal dysplasia
Reversed 0
HGVS NC_000023.10:g.69176954A>C
CLNSRC UniProtKB (protein)
CLNACC RCV000155912.1,