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rs28935497

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs28935497(A;A)
Make rs28935497(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position54456233
GeneFGD1
is asnp
is mentioned by
dbSNPrs28935497
dbSNP (classic)rs28935497
ClinGenrs28935497
ebirs28935497
HLIrs28935497
Exacrs28935497
Gnomadrs28935497
Varsomers28935497
LitVarrs28935497
Maprs28935497
PheGenIrs28935497
Biobankrs28935497
1000 genomesrs28935497
hgdprs28935497
ensemblrs28935497
geneviewrs28935497
scholarrs28935497
googlers28935497
pharmgkbrs28935497
gwascentralrs28935497
openSNPrs28935497
23andMers28935497
SNPshotrs28935497
SNPdbers28935497
MSV3drs28935497
GWAS Ctlgrs28935497
Max Magnitude0
OMIM300546
Desc
Variant0002
Relatedalso


ClinVar
Risk rs28935497(A;A)
Alt rs28935497(A;A)
Reference Rs28935497(G;G)
Significance Pathogenic
Disease Aarskog syndrome not provided
Variation info
Gene FGD1
CLNDBN Aarskog syndrome not provided
Reversed 1
HGVS NC_000023.10:g.54482666C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000011572.4, RCV000309625.1,