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rs28935498

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs28935498(C;T)
Make rs28935498(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position54470182
GeneFGD1
is asnp
is mentioned by
dbSNPrs28935498
dbSNP (classic)rs28935498
ClinGenrs28935498
ebirs28935498
HLIrs28935498
Exacrs28935498
Gnomadrs28935498
Varsomers28935498
LitVarrs28935498
Maprs28935498
PheGenIrs28935498
Biobankrs28935498
1000 genomesrs28935498
hgdprs28935498
ensemblrs28935498
geneviewrs28935498
scholarrs28935498
googlers28935498
pharmgkbrs28935498
gwascentralrs28935498
openSNPrs28935498
23andMers28935498
SNPshotrs28935498
SNPdbers28935498
MSV3drs28935498
GWAS Ctlgrs28935498
GMAF0.0006046
Max Magnitude0
OMIM300546
Desc
Variant0005
Relatedalso


ClinVar
Risk rs28935498(T;T)
Alt rs28935498(T;T)
Reference Rs28935498(C;C)
Significance Pathogenic
Disease Syndromic X-linked mental retardation 16 not provided
Variation info
Gene FGD1
CLNDBN Syndromic X-linked mental retardation 16 not provided
Reversed 1
HGVS NC_000023.10:g.54496615G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000011575.8, RCV000224897.1,