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rs137852353

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137852353(A;A)
Make rs137852353(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position1290449
GeneCSF2RA
is asnp
is mentioned by
dbSNPrs137852353
dbSNP (classic)rs137852353
ClinGenrs137852353
ebirs137852353
HLIrs137852353
Exacrs137852353
Gnomadrs137852353
Varsomers137852353
LitVarrs137852353
Maprs137852353
PheGenIrs137852353
Biobankrs137852353
1000 genomesrs137852353
hgdprs137852353
ensemblrs137852353
geneviewrs137852353
scholarrs137852353
googlers137852353
pharmgkbrs137852353
gwascentralrs137852353
openSNPrs137852353
23andMers137852353
SNPshotrs137852353
SNPdbers137852353
MSV3drs137852353
GWAS Ctlgrs137852353
Max Magnitude0
OMIM306250
Desc
Variant0002
Relatedalso
ClinVar
Risk rs137852353(A;A) rs137852353(C;C)
Alt rs137852353(A;A) rs137852353(C;C)
Reference Rs137852353(G;G)
Significance Pathogenic
Disease Surfactant metabolism dysfunction
Variation info
Gene CSF2RA
CLNDBN Surfactant metabolism dysfunction, pulmonary, 4
Reversed 0
HGVS NC_000023.10:g.1409342G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000011068.3,