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rs672601313

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs672601313(C;T)
Make rs672601313(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome22
Position36930468
GeneCSF2RB
is asnp
is mentioned by
dbSNPrs672601313
dbSNP (classic)rs672601313
ClinGenrs672601313
ebirs672601313
HLIrs672601313
Exacrs672601313
Gnomadrs672601313
Varsomers672601313
LitVarrs672601313
Maprs672601313
PheGenIrs672601313
Biobankrs672601313
1000 genomesrs672601313
hgdprs672601313
ensemblrs672601313
geneviewrs672601313
scholarrs672601313
googlers672601313
pharmgkbrs672601313
gwascentralrs672601313
openSNPrs672601313
23andMers672601313
SNPshotrs672601313
SNPdbers672601313
MSV3drs672601313
GWAS Ctlgrs672601313
Max Magnitude0
ClinVar
Risk rs672601313(A;A) rs672601313(T;T)
Alt rs672601313(A;A) rs672601313(T;T)
Reference Rs672601313(C;C)
Significance Pathogenic
Disease Surfactant metabolism dysfunction
Variation info
Gene CSF2RB
CLNDBN Surfactant metabolism dysfunction, pulmonary, 5
Reversed 0
HGVS NC_000022.10:g.37326510C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000149403.2,