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rs137853202

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137853202(C;T)
Make rs137853202(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position85663814
GeneSFTPB
is asnp
is mentioned by
dbSNPrs137853202
ebirs137853202
HLIrs137853202
Exacrs137853202
Varsomers137853202
Maprs137853202
PheGenIrs137853202
hapmaprs137853202
1000 genomesrs137853202
hgdprs137853202
ensemblrs137853202
gopubmedrs137853202
geneviewrs137853202
scholarrs137853202
googlers137853202
pharmgkbrs137853202
gwascentralrs137853202
openSNPrs137853202
23andMers137853202
23andMe allrs137853202
SNP Nexus

SNPshotrs137853202
SNPdbers137853202
MSV3drs137853202
GWAS Ctlgrs137853202
Max Magnitude0
OMIM178640
Desc
Variant0004
Relatedalso
ClinVar
Risk rs137853202(T;T)
Alt rs137853202(T;T)
Reference rs137853202(C;C)
Significance Pathogenic
Disease Surfactant metabolism dysfunction
Variation info
Gene SFTPB
CLNDBN Surfactant metabolism dysfunction, pulmonary, 1
Reversed 1
HGVS NC_000002.11:g.85890937G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000014091.24,