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rs267607228

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs267607228(A;A)
Make rs267607228(A;C)
ReferenceGRCh38 38.1/141
Chromosome19
Position40613453
GeneLTBP4
is asnp
is mentioned by
dbSNPrs267607228
ebirs267607228
HLIrs267607228
Exacrs267607228
Varsomers267607228
Maprs267607228
PheGenIrs267607228
hapmaprs267607228
1000 genomesrs267607228
hgdprs267607228
ensemblrs267607228
gopubmedrs267607228
geneviewrs267607228
scholarrs267607228
googlers267607228
pharmgkbrs267607228
gwascentralrs267607228
openSNPrs267607228
23andMers267607228
23andMe allrs267607228
SNP Nexus

SNPshotrs267607228
SNPdbers267607228
MSV3drs267607228
GWAS Ctlgrs267607228
Max Magnitude0
ClinVar
Risk rs267607228(A;A)
Alt rs267607228(A;A)
Reference rs267607228(C;C)
Significance Pathogenic
Disease Cutis laxa with severe pulmonary
Variation info
Gene LTBP4
CLNDBN Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities
Reversed 0
HGVS NC_000019.9:g.41119359C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000005728.3,