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rs267607229

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs267607229(G;G)
Make rs267607229(G;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position40605768
GeneLTBP4
is asnp
is mentioned by
dbSNPrs267607229
ebirs267607229
HLIrs267607229
Exacrs267607229
Varsomers267607229
Maprs267607229
PheGenIrs267607229
hapmaprs267607229
1000 genomesrs267607229
hgdprs267607229
ensemblrs267607229
gopubmedrs267607229
geneviewrs267607229
scholarrs267607229
googlers267607229
pharmgkbrs267607229
gwascentralrs267607229
openSNPrs267607229
23andMers267607229
23andMe allrs267607229
SNP Nexus

SNPshotrs267607229
SNPdbers267607229
MSV3drs267607229
GWAS Ctlgrs267607229
Max Magnitude0
ClinVar
Risk rs267607229(G;G)
Alt rs267607229(G;G)
Reference rs267607229(T;T)
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.41111674T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000005729.2,