Have questions? Visit https://www.reddit.com/r/SNPedia

rs397515430

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397515430(C;T)
Make rs397515430(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position40608315
GeneLTBP4
is asnp
is mentioned by
dbSNPrs397515430
ebirs397515430
HLIrs397515430
Exacrs397515430
Varsomers397515430
Maprs397515430
PheGenIrs397515430
hapmaprs397515430
1000 genomesrs397515430
hgdprs397515430
ensemblrs397515430
gopubmedrs397515430
geneviewrs397515430
scholarrs397515430
googlers397515430
pharmgkbrs397515430
gwascentralrs397515430
openSNPrs397515430
23andMers397515430
23andMe allrs397515430
SNP Nexus

SNPshotrs397515430
SNPdbers397515430
MSV3drs397515430
GWAS Ctlgrs397515430
Max Magnitude0
ClinVar
Risk rs397515430(T;T)
Alt rs397515430(T;T)
Reference rs397515430(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.41114221C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000033129.3,