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rs797044471

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs797044471(-;C)
Make rs797044471(C;C)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position40627014
GeneLTBP4
is asnp
is mentioned by
dbSNPrs797044471
dbSNP (old)rs797044471
ClinGenrs797044471
ebirs797044471
HLIrs797044471
Exacrs797044471
Gnomadrs797044471
Varsomers797044471
Maprs797044471
PheGenIrs797044471
Biobankrs797044471
1000 genomesrs797044471
hgdprs797044471
ensemblrs797044471
gopubmedrs797044471
geneviewrs797044471
scholarrs797044471
googlers797044471
pharmgkbrs797044471
gwascentralrs797044471
openSNPrs797044471
23andMers797044471
23andMe allrs797044471
SNP Nexus

SNPshotrs797044471
SNPdbers797044471
MSV3drs797044471
GWAS Ctlgrs797044471
Max Magnitude0
ClinVar
Risk rs797044471(C;C)
Alt rs797044471(C;C)
Reference Rs797044471(-;-)
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.41132919dupC
CLNSRC OMIM Allelic Variant
CLNACC RCV000033130.3,