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rs747013505

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs747013505(-;-)
Make rs747013505(-;T)
ReferenceGRCh38.p2 38.2/144
Chromosome19
Position40600091
GeneLTBP4
is asnp
is mentioned by
dbSNPrs747013505
ebirs747013505
HLIrs747013505
Exacrs747013505
Varsomers747013505
Maprs747013505
PheGenIrs747013505
hapmaprs747013505
1000 genomesrs747013505
hgdprs747013505
ensemblrs747013505
gopubmedrs747013505
geneviewrs747013505
scholarrs747013505
googlers747013505
pharmgkbrs747013505
gwascentralrs747013505
openSNPrs747013505
23andMers747013505
23andMe allrs747013505
SNP Nexus

SNPshotrs747013505
SNPdbers747013505
MSV3drs747013505
GWAS Ctlgrs747013505
Max Magnitude0
ClinVar
Risk rs747013505(;)
Alt rs747013505(;)
Reference rs747013505(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.41105997delT
CLNSRC
CLNACC RCV000169666.1,