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rs606231161

From SNPedia

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Geno Mag Summary
(;) 0 common in clinvar
Make rs606231161(-;-)
Make rs606231161(-;C)
Make rs606231161(C;C)
ReferenceGRCh38.p2 38.2/144
Chromosome19
Position40627026
GeneLTBP4
is asnp
is mentioned by
dbSNPrs606231161
ebirs606231161
HLIrs606231161
Exacrs606231161
Varsomers606231161
Maprs606231161
PheGenIrs606231161
hapmaprs606231161
1000 genomesrs606231161
hgdprs606231161
ensemblrs606231161
gopubmedrs606231161
geneviewrs606231161
scholarrs606231161
googlers606231161
pharmgkbrs606231161
gwascentralrs606231161
openSNPrs606231161
23andMers606231161
23andMe allrs606231161
SNP Nexus

SNPshotrs606231161
SNPdbers606231161
MSV3drs606231161
GWAS Ctlgrs606231161
Max Magnitude0
ClinVar
Risk rs606231161(C;C)
Alt rs606231161(C;C)
Reference rs606231161(;)
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.41132931dupC
CLNSRC OMIM Allelic Variant
CLNACC RCV000005730.3,