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rs606231160

From SNPedia

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Geno Mag Summary
(C;C) 0 common in clinvar
Make rs606231160(-;-)
Make rs606231160(-;C)
ReferenceGRCh38.p2 38.2/144
Chromosome19
Position40605739
GeneLTBP4
is asnp
is mentioned by
dbSNPrs606231160
ebirs606231160
HLIrs606231160
Exacrs606231160
Varsomers606231160
Maprs606231160
PheGenIrs606231160
hapmaprs606231160
1000 genomesrs606231160
hgdprs606231160
ensemblrs606231160
gopubmedrs606231160
geneviewrs606231160
scholarrs606231160
googlers606231160
pharmgkbrs606231160
gwascentralrs606231160
openSNPrs606231160
23andMers606231160
23andMe allrs606231160
SNP Nexus

SNPshotrs606231160
SNPdbers606231160
MSV3drs606231160
GWAS Ctlgrs606231160
Max Magnitude0
ClinVar
Risk rs606231160(;)
Alt rs606231160(;)
Reference rs606231160(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.41111645delC
CLNSRC OMIM Allelic Variant
CLNACC RCV000005727.4,