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rs606231159

From SNPedia

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Geno Mag Summary
(A;A) 0 common in clinvar
Make rs606231159(-;-)
Make rs606231159(-;A)
ReferenceGRCh38.p2 38.2/144
Chromosome19
Position40622647
GeneLTBP4
is asnp
is mentioned by
dbSNPrs606231159
ebirs606231159
HLIrs606231159
Exacrs606231159
Varsomers606231159
Maprs606231159
PheGenIrs606231159
hapmaprs606231159
1000 genomesrs606231159
hgdprs606231159
ensemblrs606231159
gopubmedrs606231159
geneviewrs606231159
scholarrs606231159
googlers606231159
pharmgkbrs606231159
gwascentralrs606231159
openSNPrs606231159
23andMers606231159
23andMe allrs606231159
SNP Nexus

SNPshotrs606231159
SNPdbers606231159
MSV3drs606231159
GWAS Ctlgrs606231159
Max Magnitude0
ClinVar
Risk rs606231159(;)
Alt rs606231159(;)
Reference rs606231159(A;A)
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.41128552delA
CLNSRC OMIM Allelic Variant
CLNACC RCV000005726.4,