Have questions? Visit https://www.reddit.com/r/SNPedia

rs80338767

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs80338767(G;T)
Make rs80338767(T;T)
ReferenceGRCh38 38.1/141
Chromosome14
Position91877501
GeneFBLN5
is asnp
is mentioned by
dbSNPrs80338767
ebirs80338767
HLIrs80338767
Exacrs80338767
Varsomers80338767
Maprs80338767
PheGenIrs80338767
hapmaprs80338767
1000 genomesrs80338767
hgdprs80338767
ensemblrs80338767
gopubmedrs80338767
geneviewrs80338767
scholarrs80338767
googlers80338767
pharmgkbrs80338767
gwascentralrs80338767
openSNPrs80338767
23andMers80338767
23andMe allrs80338767
SNP Nexus

SNPshotrs80338767
SNPdbers80338767
MSV3drs80338767
GWAS Ctlgrs80338767
Max Magnitude0
ClinVar
Risk rs80338767(T;T)
Alt rs80338767(T;T)
Reference rs80338767(G;G)
Significance Pathogenic
Disease Autosomal recessive cutis laxa type IA
Variation info
Gene FBLN5
CLNDBN Autosomal recessive cutis laxa type IA
Reversed 1
HGVS NC_000014.8:g.92343845C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000020639.3,