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rs80338766

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs80338766(C;C)
Make rs80338766(C;T)
ReferenceGRCh38 38.1/141
Chromosome14
Position91887283
GeneFBLN5
is asnp
is mentioned by
dbSNPrs80338766
ebirs80338766
HLIrs80338766
Exacrs80338766
Varsomers80338766
Maprs80338766
PheGenIrs80338766
hapmaprs80338766
1000 genomesrs80338766
hgdprs80338766
ensemblrs80338766
gopubmedrs80338766
geneviewrs80338766
scholarrs80338766
googlers80338766
pharmgkbrs80338766
gwascentralrs80338766
openSNPrs80338766
23andMers80338766
23andMe allrs80338766
SNP Nexus

SNPshotrs80338766
SNPdbers80338766
MSV3drs80338766
GWAS Ctlgrs80338766
Max Magnitude0
ClinVar
Risk rs80338766(C;C)
Alt rs80338766(C;C)
Reference rs80338766(T;T)
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.92353627A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000020642.3,