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rs80338765

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs80338765(A;A)
Make rs80338765(A;G)
ReferenceGRCh38 38.1/141
Chromosome14
Position91891236
GeneFBLN5
is asnp
is mentioned by
dbSNPrs80338765
ebirs80338765
HLIrs80338765
Exacrs80338765
Varsomers80338765
Maprs80338765
PheGenIrs80338765
hapmaprs80338765
1000 genomesrs80338765
hgdprs80338765
ensemblrs80338765
gopubmedrs80338765
geneviewrs80338765
scholarrs80338765
googlers80338765
pharmgkbrs80338765
gwascentralrs80338765
openSNPrs80338765
23andMers80338765
23andMe allrs80338765
SNP Nexus

SNPshotrs80338765
SNPdbers80338765
MSV3drs80338765
GWAS Ctlgrs80338765
Max Magnitude0
ClinVar
Risk rs80338765(A;A)
Alt rs80338765(A;A)
Reference rs80338765(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.92357580C>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000020641.1,