rs80338765

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(G;G)	0	common in clinvar

Make rs80338765(A;A)

Make rs80338765(A;G)

Reference

GRCh38 38.1/141

Chromosome

14

Position

91891236

Gene

FBLN5

is a	snp
is	mentioned by
dbSNP	rs80338765
dbSNP (classic)	rs80338765
ClinGen	rs80338765
ebi	rs80338765
HLI	rs80338765
Exac	rs80338765
Gnomad	rs80338765
Varsome	rs80338765
LitVar	rs80338765
Map	rs80338765
PheGenI	rs80338765
Biobank	rs80338765
1000 genomes	rs80338765
hgdp	rs80338765
ensembl	rs80338765
geneview	rs80338765
scholar	rs80338765
google	rs80338765
pharmgkb	rs80338765
gwascentral	rs80338765
openSNP	rs80338765
23andMe	rs80338765
SNPshot	rs80338765
SNPdbe	rs80338765
MSV3d	rs80338765
GWAS Ctlg	rs80338765

Max Magnitude

0

ClinVar
Risk	rs80338765(A;A)
Alt	rs80338765(A;A)
Reference	Rs80338765(G;G)
Significance	Pathogenic
Disease	Autosomal recessive cutis laxa type IA Macular degeneration Cutis Laxa not specified
Variation	info
Gene	FBLN5
CLNDBN	Autosomal recessive cutis laxa type IA Macular degeneration Cutis Laxa, Dominant/Recessive not specified
Reversed	1
HGVS	NC_000014.8:g.92357580C>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000020641.1, RCV000316304.1, RCV000375520.1, RCV000427840.1,