rs80338766

Orientation

minus

Stabilized

minus

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

Make rs80338766(C;C)

Make rs80338766(C;T)

Reference

GRCh38 38.1/141

Chromosome

14

Position

91887283

Gene

FBLN5

is a	snp
is	mentioned by
dbSNP	rs80338766
dbSNP (classic)	rs80338766
ClinGen	rs80338766
ebi	rs80338766
HLI	rs80338766
Exac	rs80338766
Gnomad	rs80338766
Varsome	rs80338766
LitVar	rs80338766
Map	rs80338766
PheGenI	rs80338766
Biobank	rs80338766
1000 genomes	rs80338766
hgdp	rs80338766
ensembl	rs80338766
geneview	rs80338766
scholar	rs80338766
google	rs80338766
pharmgkb	rs80338766
gwascentral	rs80338766
openSNP	rs80338766
23andMe	rs80338766
SNPshot	rs80338766
SNPdbe	rs80338766
MSV3d	rs80338766
GWAS Ctlg	rs80338766

Max Magnitude

0

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 UniProtKB (protein)
CLNACC	RCV000020642.4,