rs80338767

Orientation

minus

Stabilized

minus

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

Make rs80338767(G;T)

Make rs80338767(T;T)

Reference

GRCh38 38.1/141

Chromosome

14

Position

91877501

Gene

FBLN5

is a	snp
is	mentioned by
dbSNP	rs80338767
dbSNP (classic)	rs80338767
ClinGen	rs80338767
ebi	rs80338767
HLI	rs80338767
Exac	rs80338767
Gnomad	rs80338767
Varsome	rs80338767
LitVar	rs80338767
Map	rs80338767
PheGenI	rs80338767
Biobank	rs80338767
1000 genomes	rs80338767
hgdp	rs80338767
ensembl	rs80338767
geneview	rs80338767
scholar	rs80338767
google	rs80338767
pharmgkb	rs80338767
gwascentral	rs80338767
openSNP	rs80338767
23andMe	rs80338767
SNPshot	rs80338767
SNPdbe	rs80338767
MSV3d	rs80338767
GWAS Ctlg	rs80338767

Max Magnitude

0

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	RCV000020639.4,