rs797044471

Orientation

plus

Stabilized

plus

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

Make rs797044471(-;C)

Make rs797044471(C;C)

Reference

GRCh38.p2 38.2/147

Chromosome

19

Position

40627014

Gene

LTBP4

is a	snp
is	mentioned by
dbSNP	rs797044471
dbSNP (classic)	rs797044471
ClinGen	rs797044471
ebi	rs797044471
HLI	rs797044471
Exac	rs797044471
Gnomad	rs797044471
Varsome	rs797044471
LitVar	rs797044471
Map	rs797044471
PheGenI	rs797044471
Biobank	rs797044471
1000 genomes	rs797044471
hgdp	rs797044471
ensembl	rs797044471
geneview	rs797044471
scholar	rs797044471
google	rs797044471
pharmgkb	rs797044471
gwascentral	rs797044471
openSNP	rs797044471
23andMe	rs797044471
SNPshot	rs797044471
SNPdbe	rs797044471
MSV3d	rs797044471
GWAS Ctlg	rs797044471

Max Magnitude

0

ClinVar
Risk	rs797044471(C;C)
Alt	rs797044471(C;C)
Reference	Rs797044471(-;-)
Significance	Pathogenic
Disease	Cutis laxa with severe pulmonary
Variation	info
Gene	LTBP4
CLNDBN	Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities
Reversed	0
HGVS	NC_000019.9:g.41132919dupC
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000033130.3,