rs397515430

Orientation

plus

Stabilized

plus

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

Make rs397515430(C;T)

Make rs397515430(T;T)

Reference

GRCh38 38.1/141

Chromosome

19

Position

40608315

Gene

LTBP4

is a	snp
is	mentioned by
dbSNP	rs397515430
dbSNP (classic)	rs397515430
ClinGen	rs397515430
ebi	rs397515430
HLI	rs397515430
Exac	rs397515430
Gnomad	rs397515430
Varsome	rs397515430
LitVar	rs397515430
Map	rs397515430
PheGenI	rs397515430
Biobank	rs397515430
1000 genomes	rs397515430
hgdp	rs397515430
ensembl	rs397515430
geneview	rs397515430
scholar	rs397515430
google	rs397515430
pharmgkb	rs397515430
gwascentral	rs397515430
openSNP	rs397515430
23andMe	rs397515430
SNPshot	rs397515430
SNPdbe	rs397515430
MSV3d	rs397515430
GWAS Ctlg	rs397515430

Max Magnitude

0

ClinVar
Risk	rs397515430(T;T)
Alt	rs397515430(T;T)
Reference	Rs397515430(C;C)
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.41114221C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000033129.3,