rs72659324

Orientation

plus

Stabilized

plus

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

Make rs72659324(C;C)

Make rs72659324(C;T)

Reference

GRCh38.p2 38.2/146

Chromosome

7

Position

94426532

Gene

COL1A2

is a	snp
is	mentioned by
dbSNP	rs72659324
dbSNP (classic)	rs72659324
ClinGen	rs72659324
ebi	rs72659324
HLI	rs72659324
Exac	rs72659324
Gnomad	rs72659324
Varsome	rs72659324
LitVar	rs72659324
Map	rs72659324
PheGenI	rs72659324
Biobank	rs72659324
1000 genomes	rs72659324
hgdp	rs72659324
ensembl	rs72659324
geneview	rs72659324
scholar	rs72659324
google	rs72659324
pharmgkb	rs72659324
gwascentral	rs72659324
openSNP	rs72659324
23andMe	rs72659324
SNPshot	rs72659324
SNPdbe	rs72659324
MSV3d	rs72659324
GWAS Ctlg	rs72659324

Max Magnitude

0

ClinVar
Risk	rs72659324(C;C)
Alt	rs72659324(C;C)
Reference	Rs72659324(T;T)
Significance	Pathogenic
Disease	Osteogenesis imperfecta/Ehlers-Danlos crossover syndrome
Variation	info
Gene	COL1A2
CLNDBN	Osteogenesis imperfecta/Ehlers-Danlos crossover syndrome
Reversed	0
HGVS	NC_000007.13:g.94055844T>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000018818.25,