rs72653154

Orientation

minus

Stabilized

minus

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

Make rs72653154(G;T)

Make rs72653154(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

50189430

Gene

COL1A1

is a	snp
is	mentioned by
dbSNP	rs72653154
dbSNP (classic)	rs72653154
ClinGen	rs72653154
ebi	rs72653154
HLI	rs72653154
Exac	rs72653154
Gnomad	rs72653154
Varsome	rs72653154
LitVar	rs72653154
Map	rs72653154
PheGenI	rs72653154
Biobank	rs72653154
1000 genomes	rs72653154
hgdp	rs72653154
ensembl	rs72653154
geneview	rs72653154
scholar	rs72653154
google	rs72653154
pharmgkb	rs72653154
gwascentral	rs72653154
openSNP	rs72653154
23andMe	rs72653154
SNPshot	rs72653154
SNPdbe	rs72653154
MSV3d	rs72653154
GWAS Ctlg	rs72653154

Max Magnitude

0

OMIM	120150
Desc
Variant	0011
Related	also

ClinVar
Risk	rs72653154(T;T)
Alt	rs72653154(T;T)
Reference	Rs72653154(G;G)
Significance	Pathogenic
Disease	Osteogenesis imperfecta
Variation	info
Gene	COL1A1
CLNDBN	Osteogenesis imperfecta, recessive perinatal lethal
Reversed	1
HGVS	NC_000017.10:g.48266791C>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000018835.27,