rs72653136

Orientation

minus

Stabilized

minus

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

Make rs72653136(A;A)

Make rs72653136(A;G)

Reference

GRCh38 38.1/141

Chromosome

17

Position

50190027

Gene

COL1A1

is a	snp
is	mentioned by
dbSNP	rs72653136
dbSNP (classic)	rs72653136
ClinGen	rs72653136
ebi	rs72653136
HLI	rs72653136
Exac	rs72653136
Gnomad	rs72653136
Varsome	rs72653136
LitVar	rs72653136
Map	rs72653136
PheGenI	rs72653136
Biobank	rs72653136
1000 genomes	rs72653136
hgdp	rs72653136
ensembl	rs72653136
geneview	rs72653136
scholar	rs72653136
google	rs72653136
pharmgkb	rs72653136
gwascentral	rs72653136
openSNP	rs72653136
23andMe	rs72653136
SNPshot	rs72653136
SNPdbe	rs72653136
MSV3d	rs72653136
GWAS Ctlg	rs72653136

Max Magnitude

0

OMIM	120150
Desc
Variant	0008
Related	also

ClinVar
Risk	rs72653136(A;A)
Alt	rs72653136(A;A)
Reference	Rs72653136(G;G)
Significance	Pathogenic
Disease	Osteogenesis imperfecta
Variation	info
Gene	COL1A1
CLNDBN	Osteogenesis imperfecta, recessive perinatal lethal
Reversed	1
HGVS	NC_000017.10:g.48267388C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000018832.27,