rs72648356

Orientation

minus

Stabilized

minus

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

Make rs72648356(A;A)

Make rs72648356(A;G)

Reference

GRCh38 38.1/141

Chromosome

17

Position

50194365

Gene

COL1A1

is a	snp
is	mentioned by
dbSNP	rs72648356
dbSNP (classic)	rs72648356
ClinGen	rs72648356
ebi	rs72648356
HLI	rs72648356
Exac	rs72648356
Gnomad	rs72648356
Varsome	rs72648356
LitVar	rs72648356
Map	rs72648356
PheGenI	rs72648356
Biobank	rs72648356
1000 genomes	rs72648356
hgdp	rs72648356
ensembl	rs72648356
geneview	rs72648356
scholar	rs72648356
google	rs72648356
pharmgkb	rs72648356
gwascentral	rs72648356
openSNP	rs72648356
23andMe	rs72648356
SNPshot	rs72648356
SNPdbe	rs72648356
MSV3d	rs72648356
GWAS Ctlg	rs72648356

Max Magnitude

0

OMIM	120150
Desc
Variant	0047
Related	also

ClinVar
Risk	rs72648356(A;A)
Alt	rs72648356(A;A)
Reference	Rs72648356(G;G)
Significance	Pathogenic
Disease	Osteogenesis imperfecta
Variation	info
Gene	COL1A1
CLNDBN	Osteogenesis imperfecta, recessive perinatal lethal
Reversed	1
HGVS	NC_000017.10:g.48271726C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000018870.27,