rs397514672

Orientation

minus

Stabilized

minus

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

Make rs397514672(C;T)

Make rs397514672(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

50185866

Gene

COL1A1

is a	snp
is	mentioned by
dbSNP	rs397514672
dbSNP (classic)	rs397514672
ClinGen	rs397514672
ebi	rs397514672
HLI	rs397514672
Exac	rs397514672
Gnomad	rs397514672
Varsome	rs397514672
LitVar	rs397514672
Map	rs397514672
PheGenI	rs397514672
Biobank	rs397514672
1000 genomes	rs397514672
hgdp	rs397514672
ensembl	rs397514672
geneview	rs397514672
scholar	rs397514672
google	rs397514672
pharmgkb	rs397514672
gwascentral	rs397514672
openSNP	rs397514672
23andMe	rs397514672
SNPshot	rs397514672
SNPdbe	rs397514672
MSV3d	rs397514672
GWAS Ctlg	rs397514672

Max Magnitude

0

ClinVar
Risk	rs397514672(T;T)
Alt	rs397514672(T;T)
Reference	Rs397514672(C;C)
Significance	Pathogenic
Disease	Osteogenesis imperfecta
Variation	info
Gene	COL1A1
CLNDBN	Osteogenesis imperfecta, recessive perinatal lethal
Reversed	1
HGVS	NC_000017.10:g.48263227G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000034355.28,