rs72653170

Orientation

minus

Stabilized

minus

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

Make rs72653170(C;T)

Make rs72653170(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

50188908

Gene

COL1A1

is a	snp
is	mentioned by
dbSNP	rs72653170
dbSNP (classic)	rs72653170
ClinGen	rs72653170
ebi	rs72653170
HLI	rs72653170
Exac	rs72653170
Gnomad	rs72653170
Varsome	rs72653170
LitVar	rs72653170
Map	rs72653170
PheGenI	rs72653170
Biobank	rs72653170
1000 genomes	rs72653170
hgdp	rs72653170
ensembl	rs72653170
geneview	rs72653170
scholar	rs72653170
google	rs72653170
pharmgkb	rs72653170
gwascentral	rs72653170
openSNP	rs72653170
23andMe	rs72653170
SNPshot	rs72653170
SNPdbe	rs72653170
MSV3d	rs72653170
GWAS Ctlg	rs72653170

Max Magnitude

0

OMIM	120150
Desc
Variant	0063
Related	also

ClinVar
Risk	rs72653170(T;T)
Alt	rs72653170(T;T)
Reference	Rs72653170(C;C)
Significance	Pathogenic
Disease	Infantile cortical hyperostosis not provided
Variation	info
Gene	COL1A1
CLNDBN	Infantile cortical hyperostosis not provided
Reversed	1
HGVS	NC_000017.10:g.48266269G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000018889.24, RCV000420639.1,