rs72645347

Orientation

minus

Stabilized

minus

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

Make rs72645347(C;T)

Make rs72645347(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

50196337

Gene

COL1A1

is a	snp
is	mentioned by
dbSNP	rs72645347
dbSNP (classic)	rs72645347
ClinGen	rs72645347
ebi	rs72645347
HLI	rs72645347
Exac	rs72645347
Gnomad	rs72645347
Varsome	rs72645347
LitVar	rs72645347
Map	rs72645347
PheGenI	rs72645347
Biobank	rs72645347
1000 genomes	rs72645347
hgdp	rs72645347
ensembl	rs72645347
geneview	rs72645347
scholar	rs72645347
google	rs72645347
pharmgkb	rs72645347
gwascentral	rs72645347
openSNP	rs72645347
23andMe	rs72645347
SNPshot	rs72645347
SNPdbe	rs72645347
MSV3d	rs72645347
GWAS Ctlg	rs72645347

Max Magnitude

0

OMIM	120150
Desc
Variant	0059
Related	also

ClinVar
Risk	rs72645347(T;T)
Alt	rs72645347(T;T)
Reference	Rs72645347(C;C)
Significance	Pathogenic
Disease	Ehlers-Danlos syndrome Bruising susceptibility Fragile skin Joint hypermobility
Variation	info
Gene	COL1A1
CLNDBN	Ehlers-Danlos syndrome, classic type Bruising susceptibility Fragile skin Joint hypermobility
Reversed	1
HGVS	NC_000017.10:g.48273698G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000018884.29, RCV000415259.1,