rs72667022

Orientation

minus

Stabilized

minus

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

Make rs72667022(A;A)

Make rs72667022(A;G)

Reference

GRCh38.p2 38.2/147

Chromosome

17

Position

50198433

Gene

COL1A1

is a	snp
is	mentioned by
dbSNP	rs72667022
dbSNP (classic)	rs72667022
ClinGen	rs72667022
ebi	rs72667022
HLI	rs72667022
Exac	rs72667022
Gnomad	rs72667022
Varsome	rs72667022
LitVar	rs72667022
Map	rs72667022
PheGenI	rs72667022
Biobank	rs72667022
1000 genomes	rs72667022
hgdp	rs72667022
ensembl	rs72667022
geneview	rs72667022
scholar	rs72667022
google	rs72667022
pharmgkb	rs72667022
gwascentral	rs72667022
openSNP	rs72667022
23andMe	rs72667022
SNPshot	rs72667022
SNPdbe	rs72667022
MSV3d	rs72667022
GWAS Ctlg	rs72667022

Max Magnitude

0

ClinVar
Risk	rs72667022(A;A)
Alt	rs72667022(A;A)
Reference	Rs72667022(G;G)
Significance	Pathogenic
Disease	Ehlers-Danlos syndrome
Variation	info
Gene	COL1A1
CLNDBN	Ehlers-Danlos syndrome, type 7A
Reversed	1
HGVS	NC_000017.10:g.48275794C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000018852.24,