rs72659343

Orientation

plus

Stabilized

plus

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

Make rs72659343(G;T)

Make rs72659343(T;T)

Reference

GRCh38 38.1/141

Chromosome

7

Position

94428367

Gene

COL1A2

is a	snp
is	mentioned by
dbSNP	rs72659343
dbSNP (classic)	rs72659343
ClinGen	rs72659343
ebi	rs72659343
HLI	rs72659343
Exac	rs72659343
Gnomad	rs72659343
Varsome	rs72659343
LitVar	rs72659343
Map	rs72659343
PheGenI	rs72659343
Biobank	rs72659343
1000 genomes	rs72659343
hgdp	rs72659343
ensembl	rs72659343
geneview	rs72659343
scholar	rs72659343
google	rs72659343
pharmgkb	rs72659343
gwascentral	rs72659343
openSNP	rs72659343
23andMe	rs72659343
SNPshot	rs72659343
SNPdbe	rs72659343
MSV3d	rs72659343
GWAS Ctlg	rs72659343

Max Magnitude

0

OMIM	120160
Desc
Variant	0051
Related	also

ClinVar
Risk	rs72659343(A;A) rs72659343(T;T)
Alt	rs72659343(A;A) rs72659343(T;T)
Reference	Rs72659343(G;G)
Significance	Pathogenic
Disease	Ehlers-Danlos syndrome
Variation	info
Gene	COL1A2
CLNDBN	Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form
Reversed	0
HGVS	NC_000007.13:g.94057679G>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000018820.27,