rs183495554

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;T)	5.5	Ehlers-Danlos Syndrome (EDS) classic type
(T;T)	0	common in clinvar

Make rs183495554(C;C)

Make rs183495554(C;T)

Reference

GRCh38.p2 38.2/144

Chromosome

9

Position

134834960

Gene	COL5A1, LOC101448202

is a	snp
is	mentioned by
dbSNP	rs183495554
dbSNP (classic)	rs183495554
ClinGen	rs183495554
ebi	rs183495554
HLI	rs183495554
Exac	rs183495554
Gnomad	rs183495554
Varsome	rs183495554
LitVar	rs183495554
Map	rs183495554
PheGenI	rs183495554
Biobank	rs183495554
1000 genomes	rs183495554
hgdp	rs183495554
ensembl	rs183495554
geneview	rs183495554
scholar	rs183495554
google	rs183495554
pharmgkb	rs183495554
gwascentral	rs183495554
openSNP	rs183495554
23andMe	rs183495554
SNPshot	rs183495554
SNPdbe	rs183495554
MSV3d	rs183495554
GWAS Ctlg	rs183495554

Max Magnitude

5.5

ClinVar
Risk	rs183495554(A;A) rs183495554(C;C)
Alt	rs183495554(A;A) rs183495554(C;C)
Reference	Rs183495554(T;T)
Significance	Pathogenic
Disease	Ehlers-Danlos syndrome not specified Ehlers-Danlos syndrome
Variation	info
Gene	COL5A1
CLNDBN	Ehlers-Danlos syndrome, classic type not specified Ehlers-Danlos syndrome, type 7A
Reversed	0
HGVS	NC_000009.11:g.137726806T>A; NC_000009.11:g.137726806T>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000018727.24, RCV000124469.4, RCV000231448.1, RCV000325078.1,