rs1060502250

Orientation

plus

Stabilized

plus

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

Make rs1060502250(-;-)

Make rs1060502250(-;CCT)

Make rs1060502250(CCT;CCT)

Reference

GRCh38.p7 38.3/150

Chromosome

9

Position

134834975

Gene	COL5A1, LOC101448202

is a	snp
is	mentioned by
dbSNP	rs1060502250
dbSNP (classic)	rs1060502250
ClinGen	rs1060502250
ebi	rs1060502250
HLI	rs1060502250
Exac	rs1060502250
Gnomad	rs1060502250
Varsome	rs1060502250
LitVar	rs1060502250
Map	rs1060502250
PheGenI	rs1060502250
Biobank	rs1060502250
1000 genomes	rs1060502250
hgdp	rs1060502250
ensembl	rs1060502250
geneview	rs1060502250
scholar	rs1060502250
google	rs1060502250
pharmgkb	rs1060502250
gwascentral	rs1060502250
openSNP	rs1060502250
23andMe	rs1060502250
SNPshot	rs1060502250
SNPdbe	rs1060502250
MSV3d	rs1060502250
GWAS Ctlg	rs1060502250

Max Magnitude

0

ClinVar
Risk	rs1060502250(-;-)
Alt	rs1060502250(-;-)
Reference	Rs1060502250(CTC;CTC)
Significance	Probable-Pathogenic
Disease	Ehlers-Danlos syndrome
Variation	info
Gene	COL5A1
CLNDBN	Ehlers-Danlos syndrome, classic type
Reversed	0
HGVS	NC_000009.11:g.137726821_137726823delCCT
CLNSRC
CLNACC	RCV000457411.1,