rs1057517277

Orientation

minus

Stabilized

minus

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

Make rs1057517277(-;-)

Make rs1057517277(-;GCACAGG)

Reference

GRCh38.p7 38.3/150

Chromosome

5

Position

179128118

Gene

ADAMTS2

is a	snp
is	mentioned by
dbSNP	rs1057517277
dbSNP (classic)	rs1057517277
ClinGen	rs1057517277
ebi	rs1057517277
HLI	rs1057517277
Exac	rs1057517277
Gnomad	rs1057517277
Varsome	rs1057517277
LitVar	rs1057517277
Map	rs1057517277
PheGenI	rs1057517277
Biobank	rs1057517277
1000 genomes	rs1057517277
hgdp	rs1057517277
ensembl	rs1057517277
geneview	rs1057517277
scholar	rs1057517277
google	rs1057517277
pharmgkb	rs1057517277
gwascentral	rs1057517277
openSNP	rs1057517277
23andMe	rs1057517277
SNPshot	rs1057517277
SNPdbe	rs1057517277
MSV3d	rs1057517277
GWAS Ctlg	rs1057517277

Max Magnitude

0

ClinVar
Risk	rs1057517277(-;-)
Alt	rs1057517277(-;-)
Reference	Rs1057517277(GCACAGG;GCACAGG)
Significance	Probable-Pathogenic
Disease	Ehlers-Danlos syndrome
Variation	info
Gene	ADAMTS2
CLNDBN	Ehlers-Danlos syndrome, type vii, autosomal recessive
Reversed	1
HGVS	NC_000005.9:g.178555119_178555125delCCTGTGC
CLNSRC
CLNACC	RCV000411325.1,