rs1057518139

Orientation

minus

Stabilized

minus

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

Make rs1057518139(-;-)

Make rs1057518139(-;AAG)

Reference

GRCh38.p7 38.3/150

Chromosome

12

Position

47981776

Gene	COL2A1, LOC105369752

is a	snp
is	mentioned by
dbSNP	rs1057518139
dbSNP (classic)	rs1057518139
ClinGen	rs1057518139
ebi	rs1057518139
HLI	rs1057518139
Exac	rs1057518139
Gnomad	rs1057518139
Varsome	rs1057518139
LitVar	rs1057518139
Map	rs1057518139
PheGenI	rs1057518139
Biobank	rs1057518139
1000 genomes	rs1057518139
hgdp	rs1057518139
ensembl	rs1057518139
geneview	rs1057518139
scholar	rs1057518139
google	rs1057518139
pharmgkb	rs1057518139
gwascentral	rs1057518139
openSNP	rs1057518139
23andMe	rs1057518139
SNPshot	rs1057518139
SNPdbe	rs1057518139
MSV3d	rs1057518139
GWAS Ctlg	rs1057518139

Max Magnitude

0

ClinVar
Risk	rs1057518139(-;-)
Alt	rs1057518139(-;-)
Reference	Rs1057518139(AAG;AAG)
Significance	Probable-Pathogenic
Disease	not provided
Variation	info
Gene	COL2A1
CLNDBN	not provided
Reversed	1
HGVS	NC_000012.11:g.48375559_48375561delCTT
CLNSRC
CLNACC	RCV000414483.1,