rs1057518908

Orientation

minus

Stabilized

minus

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

Make rs1057518908(A;A)

Make rs1057518908(A;G)

Reference

GRCh38.p7 38.3/150

Chromosome

12

Position

47984112

Gene

COL2A1

is a	snp
is	mentioned by
dbSNP	rs1057518908
dbSNP (classic)	rs1057518908
ClinGen	rs1057518908
ebi	rs1057518908
HLI	rs1057518908
Exac	rs1057518908
Gnomad	rs1057518908
Varsome	rs1057518908
LitVar	rs1057518908
Map	rs1057518908
PheGenI	rs1057518908
Biobank	rs1057518908
1000 genomes	rs1057518908
hgdp	rs1057518908
ensembl	rs1057518908
geneview	rs1057518908
scholar	rs1057518908
google	rs1057518908
pharmgkb	rs1057518908
gwascentral	rs1057518908
openSNP	rs1057518908
23andMe	rs1057518908
SNPshot	rs1057518908
SNPdbe	rs1057518908
MSV3d	rs1057518908
GWAS Ctlg	rs1057518908

Max Magnitude

0

ClinVar
Risk	rs1057518908(A;A)
Alt	rs1057518908(A;A)
Reference	Rs1057518908(G;G)
Significance	Probable-Pathogenic
Disease	Hearing impairment Hip dysplasia Hypoplastic acetabulae Multiple epiphyseal dysplasia Scoliosis Short stature
Variation	info
Gene	COL2A1
CLNDBN	Hearing impairment Hip dysplasia Hypoplastic acetabulae Multiple epiphyseal dysplasia Scoliosis Short stature
Reversed	1
HGVS	NC_000012.11:g.48377895C>T
CLNSRC
CLNACC	RCV000415092.1,