rs1057518967

Orientation

plus

Stabilized

plus

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

Make rs1057518967(A;A)

Make rs1057518967(A;G)

Reference

GRCh38.p7 38.3/150

Chromosome

7

Position

94423102

Gene

COL1A2

is a	snp
is	mentioned by
dbSNP	rs1057518967
dbSNP (classic)	rs1057518967
ClinGen	rs1057518967
ebi	rs1057518967
HLI	rs1057518967
Exac	rs1057518967
Gnomad	rs1057518967
Varsome	rs1057518967
LitVar	rs1057518967
Map	rs1057518967
PheGenI	rs1057518967
Biobank	rs1057518967
1000 genomes	rs1057518967
hgdp	rs1057518967
ensembl	rs1057518967
geneview	rs1057518967
scholar	rs1057518967
google	rs1057518967
pharmgkb	rs1057518967
gwascentral	rs1057518967
openSNP	rs1057518967
23andMe	rs1057518967
SNPshot	rs1057518967
SNPdbe	rs1057518967
MSV3d	rs1057518967
GWAS Ctlg	rs1057518967

Max Magnitude

0

ClinVar
Risk	rs1057518967(A;A)
Alt	rs1057518967(A;A)
Reference	Rs1057518967(G;G)
Significance	Pathogenic
Disease	Multiple prenatal fractures Skeletal dysplasia
Variation	info
Gene	COL1A2
CLNDBN	Multiple prenatal fractures Skeletal dysplasia
Reversed	0
HGVS	NC_000007.13:g.94052414G>A
CLNSRC
CLNACC	RCV000415158.1,