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rs1057518967

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057518967(A;A)
Make rs1057518967(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome7
Position94423102
GeneCOL1A2
is asnp
is mentioned by
dbSNPrs1057518967
dbSNP (old)rs1057518967
ClinGenrs1057518967
ebirs1057518967
HLIrs1057518967
Exacrs1057518967
Gnomadrs1057518967
Varsomers1057518967
Maprs1057518967
PheGenIrs1057518967
Biobankrs1057518967
1000 genomesrs1057518967
hgdprs1057518967
ensemblrs1057518967
gopubmedrs1057518967
geneviewrs1057518967
scholarrs1057518967
googlers1057518967
pharmgkbrs1057518967
gwascentralrs1057518967
openSNPrs1057518967
23andMers1057518967
23andMe allrs1057518967
SNPshotrs1057518967
SNPdbers1057518967
MSV3drs1057518967
GWAS Ctlgrs1057518967
Max Magnitude0
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,