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rs1057518908

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057518908(A;A)
Make rs1057518908(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome12
Position47984112
GeneCOL2A1
is asnp
is mentioned by
dbSNPrs1057518908
dbSNP (old)rs1057518908
ClinGenrs1057518908
ebirs1057518908
HLIrs1057518908
Exacrs1057518908
Gnomadrs1057518908
Varsomers1057518908
Maprs1057518908
PheGenIrs1057518908
Biobankrs1057518908
1000 genomesrs1057518908
hgdprs1057518908
ensemblrs1057518908
gopubmedrs1057518908
geneviewrs1057518908
scholarrs1057518908
googlers1057518908
pharmgkbrs1057518908
gwascentralrs1057518908
openSNPrs1057518908
23andMers1057518908
23andMe allrs1057518908
SNPshotrs1057518908
SNPdbers1057518908
MSV3drs1057518908
GWAS Ctlgrs1057518908
Max Magnitude0
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,