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rs35908728

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0
(G;G) 0 common in complete genomics
Make rs35908728(A;A)
Make rs35908728(A;G)
ReferenceGRCh38 38.1/142
Chromosome20
Position62819953
GeneCOL9A3
is asnp
is mentioned by
dbSNPrs35908728
dbSNP (old)rs35908728
ClinGenrs35908728
ebirs35908728
HLIrs35908728
Exacrs35908728
Gnomadrs35908728
Varsomers35908728
Maprs35908728
PheGenIrs35908728
Biobankrs35908728
1000 genomesrs35908728
hgdprs35908728
ensemblrs35908728
gopubmedrs35908728
geneviewrs35908728
scholarrs35908728
googlers35908728
pharmgkbrs35908728
gwascentralrs35908728
openSNPrs35908728
23andMers35908728
23andMe allrs35908728
SNP Nexus

SNPshotrs35908728
SNPdbers35908728
MSV3drs35908728
GWAS Ctlgrs35908728
GMAF0.03444
Max Magnitude0
This SNP currently serves only as a marker for a SNP known as Arg103Trp that lacks an rs# in dbSNP, but is 27 nucleotides away from rs35908728 in the COL9A3 gene.

For details, see the entry for lumbar disc disease.


GET Evidence
COL9A3-P94S
aa_change Pro94Ser
aa_change_short P94S
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.0538304
summary



ClinVar
Risk rs35908728(A;A)
Alt rs35908728(A;A)
Reference Rs35908728(G;G)
Significance Probable-non-pathogenic
Disease not specified Multiple Epiphyseal Dysplasia
Variation info
Gene COL9A3
CLNDBN not specified Multiple Epiphyseal Dysplasia, Dominant
Reversed 1
HGVS NC_000020.10:g.61451305C>T
CLNSRC
CLNACC RCV000249161.1, RCV000356406.1,