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rs672601329

From SNPedia

Orientationminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs672601329(-;-)
Make rs672601329(-;T)
Make rs672601329(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome6
Position70281387
GeneCOL9A1
is asnp
is mentioned by
dbSNPrs672601329
ebirs672601329
HLIrs672601329
Exacrs672601329
Varsomers672601329
Maprs672601329
PheGenIrs672601329
hapmaprs672601329
1000 genomesrs672601329
hgdprs672601329
ensemblrs672601329
gopubmedrs672601329
geneviewrs672601329
scholarrs672601329
googlers672601329
pharmgkbrs672601329
gwascentralrs672601329
openSNPrs672601329
23andMers672601329
23andMe allrs672601329
SNP Nexus

SNPshotrs672601329
SNPdbers672601329
MSV3drs672601329
GWAS Ctlgrs672601329
Max Magnitude0
ClinVar
Risk rs672601329(T;T)
Alt rs672601329(T;T)
Reference rs672601329(;)
Significance Pathogenic
Disease Multiple epiphyseal dysplasia 6
Variation info
Gene COL9A1
CLNDBN Multiple epiphyseal dysplasia 6
Reversed 1
HGVS NC_000006.11:g.70991091dupA
CLNSRC OMIM Allelic Variant
CLNACC RCV000018734.28,