Have questions? Visit https://www.reddit.com/r/SNPedia

rs398122828

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs398122828(A;A)
Make rs398122828(A;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position102915630
GeneCOL11A1
is asnp
is mentioned by
dbSNPrs398122828
ebirs398122828
HLIrs398122828
Exacrs398122828
Varsomers398122828
Maprs398122828
PheGenIrs398122828
hapmaprs398122828
1000 genomesrs398122828
hgdprs398122828
ensemblrs398122828
gopubmedrs398122828
geneviewrs398122828
scholarrs398122828
googlers398122828
pharmgkbrs398122828
gwascentralrs398122828
openSNPrs398122828
23andMers398122828
23andMe allrs398122828
SNP Nexus

SNPshotrs398122828
SNPdbers398122828
MSV3drs398122828
GWAS Ctlgrs398122828
Max Magnitude0
ClinVar
Risk rs398122828(A;A)
Alt rs398122828(A;A)
Reference rs398122828(G;G)
Significance Pathogenic
Disease Marshall syndrome
Variation info
Gene COL11A1
CLNDBN Marshall syndrome
Reversed 1
HGVS NC_000001.10:g.103381186C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000032995.30,