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rs398122821

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(GTCATC;GTCATC) 0 common in clinvar
(TCGTCA;TCGTCA) 0 common in clinvar
Make rs398122821(-;-)
Make rs398122821(-;GTCATC)
ReferenceGRCh38 38.1/141
Chromosome21
Position46125503
GeneCOL6A2
is asnp
is mentioned by
dbSNPrs398122821
ebirs398122821
HLIrs398122821
Exacrs398122821
Varsomers398122821
Maprs398122821
PheGenIrs398122821
hapmaprs398122821
1000 genomesrs398122821
hgdprs398122821
ensemblrs398122821
gopubmedrs398122821
geneviewrs398122821
scholarrs398122821
googlers398122821
pharmgkbrs398122821
gwascentralrs398122821
openSNPrs398122821
23andMers398122821
23andMe allrs398122821
SNP Nexus

SNPshotrs398122821
SNPdbers398122821
MSV3drs398122821
GWAS Ctlgrs398122821
Max Magnitude0
ClinVar
Risk rs398122821(;)
Alt rs398122821(;)
Reference rs398122821(TCGTCA;TCGTCA)
Significance Pathogenic
Disease Ullrich congenital muscular dystrophy
Variation info
Gene COL6A2
CLNDBN Ullrich congenital muscular dystrophy
Reversed 0
HGVS NC_000021.8:g.47545417_47545422delGTCATC
CLNSRC OMIM Allelic Variant
CLNACC RCV000030599.29,