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rs146092501

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs146092501(C;T)
Make rs146092501(T;T)
ReferenceGRCh38 38.1/142
Chromosome2
Position237371861
GeneCOL6A3
is asnp
is mentioned by
dbSNPrs146092501
ebirs146092501
HLIrs146092501
Exacrs146092501
Varsomers146092501
Maprs146092501
PheGenIrs146092501
hapmaprs146092501
1000 genomesrs146092501
hgdprs146092501
ensemblrs146092501
gopubmedrs146092501
geneviewrs146092501
scholarrs146092501
googlers146092501
pharmgkbrs146092501
gwascentralrs146092501
openSNPrs146092501
23andMers146092501
23andMe allrs146092501
SNP Nexus

SNPshotrs146092501
SNPdbers146092501
MSV3drs146092501
GWAS Ctlgrs146092501
Max Magnitude0
ClinVar
Risk rs146092501(T;T)
Alt rs146092501(T;T)
Reference rs146092501(C;C)
Significance Other
Disease Ullrich congenital muscular dystrophy not specified not provided
Variation info
Gene COL6A3
CLNDBN Ullrich congenital muscular dystrophy not specified not provided
Reversed 0
HGVS NC_000002.11:g.238280504C>T
CLNSRC ClinVar
CLNACC RCV000116798.1, RCV000180594.2, RCV000224823.1,