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

rs116608946

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs116608946(A;A)
Make rs116608946(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position237350158
GeneCOL6A3
is asnp
is mentioned by
dbSNPrs116608946
ebirs116608946
HLIrs116608946
Exacrs116608946
Varsomers116608946
Maprs116608946
PheGenIrs116608946
hapmaprs116608946
1000 genomesrs116608946
hgdprs116608946
ensemblrs116608946
gopubmedrs116608946
geneviewrs116608946
scholarrs116608946
googlers116608946
pharmgkbrs116608946
gwascentralrs116608946
openSNPrs116608946
23andMers116608946
23andMe allrs116608946
SNP Nexus

SNPshotrs116608946
SNPdbers116608946
MSV3drs116608946
GWAS Ctlgrs116608946
Max Magnitude0
ClinVar
Risk rs116608946(A;A)
Alt rs116608946(A;A)
Reference rs116608946(G;G)
Significance Probable-Pathogenic
Disease Congenital muscular dystrophy
Variation info
Gene COL6A3
CLNDBN Congenital muscular dystrophy
Reversed 0
HGVS NC_000002.11:g.238258801G>A
CLNSRC
CLNACC RCV000149954.1,