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rs748035948

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs748035948(G;T)
Make rs748035948(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome21
Position46125265
GeneCOL6A2
is asnp
is mentioned by
dbSNPrs748035948
ebirs748035948
HLIrs748035948
Exacrs748035948
Varsomers748035948
Maprs748035948
PheGenIrs748035948
hapmaprs748035948
1000 genomesrs748035948
hgdprs748035948
ensemblrs748035948
gopubmedrs748035948
geneviewrs748035948
scholarrs748035948
googlers748035948
pharmgkbrs748035948
gwascentralrs748035948
openSNPrs748035948
23andMers748035948
23andMe allrs748035948
SNP Nexus

SNPshotrs748035948
SNPdbers748035948
MSV3drs748035948
GWAS Ctlgrs748035948
Max Magnitude0
ClinVar
Risk rs748035948(T;T)
Alt rs748035948(T;T)
Reference rs748035948(G;G)
Significance Pathogenic
Disease Ullrich congenital muscular dystrophy
Variation info
Gene COL6A2
CLNDBN Ullrich congenital muscular dystrophy
Reversed 0
HGVS NC_000021.8:g.47545179G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000030600.24,