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rs150331292

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs150331292(C;T)
Make rs150331292(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome4
Position183664009
GeneTRAPPC11
is asnp
is mentioned by
dbSNPrs150331292
dbSNP (old)rs150331292
ClinGenrs150331292
ebirs150331292
HLIrs150331292
Exacrs150331292
Gnomadrs150331292
Varsomers150331292
LitVarrs150331292
Maprs150331292
PheGenIrs150331292
Biobankrs150331292
1000 genomesrs150331292
hgdprs150331292
ensemblrs150331292
gopubmedrs150331292
geneviewrs150331292
scholarrs150331292
googlers150331292
pharmgkbrs150331292
gwascentralrs150331292
openSNPrs150331292
23andMers150331292
23andMe allrs150331292
SNPshotrs150331292
SNPdbers150331292
MSV3drs150331292
GWAS Ctlgrs150331292
Max Magnitude0
ClinVar
Risk rs150331292(G;G) rs150331292(T;T)
Alt rs150331292(G;G) rs150331292(T;T)
Reference Rs150331292(C;C)
Significance Pathogenic
Disease Limb-girdle muscular dystrophy
Variation info
Gene TRAPPC11
CLNDBN Limb-girdle muscular dystrophy, type 2S
Reversed 0
HGVS NC_000004.11:g.184585162C>T
CLNSRC
CLNACC RCV000416446.1,