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

rs587777718

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587777718(C;T)
Make rs587777718(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome12
Position57512849
GeneMARS, MIR6758
is asnp
is mentioned by
dbSNPrs587777718
dbSNP (classic)rs587777718
ClinGenrs587777718
ebirs587777718
HLIrs587777718
Exacrs587777718
Gnomadrs587777718
Varsomers587777718
LitVarrs587777718
Maprs587777718
PheGenIrs587777718
Biobankrs587777718
1000 genomesrs587777718
hgdprs587777718
ensemblrs587777718
geneviewrs587777718
scholarrs587777718
googlers587777718
pharmgkbrs587777718
gwascentralrs587777718
openSNPrs587777718
23andMers587777718
SNPshotrs587777718
SNPdbers587777718
MSV3drs587777718
GWAS Ctlgrs587777718
Max Magnitude0
ClinVar
Risk rs587777718(T;T)
Alt rs587777718(T;T)
Reference Rs587777718(C;C)
Significance Pathogenic
Disease Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease not specified
Variation info
Gene MARS MIR6758
CLNDBN Charcot-Marie-Tooth disease, axonal, type 2u Charcot-Marie-Tooth disease not specified
Reversed 0
HGVS NC_000012.11:g.57906632C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000144083.5, RCV000192267.1, RCV000478608.1,