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rs191346286

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs191346286(G;T)
Make rs191346286(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome8
Position24953704
GeneMIR6841, NEFL
is asnp
is mentioned by
dbSNPrs191346286
ebirs191346286
HLIrs191346286
Exacrs191346286
Varsomers191346286
Maprs191346286
PheGenIrs191346286
hapmaprs191346286
1000 genomesrs191346286
hgdprs191346286
ensemblrs191346286
gopubmedrs191346286
geneviewrs191346286
scholarrs191346286
googlers191346286
pharmgkbrs191346286
gwascentralrs191346286
openSNPrs191346286
23andMers191346286
23andMe allrs191346286
SNP Nexus

SNPshotrs191346286
SNPdbers191346286
MSV3drs191346286
GWAS Ctlgrs191346286
Max Magnitude0
ClinVar
Risk rs191346286(T;T)
Alt rs191346286(T;T)
Reference rs191346286(G;G)
Significance Pathogenic
Disease Charcot-Marie-Tooth disease type 2E
Variation info
Gene MIR6841 NEFL
CLNDBN Charcot-Marie-Tooth disease type 2E
Reversed 0
HGVS NC_000008.10:g.24811218G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000172912.2,