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

rs876657411

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AG;AG) 0 common in clinvar
Make rs876657411(-;-)
Make rs876657411(-;GA)
Make rs876657411(GA;GA)
ReferenceGRCh38.p2 38.2/147
Chromosome22
Position29490650
GeneNEFH
is asnp
is mentioned by
dbSNPrs876657411
dbSNP (classic)rs876657411
ClinGenrs876657411
ebirs876657411
HLIrs876657411
Exacrs876657411
Gnomadrs876657411
Varsomers876657411
LitVarrs876657411
Maprs876657411
PheGenIrs876657411
Biobankrs876657411
1000 genomesrs876657411
hgdprs876657411
ensemblrs876657411
geneviewrs876657411
scholarrs876657411
googlers876657411
pharmgkbrs876657411
gwascentralrs876657411
openSNPrs876657411
23andMers876657411
SNPshotrs876657411
SNPdbers876657411
MSV3drs876657411
GWAS Ctlgrs876657411
Max Magnitude0
ClinVar
Risk rs876657411(-;-)
Alt rs876657411(-;-)
Reference Rs876657411(AG;AG)
Significance Pathogenic
Disease Charcot-Marie-Tooth disease
Variation info
Gene NEFH
CLNDBN Charcot-Marie-Tooth disease, axonal, type 2CC
Reversed 0
HGVS NC_000022.10:g.29886639_29886640delGA
CLNSRC OMIM Allelic Variant
CLNACC RCV000210935.2,