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rs876657412

From SNPedia

Orientationplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs876657412(-;-)
Make rs876657412(-;AGCC)
Make rs876657412(AGCC;AGCC)
ReferenceGRCh38.p2 38.2/147
Chromosome22
Position29490660
GeneNEFH
is asnp
is mentioned by
dbSNPrs876657412
ebirs876657412
HLIrs876657412
Exacrs876657412
Varsomers876657412
Maprs876657412
PheGenIrs876657412
hapmaprs876657412
1000 genomesrs876657412
hgdprs876657412
ensemblrs876657412
gopubmedrs876657412
geneviewrs876657412
scholarrs876657412
googlers876657412
pharmgkbrs876657412
gwascentralrs876657412
openSNPrs876657412
23andMers876657412
23andMe allrs876657412
SNP Nexus

SNPshotrs876657412
SNPdbers876657412
MSV3drs876657412
GWAS Ctlgrs876657412
Max Magnitude0
ClinVar
Risk rs876657412(AGCC;AGCC)
Alt rs876657412(AGCC;AGCC)
Reference rs876657412(;)
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.29886646_29886649dupAGCC
CLNSRC OMIM Allelic Variant
CLNACC RCV000210933.2,