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rs724159994

From SNPedia

Orientationplus
Geno Mag Summary
(AG;AG) 0 common in clinvar
Make rs724159994(-;-)
Make rs724159994(-;AG)
ReferenceGRCh38.p2 38.2/144
Chromosome11
Position68939660
GeneIGHMBP2
is asnp
is mentioned by
dbSNPrs724159994
ebirs724159994
HLIrs724159994
Exacrs724159994
Varsomers724159994
Maprs724159994
PheGenIrs724159994
hapmaprs724159994
1000 genomesrs724159994
hgdprs724159994
ensemblrs724159994
gopubmedrs724159994
geneviewrs724159994
scholarrs724159994
googlers724159994
pharmgkbrs724159994
gwascentralrs724159994
openSNPrs724159994
23andMers724159994
23andMe allrs724159994
SNP Nexus

SNPshotrs724159994
SNPdbers724159994
MSV3drs724159994
GWAS Ctlgrs724159994
Max Magnitude0
ClinVar
Risk rs724159994(;)
Alt rs724159994(;)
Reference rs724159994(AG;AG)
Significance Pathogenic
Disease Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease not provided
Variation info
Gene IGHMBP2
CLNDBN Charcot-Marie-Tooth disease, axonal, type 2S Charcot-Marie-Tooth disease not provided
Reversed 0
HGVS NC_000011.9:g.68707128_68707129delAG
CLNSRC OMIM Allelic Variant
CLNACC RCV000149575.5, RCV000192260.1, RCV000221709.1,