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rs724159960

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs724159960(A;A)
Make rs724159960(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome11
Position68934508
GeneIGHMBP2
is asnp
is mentioned by
dbSNPrs724159960
dbSNP (classic)rs724159960
ClinGenrs724159960
ebirs724159960
HLIrs724159960
Exacrs724159960
Gnomadrs724159960
Varsomers724159960
LitVarrs724159960
Maprs724159960
PheGenIrs724159960
Biobankrs724159960
1000 genomesrs724159960
hgdprs724159960
ensemblrs724159960
geneviewrs724159960
scholarrs724159960
googlers724159960
pharmgkbrs724159960
gwascentralrs724159960
openSNPrs724159960
23andMers724159960
SNPshotrs724159960
SNPdbers724159960
MSV3drs724159960
GWAS Ctlgrs724159960
Max Magnitude0
ClinVar
Risk rs724159960(A;A)
Alt rs724159960(A;A)
Reference Rs724159960(G;G)
Significance Pathogenic
Disease Charcot-Marie-Tooth disease not provided
Variation info
Gene IGHMBP2
CLNDBN Charcot-Marie-Tooth disease, axonal, type 2S not provided
Reversed 0
HGVS NC_000011.9:g.68701976G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000149578.5, RCV000236327.1,