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rs372000714

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs372000714(A;A)
Make rs372000714(A;T)
ReferenceGRCh38.p2 38.2/144
Chromosome11
Position68906120
GeneIGHMBP2
is asnp
is mentioned by
dbSNPrs372000714
ebirs372000714
HLIrs372000714
Exacrs372000714
Varsomers372000714
Maprs372000714
PheGenIrs372000714
hapmaprs372000714
1000 genomesrs372000714
hgdprs372000714
ensemblrs372000714
gopubmedrs372000714
geneviewrs372000714
scholarrs372000714
googlers372000714
pharmgkbrs372000714
gwascentralrs372000714
openSNPrs372000714
23andMers372000714
23andMe allrs372000714
SNP Nexus

SNPshotrs372000714
SNPdbers372000714
MSV3drs372000714
GWAS Ctlgrs372000714
Max Magnitude0
ClinVar
Risk rs372000714(A;A)
Alt rs372000714(A;A)
Reference rs372000714(T;T)
Significance Pathogenic
Disease Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease
Variation info
Gene IGHMBP2
CLNDBN Charcot-Marie-Tooth disease, axonal, type 2S Charcot-Marie-Tooth disease
Reversed 0
HGVS NC_000011.9:g.68673588T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000149574.6, RCV000192258.1,