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rs200089714

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs200089714(C;T)
Make rs200089714(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome11
Position68906109
GeneIGHMBP2
is asnp
is mentioned by
dbSNPrs200089714
ebirs200089714
HLIrs200089714
Exacrs200089714
Varsomers200089714
Maprs200089714
PheGenIrs200089714
hapmaprs200089714
1000 genomesrs200089714
hgdprs200089714
ensemblrs200089714
gopubmedrs200089714
geneviewrs200089714
scholarrs200089714
googlers200089714
pharmgkbrs200089714
gwascentralrs200089714
openSNPrs200089714
23andMers200089714
23andMe allrs200089714
SNP Nexus

SNPshotrs200089714
SNPdbers200089714
MSV3drs200089714
GWAS Ctlgrs200089714
Max Magnitude0
ClinVar
Risk rs200089714(T;T)
Alt rs200089714(T;T)
Reference rs200089714(C;C)
Significance Pathogenic
Disease Distal hereditary motor neuronopathy
Variation info
Gene IGHMBP2
CLNDBN Distal hereditary motor neuronopathy
Reversed 0
HGVS NC_000011.9:g.68673577C>T
CLNSRC
CLNACC RCV000221711.1,