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rs1057518943

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057518943(A;A)
Make rs1057518943(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome11
Position68906163
GeneIGHMBP2
is asnp
is mentioned by
dbSNPrs1057518943
dbSNP (classic)rs1057518943
ClinGenrs1057518943
ebirs1057518943
HLIrs1057518943
Exacrs1057518943
Gnomadrs1057518943
Varsomers1057518943
LitVarrs1057518943
Maprs1057518943
PheGenIrs1057518943
Biobankrs1057518943
1000 genomesrs1057518943
hgdprs1057518943
ensemblrs1057518943
geneviewrs1057518943
scholarrs1057518943
googlers1057518943
pharmgkbrs1057518943
gwascentralrs1057518943
openSNPrs1057518943
23andMers1057518943
23andMe allrs1057518943
SNPshotrs1057518943
SNPdbers1057518943
MSV3drs1057518943
GWAS Ctlgrs1057518943
Max Magnitude0
ClinVar
Risk rs1057518943(A;A)
Alt rs1057518943(A;A)
Reference Rs1057518943(G;G)
Significance Probable-Pathogenic
Disease Difficulty walking Hammertoe Inability to walk Lower limb muscle weakness Progressive muscle weakness
Variation info
Gene IGHMBP2
CLNDBN Difficulty walking Hammertoe Inability to walk Lower limb muscle weakness Progressive muscle weakness
Reversed 0
HGVS NC_000011.9:g.68673631G>A
CLNSRC
CLNACC RCV000415346.1,