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rs1047747

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1047747(A;A)
Make rs1047747(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome16
Position5084828
GeneALG1, EEF2KMT
is asnp
is mentioned by
dbSNPrs1047747
dbSNP (old)rs1047747
ClinGenrs1047747
ebirs1047747
HLIrs1047747
Exacrs1047747
Gnomadrs1047747
Varsomers1047747
LitVarrs1047747
Maprs1047747
PheGenIrs1047747
Biobankrs1047747
1000 genomesrs1047747
hgdprs1047747
ensemblrs1047747
gopubmedrs1047747
geneviewrs1047747
scholarrs1047747
googlers1047747
pharmgkbrs1047747
gwascentralrs1047747
openSNPrs1047747
23andMers1047747
23andMe allrs1047747
SNPshotrs1047747
SNPdbers1047747
MSV3drs1047747
GWAS Ctlgrs1047747
Max Magnitude0
ClinVar
Risk rs1047747(A;A)
Alt rs1047747(A;A)
Reference Rs1047747(G;G)
Significance Probable-Pathogenic
Disease not provided
Variation info
Gene ALG1 FAM86A EEF2KMT
CLNDBN not provided
Reversed 1
HGVS NC_000016.9:g.5134829C>T
CLNSRC
CLNACC RCV000430761.1,