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rs1057518742

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057518742(A;A)
Make rs1057518742(A;T)
ReferenceGRCh38.p7 38.3/150
Chromosome16
Position28845030
GeneMIR4721, SH2B1, TUFM
is asnp
is mentioned by
dbSNPrs1057518742
dbSNP (old)rs1057518742
ClinGenrs1057518742
ebirs1057518742
HLIrs1057518742
Exacrs1057518742
Gnomadrs1057518742
Varsomers1057518742
Maprs1057518742
PheGenIrs1057518742
Biobankrs1057518742
1000 genomesrs1057518742
hgdprs1057518742
ensemblrs1057518742
gopubmedrs1057518742
geneviewrs1057518742
scholarrs1057518742
googlers1057518742
pharmgkbrs1057518742
gwascentralrs1057518742
openSNPrs1057518742
23andMers1057518742
23andMe allrs1057518742
SNPshotrs1057518742
SNPdbers1057518742
MSV3drs1057518742
GWAS Ctlgrs1057518742
Max Magnitude0
ClinVar
Risk rs1057518742(A;A)
Alt rs1057518742(A;A)
Reference Rs1057518742(T;T)
Significance Pathogenic
Disease Combined oxidative phosphorylation deficiency 4
Variation info
Gene SH2B1 TUFM NPIPB8 MIR4721
CLNDBN Combined oxidative phosphorylation deficiency 4
Reversed 1
HGVS NC_000016.9:g.28856351A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000412576.1,