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rs1057518743

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057518743(-;-)
Make rs1057518743(-;C)
ReferenceGRCh38.p7 38.3/150
Chromosome16
Position28845997
GeneMIR4721, SH2B1, TUFM
is asnp
is mentioned by
dbSNPrs1057518743
dbSNP (classic)rs1057518743
ClinGenrs1057518743
ebirs1057518743
HLIrs1057518743
Exacrs1057518743
Gnomadrs1057518743
Varsomers1057518743
LitVarrs1057518743
Maprs1057518743
PheGenIrs1057518743
Biobankrs1057518743
1000 genomesrs1057518743
hgdprs1057518743
ensemblrs1057518743
geneviewrs1057518743
scholarrs1057518743
googlers1057518743
pharmgkbrs1057518743
gwascentralrs1057518743
openSNPrs1057518743
23andMers1057518743
23andMe allrs1057518743
SNPshotrs1057518743
SNPdbers1057518743
MSV3drs1057518743
GWAS Ctlgrs1057518743
Max Magnitude0
ClinVar
Risk rs1057518743(-;-)
Alt rs1057518743(-;-)
Reference Rs1057518743(C;C)
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.28857318delG
CLNSRC OMIM Allelic Variant
CLNACC RCV000412638.1,