rs1057518742

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(T;T)	0	common in clinvar

Make rs1057518742(A;A)

Make rs1057518742(A;T)

Reference

GRCh38.p7 38.3/150

Chromosome

16

Position

28845030

Gene	MIR4721, SH2B1, TUFM

is a	snp
is	mentioned by
dbSNP	rs1057518742
dbSNP (classic)	rs1057518742
ClinGen	rs1057518742
ebi	rs1057518742
HLI	rs1057518742
Exac	rs1057518742
Gnomad	rs1057518742
Varsome	rs1057518742
LitVar	rs1057518742
Map	rs1057518742
PheGenI	rs1057518742
Biobank	rs1057518742
1000 genomes	rs1057518742
hgdp	rs1057518742
ensembl	rs1057518742
geneview	rs1057518742
scholar	rs1057518742
google	rs1057518742
pharmgkb	rs1057518742
gwascentral	rs1057518742
openSNP	rs1057518742
23andMe	rs1057518742
SNPshot	rs1057518742
SNPdbe	rs1057518742
MSV3d	rs1057518742
GWAS Ctlg	rs1057518742

Max Magnitude

0

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,