rs1057518743

Orientation

minus

Stabilized

minus

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

Make rs1057518743(-;-)

Make rs1057518743(-;C)

Reference

GRCh38.p7 38.3/150

Chromosome

16

Position

28845997

Gene	MIR4721, SH2B1, TUFM

is a	snp
is	mentioned by
dbSNP	rs1057518743
dbSNP (classic)	rs1057518743
ClinGen	rs1057518743
ebi	rs1057518743
HLI	rs1057518743
Exac	rs1057518743
Gnomad	rs1057518743
Varsome	rs1057518743
LitVar	rs1057518743
Map	rs1057518743
PheGenI	rs1057518743
Biobank	rs1057518743
1000 genomes	rs1057518743
hgdp	rs1057518743
ensembl	rs1057518743
geneview	rs1057518743
scholar	rs1057518743
google	rs1057518743
pharmgkb	rs1057518743
gwascentral	rs1057518743
openSNP	rs1057518743
23andMe	rs1057518743
SNPshot	rs1057518743
SNPdbe	rs1057518743
MSV3d	rs1057518743
GWAS Ctlg	rs1057518743

Max Magnitude

0

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,