rs1057516716

Orientation

minus

Stabilized

minus

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

Make rs1057516716(-;C)

Make rs1057516716(C;C)

Reference

GRCh38.p7 38.3/150

Chromosome

11

Position

2171774

Gene	MIR4686, TH

is a	snp
is	mentioned by
dbSNP	rs1057516716
dbSNP (classic)	rs1057516716
ClinGen	rs1057516716
ebi	rs1057516716
HLI	rs1057516716
Exac	rs1057516716
Gnomad	rs1057516716
Varsome	rs1057516716
LitVar	rs1057516716
Map	rs1057516716
PheGenI	rs1057516716
Biobank	rs1057516716
1000 genomes	rs1057516716
hgdp	rs1057516716
ensembl	rs1057516716
geneview	rs1057516716
scholar	rs1057516716
google	rs1057516716
pharmgkb	rs1057516716
gwascentral	rs1057516716
openSNP	rs1057516716
23andMe	rs1057516716
SNPshot	rs1057516716
SNPdbe	rs1057516716
MSV3d	rs1057516716
GWAS Ctlg	rs1057516716

Max Magnitude

0

ClinVar
Risk	rs1057516716(C;C)
Alt	rs1057516716(C;C)
Reference	Rs1057516716(-;-)
Significance	Probable-Pathogenic
Disease	Segawa syndrome
Variation	info
Gene	TH MIR4686
CLNDBN	Segawa syndrome, autosomal recessive
Reversed	1
HGVS	NC_000011.9:g.2193005dupG
CLNSRC
CLNACC	RCV000410048.1,