rs1057517675

Orientation

minus

Stabilized

minus

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

Make rs1057517675(C;T)

Make rs1057517675(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

2

Position

3549068

Gene

RNASEH1

is a	snp
is	mentioned by
dbSNP	rs1057517675
dbSNP (classic)	rs1057517675
ClinGen	rs1057517675
ebi	rs1057517675
HLI	rs1057517675
Exac	rs1057517675
Gnomad	rs1057517675
Varsome	rs1057517675
LitVar	rs1057517675
Map	rs1057517675
PheGenI	rs1057517675
Biobank	rs1057517675
1000 genomes	rs1057517675
hgdp	rs1057517675
ensembl	rs1057517675
geneview	rs1057517675
scholar	rs1057517675
google	rs1057517675
pharmgkb	rs1057517675
gwascentral	rs1057517675
openSNP	rs1057517675
23andMe	rs1057517675
SNPshot	rs1057517675
SNPdbe	rs1057517675
MSV3d	rs1057517675
GWAS Ctlg	rs1057517675

Max Magnitude

0

ClinVar
Risk	rs1057517675(T;T)
Alt	rs1057517675(T;T)
Reference	Rs1057517675(C;C)
Significance	Pathogenic
Disease	Progressive external ophthalmoplegia with mitochondrial DNA deletions
Variation	info
Gene	RNASEH1
CLNDBN	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2
Reversed	1
HGVS	NC_000002.11:g.3596658G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000412557.1,