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rs1057517675

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057517675(C;T)
Make rs1057517675(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome2
Position3549068
GeneRNASEH1
is asnp
is mentioned by
dbSNPrs1057517675
dbSNP (old)rs1057517675
ClinGenrs1057517675
ebirs1057517675
HLIrs1057517675
Exacrs1057517675
Gnomadrs1057517675
Varsomers1057517675
Maprs1057517675
PheGenIrs1057517675
Biobankrs1057517675
1000 genomesrs1057517675
hgdprs1057517675
ensemblrs1057517675
gopubmedrs1057517675
geneviewrs1057517675
scholarrs1057517675
googlers1057517675
pharmgkbrs1057517675
gwascentralrs1057517675
openSNPrs1057517675
23andMers1057517675
23andMe allrs1057517675
SNPshotrs1057517675
SNPdbers1057517675
MSV3drs1057517675
GWAS Ctlgrs1057517675
Max Magnitude0
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,