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rs1057518656

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057518656(C;G)
Make rs1057518656(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome22
Position37983469
GenePOLR2F, SOX10
is asnp
is mentioned by
dbSNPrs1057518656
dbSNP (old)rs1057518656
ClinGenrs1057518656
ebirs1057518656
HLIrs1057518656
Exacrs1057518656
Gnomadrs1057518656
Varsomers1057518656
Maprs1057518656
PheGenIrs1057518656
Biobankrs1057518656
1000 genomesrs1057518656
hgdprs1057518656
ensemblrs1057518656
gopubmedrs1057518656
geneviewrs1057518656
scholarrs1057518656
googlers1057518656
pharmgkbrs1057518656
gwascentralrs1057518656
openSNPrs1057518656
23andMers1057518656
23andMe allrs1057518656
SNPshotrs1057518656
SNPdbers1057518656
MSV3drs1057518656
GWAS Ctlgrs1057518656
Max Magnitude0
ClinVar
Risk rs1057518656(G;G)
Alt rs1057518656(G;G)
Reference Rs1057518656(C;C)
Significance Probable-Pathogenic
Disease Waardenburg syndrome type 2E
Variation info
Gene SOX10 POLR2F
CLNDBN Waardenburg syndrome type 2E
Reversed 1
HGVS NC_000022.10:g.38379476G>C
CLNSRC
CLNACC RCV000415328.1,