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rs281797260

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs281797260(C;C)
Make rs281797260(C;G)
ReferenceGRCh38 38.1/141
Chromosome22
Position37977943
GenePOLR2F, SOX10
is asnp
is mentioned by
dbSNPrs281797260
dbSNP (classic)rs281797260
ClinGenrs281797260
ebirs281797260
HLIrs281797260
Exacrs281797260
Gnomadrs281797260
Varsomers281797260
LitVarrs281797260
Maprs281797260
PheGenIrs281797260
Biobankrs281797260
1000 genomesrs281797260
hgdprs281797260
ensemblrs281797260
geneviewrs281797260
scholarrs281797260
googlers281797260
pharmgkbrs281797260
gwascentralrs281797260
openSNPrs281797260
23andMers281797260
SNPshotrs281797260
SNPdbers281797260
MSV3drs281797260
GWAS Ctlgrs281797260
Max Magnitude0
ClinVar
Risk rs281797260(C;C)
Alt rs281797260(C;C)
Reference Rs281797260(G;G)
Significance Pathogenic
Disease Waardenburg syndrome type 4C
Variation info
Gene SOX10 POLR2F
CLNDBN Waardenburg syndrome type 4C
Reversed 0
HGVS NC_000022.10:g.38373950G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000007825.3,