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rs483353057

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(CCCGT;CCCGT) 0 common in clinvar
Make rs483353057(-;-)
Make rs483353057(-;CCCGT)
ReferenceGRCh38 38.1/142
Chromosome22
Position37983510
GeneSOX10
is asnp
is mentioned by
dbSNPrs483353057
ebirs483353057
HLIrs483353057
Exacrs483353057
Varsomers483353057
Maprs483353057
PheGenIrs483353057
hapmaprs483353057
1000 genomesrs483353057
hgdprs483353057
ensemblrs483353057
gopubmedrs483353057
geneviewrs483353057
scholarrs483353057
googlers483353057
pharmgkbrs483353057
gwascentralrs483353057
openSNPrs483353057
23andMers483353057
23andMe allrs483353057
SNP Nexus

SNPshotrs483353057
SNPdbers483353057
MSV3drs483353057
GWAS Ctlgrs483353057
Max Magnitude0
ClinVar
Risk rs483353057(;)
Alt rs483353057(;)
Reference rs483353057(CCCGT;CCCGT)
Significance Probable-Pathogenic
Disease Waardenburg syndrome type 4C
Variation info
Gene SOX10 POLR2F
CLNDBN Waardenburg syndrome type 4C
Reversed 1
HGVS NC_000022.10:g.38379517_38379521delACGGG
CLNSRC ClinVar
CLNACC RCV000119814.1,