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rs104893652

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104893652(C;G)
Make rs104893652(G;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position222297158
GeneCCDC140, PAX3
is asnp
is mentioned by
dbSNPrs104893652
ebirs104893652
HLIrs104893652
Exacrs104893652
Varsomers104893652
Maprs104893652
PheGenIrs104893652
hapmaprs104893652
1000 genomesrs104893652
hgdprs104893652
ensemblrs104893652
gopubmedrs104893652
geneviewrs104893652
scholarrs104893652
googlers104893652
pharmgkbrs104893652
gwascentralrs104893652
openSNPrs104893652
23andMers104893652
23andMe allrs104893652
SNP Nexus

SNPshotrs104893652
SNPdbers104893652
MSV3drs104893652
GWAS Ctlgrs104893652
Max Magnitude0
OMIM606597
Desc
Variant0010
Relatedalso
ClinVar
Risk rs104893652(G;G)
Alt rs104893652(G;G)
Reference rs104893652(C;C)
Significance Pathogenic
Disease Craniofacial deafness hand syndrome
Variation info
Gene PAX3 CCDC140
CLNDBN Craniofacial deafness hand syndrome
Reversed 1
HGVS NC_000002.11:g.223161877G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000004434.2,