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rs540296842

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs540296842(G;T)
Make rs540296842(T;T)
ReferenceGRCh38 38.1/142
Chromosome20
Position21706648
GenePAX1
is asnp
is mentioned by
dbSNPrs540296842
ebirs540296842
HLIrs540296842
Exacrs540296842
Varsomers540296842
Maprs540296842
PheGenIrs540296842
hapmaprs540296842
1000 genomesrs540296842
hgdprs540296842
ensemblrs540296842
gopubmedrs540296842
geneviewrs540296842
scholarrs540296842
googlers540296842
pharmgkbrs540296842
gwascentralrs540296842
openSNPrs540296842
23andMers540296842
23andMe allrs540296842
SNP Nexus

SNPshotrs540296842
SNPdbers540296842
MSV3drs540296842
GWAS Ctlgrs540296842
Max Magnitude0
ClinVar
Risk rs540296842(C,T;C,T)
Alt rs540296842(C,T;C,T)
Reference rs540296842(G;G)
Significance Pathogenic
Disease Otofaciocervical syndrome 2
Variation info
Gene PAX1
CLNDBN Otofaciocervical syndrome 2
Reversed 0
HGVS NC_000020.10:g.21687286G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000074499.12,