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rs879255243

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(GGAG;GGAG) 0 common in clinvar
Make rs879255243(-;-)
Make rs879255243(-;GGAG)
ReferenceGRCh38.p2 38.2/147
Chromosome1
Position24347487
GeneGRHL3
is asnp
is mentioned by
dbSNPrs879255243
dbSNP (classic)rs879255243
ClinGenrs879255243
ebirs879255243
HLIrs879255243
Exacrs879255243
Gnomadrs879255243
Varsomers879255243
LitVarrs879255243
Maprs879255243
PheGenIrs879255243
Biobankrs879255243
1000 genomesrs879255243
hgdprs879255243
ensemblrs879255243
geneviewrs879255243
scholarrs879255243
googlers879255243
pharmgkbrs879255243
gwascentralrs879255243
openSNPrs879255243
23andMers879255243
SNPshotrs879255243
SNPdbers879255243
MSV3drs879255243
GWAS Ctlgrs879255243
Max Magnitude0
ClinVar
Risk rs879255243(-;-)
Alt rs879255243(-;-)
Reference Rs879255243(GGAG;GGAG)
Significance Pathogenic
Disease Van der Woude syndrome 2
Variation info
Gene GRHL3
CLNDBN Van der Woude syndrome 2
Reversed 0
HGVS NC_000001.10:g.24673977_24673980delGGAG
CLNSRC OMIM Allelic Variant
CLNACC RCV000087750.3,