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rs587777007

From SNPedia

Orientationplus
Stabilizedminus
Geno Mag Summary
(AG;AG) 0 common in clinvar
(AGG;AGG) 0 common in clinvar
(CT;CT) 0 common in clinvar
Make rs587777007(-;-)
Make rs587777007(-;CT)
ReferenceGRCh38 38.1/142
Chromosome19
Position42249220
GeneERF
is asnp
is mentioned by
dbSNPrs587777007
dbSNP (classic)rs587777007
ClinGenrs587777007
ebirs587777007
HLIrs587777007
Exacrs587777007
Gnomadrs587777007
Varsomers587777007
LitVarrs587777007
Maprs587777007
PheGenIrs587777007
Biobankrs587777007
1000 genomesrs587777007
hgdprs587777007
ensemblrs587777007
geneviewrs587777007
scholarrs587777007
googlers587777007
pharmgkbrs587777007
gwascentralrs587777007
openSNPrs587777007
23andMers587777007
SNPshotrs587777007
SNPdbers587777007
MSV3drs587777007
GWAS Ctlgrs587777007
Max Magnitude0
ClinVar
Risk Rs587777007(CT;CT) rs587777007(-;-)
Alt Rs587777007(CT;CT) rs587777007(-;-)
Reference Rs587777007(AG;AG)
Significance Pathogenic
Disease Craniosynostosis 4
Variation info
Gene ERF
CLNDBN Craniosynostosis 4
Reversed 1
HGVS NC_000019.9:g.42753372_42753373delCT
CLNSRC OMIM Allelic Variant
CLNACC RCV000049337.4,