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rs1057520110

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057520110(C;T)
Make rs1057520110(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome19
Position852978
GeneELANE
is asnp
is mentioned by
dbSNPrs1057520110
dbSNP (classic)rs1057520110
ClinGenrs1057520110
ebirs1057520110
HLIrs1057520110
Exacrs1057520110
Gnomadrs1057520110
Varsomers1057520110
LitVarrs1057520110
Maprs1057520110
PheGenIrs1057520110
Biobankrs1057520110
1000 genomesrs1057520110
hgdprs1057520110
ensemblrs1057520110
geneviewrs1057520110
scholarrs1057520110
googlers1057520110
pharmgkbrs1057520110
gwascentralrs1057520110
openSNPrs1057520110
23andMers1057520110
SNPshotrs1057520110
SNPdbers1057520110
MSV3drs1057520110
GWAS Ctlgrs1057520110
Max Magnitude0
ClinVar
Risk rs1057520110(T;T)
Alt rs1057520110(T;T)
Reference Rs1057520110(C;C)
Significance Pathogenic
Disease not provided
Variation info
Gene ELANE
CLNDBN not provided
Reversed 0
HGVS NC_000019.9:g.852978C>T
CLNSRC
CLNACC RCV000429848.1,