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rs1057518689

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1057518689(-;C)
Make rs1057518689(C;C)
ReferenceGRCh38.p7 38.3/150
Chromosome2
Position120989175
GeneGLI2
is asnp
is mentioned by
dbSNPrs1057518689
dbSNP (old)rs1057518689
ClinGenrs1057518689
ebirs1057518689
HLIrs1057518689
Exacrs1057518689
Gnomadrs1057518689
Varsomers1057518689
LitVarrs1057518689
Maprs1057518689
PheGenIrs1057518689
Biobankrs1057518689
1000 genomesrs1057518689
hgdprs1057518689
ensemblrs1057518689
gopubmedrs1057518689
geneviewrs1057518689
scholarrs1057518689
googlers1057518689
pharmgkbrs1057518689
gwascentralrs1057518689
openSNPrs1057518689
23andMers1057518689
23andMe allrs1057518689
SNPshotrs1057518689
SNPdbers1057518689
MSV3drs1057518689
GWAS Ctlgrs1057518689
Max Magnitude0
ClinVar
Risk rs1057518689(C;C)
Alt rs1057518689(C;C)
Reference Rs1057518689(-;-)
Significance Pathogenic
Disease Holoprosencephaly 9
Variation info
Gene GLI2
CLNDBN Holoprosencephaly 9
Reversed 0
HGVS NC_000002.11:g.121746751dupC
CLNSRC
CLNACC RCV000414993.1,