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rs1057518657

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057518657(A;T)
Make rs1057518657(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome2
Position120990568
GeneGLI2
is asnp
is mentioned by
dbSNPrs1057518657
dbSNP (classic)rs1057518657
ClinGenrs1057518657
ebirs1057518657
HLIrs1057518657
Exacrs1057518657
Gnomadrs1057518657
Varsomers1057518657
LitVarrs1057518657
Maprs1057518657
PheGenIrs1057518657
Biobankrs1057518657
1000 genomesrs1057518657
hgdprs1057518657
ensemblrs1057518657
geneviewrs1057518657
scholarrs1057518657
googlers1057518657
pharmgkbrs1057518657
gwascentralrs1057518657
openSNPrs1057518657
23andMers1057518657
23andMe allrs1057518657
SNPshotrs1057518657
SNPdbers1057518657
MSV3drs1057518657
GWAS Ctlgrs1057518657
Max Magnitude0
ClinVar
Risk rs1057518657(T;T)
Alt rs1057518657(T;T)
Reference Rs1057518657(A;A)
Significance Probable-Pathogenic
Disease Holoprosencephaly 9
Variation info
Gene GLI2
CLNDBN Holoprosencephaly 9
Reversed 0
HGVS NC_000002.11:g.121748144A>T
CLNSRC
CLNACC RCV000415289.1,