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rs1057518696

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057518696(-;-)
Make rs1057518696(-;G)
ReferenceGRCh38.p7 38.3/150
Chromosome2
Position120970438
GeneGLI2
is asnp
is mentioned by
dbSNPrs1057518696
dbSNP (old)rs1057518696
ClinGenrs1057518696
ebirs1057518696
HLIrs1057518696
Exacrs1057518696
Gnomadrs1057518696
Varsomers1057518696
Maprs1057518696
PheGenIrs1057518696
Biobankrs1057518696
1000 genomesrs1057518696
hgdprs1057518696
ensemblrs1057518696
gopubmedrs1057518696
geneviewrs1057518696
scholarrs1057518696
googlers1057518696
pharmgkbrs1057518696
gwascentralrs1057518696
openSNPrs1057518696
23andMers1057518696
23andMe allrs1057518696
SNPshotrs1057518696
SNPdbers1057518696
MSV3drs1057518696
GWAS Ctlgrs1057518696
Max Magnitude0
ClinVar
Risk rs1057518696(-;-)
Alt rs1057518696(-;-)
Reference Rs1057518696(G;G)
Significance Pathogenic
Disease Holoprosencephaly 9
Variation info
Gene GLI2
CLNDBN Holoprosencephaly 9
Reversed 0
HGVS NC_000002.11:g.121728014delG
CLNSRC
CLNACC RCV000415288.1,