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rs121917708

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121917708(C;G)
Make rs121917708(G;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position120978500
GeneGLI2
is asnp
is mentioned by
dbSNPrs121917708
ebirs121917708
HLIrs121917708
Exacrs121917708
Varsomers121917708
Maprs121917708
PheGenIrs121917708
hapmaprs121917708
1000 genomesrs121917708
hgdprs121917708
ensemblrs121917708
gopubmedrs121917708
geneviewrs121917708
scholarrs121917708
googlers121917708
pharmgkbrs121917708
gwascentralrs121917708
openSNPrs121917708
23andMers121917708
23andMe allrs121917708
SNP Nexus

SNPshotrs121917708
SNPdbers121917708
MSV3drs121917708
GWAS Ctlgrs121917708
Max Magnitude0
OMIM165230
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121917708(G,T;G,T)
Alt rs121917708(G,T;G,T)
Reference rs121917708(C;C)
Significance Pathogenic
Disease Holoprosencephaly 9
Variation info
Gene GLI2
CLNDBN Holoprosencephaly 9
Reversed 0
HGVS NC_000002.11:g.121736076C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000014848.25,