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rs114814747

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs114814747(A;A)
Make rs114814747(A;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position120990472
GeneGLI2
is asnp
is mentioned by
dbSNPrs114814747
ebirs114814747
HLIrs114814747
Exacrs114814747
Varsomers114814747
Maprs114814747
PheGenIrs114814747
hapmaprs114814747
1000 genomesrs114814747
hgdprs114814747
ensemblrs114814747
gopubmedrs114814747
geneviewrs114814747
scholarrs114814747
googlers114814747
pharmgkbrs114814747
gwascentralrs114814747
openSNPrs114814747
23andMers114814747
23andMe allrs114814747
SNP Nexus

SNPshotrs114814747
SNPdbers114814747
MSV3drs114814747
GWAS Ctlgrs114814747
GMAF0.005051
Max Magnitude0
ClinVar
Risk rs114814747(A,C;A,C)
Alt rs114814747(A,C;A,C)
Reference rs114814747(G;G)
Significance Pathogenic
Disease Holoprosencephaly 9 not specified
Variation info
Gene GLI2
CLNDBN Holoprosencephaly 9 not specified
Reversed 0
HGVS NC_000002.11:g.121748048G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000030731.25, RCV000174553.1,