rs114814747

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(G;G)	0	common in clinvar

Make rs114814747(A;A)

Make rs114814747(A;G)

Reference

GRCh38 38.1/141

Chromosome

2

Position

120990472

Gene

GLI2

is a	snp
is	mentioned by
dbSNP	rs114814747
dbSNP (classic)	rs114814747
ClinGen	rs114814747
ebi	rs114814747
HLI	rs114814747
Exac	rs114814747
Gnomad	rs114814747
Varsome	rs114814747
LitVar	rs114814747
Map	rs114814747
PheGenI	rs114814747
Biobank	rs114814747
1000 genomes	rs114814747
hgdp	rs114814747
ensembl	rs114814747
geneview	rs114814747
scholar	rs114814747
google	rs114814747
pharmgkb	rs114814747
gwascentral	rs114814747
openSNP	rs114814747
23andMe	rs114814747
SNPshot	rs114814747
SNPdbe	rs114814747
MSV3d	rs114814747
GWAS Ctlg	rs114814747

GMAF

0.005051

Max Magnitude

0

ClinVar
Risk	rs114814747(A;A) rs114814747(C;C)
Alt	rs114814747(A;A) rs114814747(C;C)
Reference	Rs114814747(G;G)
Significance	Other
Disease	Holoprosencephaly 9 not specified Holoprosencephaly
Variation	info
Gene	GLI2
CLNDBN	Holoprosencephaly 9 not specified Holoprosencephaly
Reversed	0
HGVS	NC_000002.11:g.121748048G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000030731.26, RCV000174553.2, RCV000266264.1,