rs116840746

Orientation

minus

Stabilized

minus

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

Make rs116840746(AT;AT)

Make rs116840746(AT;GG)

Reference

GRCh38 38.1/141

Chromosome

7

Position

41972381

Gene

GLI3

is a	snp
is	mentioned by
dbSNP	rs116840746
dbSNP (classic)	rs116840746
ClinGen	rs116840746
ebi	rs116840746
HLI	rs116840746
Exac	rs116840746
Gnomad	rs116840746
Varsome	rs116840746
LitVar	rs116840746
Map	rs116840746
PheGenI	rs116840746
Biobank	rs116840746
1000 genomes	rs116840746
hgdp	rs116840746
ensembl	rs116840746
geneview	rs116840746
scholar	rs116840746
google	rs116840746
pharmgkb	rs116840746
gwascentral	rs116840746
openSNP	rs116840746
23andMe	rs116840746
SNPshot	rs116840746
SNPdbe	rs116840746
MSV3d	rs116840746
GWAS Ctlg	rs116840746

Max Magnitude

0

ClinVar
Risk	rs116840746(AT;AT)
Alt	rs116840746(AT;AT)
Reference	Rs116840746(GG;GG)
Significance	Pathogenic
Disease	Pallister-Hall syndrome
Variation	info
Gene	GLI3
CLNDBN	Pallister-Hall syndrome
Reversed	1
HGVS	NC_000007.13:g.42011980_42011981delCCinsAT
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000031862.1,

[PMID 15046066] Gene symbol: GLI3. Disease: Pallister-Hall syndrome.