rs116840743

Orientation

minus

Stabilized

minus

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

Make rs116840743(-;-)

Make rs116840743(-;G)

Reference

GRCh38 38.1/141

Chromosome

7

Position

41972428

Gene

GLI3

is a	snp
is	mentioned by
dbSNP	rs116840743
dbSNP (classic)	rs116840743
ClinGen	rs116840743
ebi	rs116840743
HLI	rs116840743
Exac	rs116840743
Gnomad	rs116840743
Varsome	rs116840743
LitVar	rs116840743
Map	rs116840743
PheGenI	rs116840743
Biobank	rs116840743
1000 genomes	rs116840743
hgdp	rs116840743
ensembl	rs116840743
geneview	rs116840743
scholar	rs116840743
google	rs116840743
pharmgkb	rs116840743
gwascentral	rs116840743
openSNP	rs116840743
23andMe	rs116840743
SNPshot	rs116840743
SNPdbe	rs116840743
MSV3d	rs116840743
GWAS Ctlg	rs116840743

Max Magnitude

0

OMIM	165240
Desc
Variant	0003
Related	also

ClinVar
Risk	rs116840743(-;-)
Alt	rs116840743(-;-)
Reference	Rs116840743(G;G)
Significance	Pathogenic
Disease	Pallister-Hall syndrome
Variation	info
Gene	GLI3
CLNDBN	Pallister-Hall syndrome
Reversed	1
HGVS	NC_000007.13:g.42012027delC
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000014826.24,

[PMID 9054938] GLI3 frameshift mutations cause autosomal dominant Pallister-Hall syndrome.

[PMID 9192261] Linkage mapping and phenotypic analysis of autosomal dominant Pallister-Hall syndrome.