rs116840744

Orientation

minus

Stabilized

minus

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

Make rs116840744(-;-)

Make rs116840744(-;G)

Reference

GRCh38 38.1/141

Chromosome

7

Position

41972417

Gene

GLI3

is a	snp
is	mentioned by
dbSNP	rs116840744
dbSNP (classic)	rs116840744
ClinGen	rs116840744
ebi	rs116840744
HLI	rs116840744
Exac	rs116840744
Gnomad	rs116840744
Varsome	rs116840744
LitVar	rs116840744
Map	rs116840744
PheGenI	rs116840744
Biobank	rs116840744
1000 genomes	rs116840744
hgdp	rs116840744
ensembl	rs116840744
geneview	rs116840744
scholar	rs116840744
google	rs116840744
pharmgkb	rs116840744
gwascentral	rs116840744
openSNP	rs116840744
23andMe	rs116840744
SNPshot	rs116840744
SNPdbe	rs116840744
MSV3d	rs116840744
GWAS Ctlg	rs116840744

Max Magnitude

0

OMIM	165240
Desc
Variant	0002
Related	also

ClinVar
Risk	rs116840744(-;-)
Alt	rs116840744(-;-)
Reference	Rs116840744(G;G)
Significance	Pathogenic
Disease	Pallister-Hall syndrome
Variation	info
Gene	GLI3
CLNDBN	Pallister-Hall syndrome
Reversed	1
HGVS	NC_000007.13:g.42012016delC
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000014825.28,

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

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