rs116840769

minus

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

Make rs116840769(G;T)

Make rs116840769(T;T)

Reference

GRCh38 38.1/141

Chromosome

7

Position

41965617

Gene

GLI3

is a	snp
is	mentioned by
dbSNP	rs116840769
dbSNP (classic)	rs116840769
ClinGen	rs116840769
ebi	rs116840769
HLI	rs116840769
Exac	rs116840769
Gnomad	rs116840769
Varsome	rs116840769
LitVar	rs116840769
Map	rs116840769
PheGenI	rs116840769
Biobank	rs116840769
1000 genomes	rs116840769
hgdp	rs116840769
ensembl	rs116840769
geneview	rs116840769
scholar	rs116840769
google	rs116840769
pharmgkb	rs116840769
gwascentral	rs116840769
openSNP	rs116840769
23andMe	rs116840769
SNPshot	rs116840769
SNPdbe	rs116840769
MSV3d	rs116840769
GWAS Ctlg	rs116840769

Max Magnitude

0

ClinVar
Risk	rs116840769(C;C) rs116840769(T;T)
Alt	rs116840769(C;C) rs116840769(T;T)
Reference	Rs116840769(G;G)
Significance	Pathogenic
Disease	Pallister-Hall syndrome
Variation	info
Gene	GLI3
CLNDBN	Pallister-Hall syndrome
Reversed	1
HGVS	NC_000007.13:g.42005215C>A
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000031883.1,

[PMID 15739154 ] Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations.