rs121917716

Orientation

minus

Stabilized

minus

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

Make rs121917716(C;T)

Make rs121917716(T;T)

Reference

GRCh38 38.1/141

Chromosome

7

Position

41967908

Gene

GLI3

is a	snp
is	mentioned by
dbSNP	rs121917716
dbSNP (classic)	rs121917716
ClinGen	rs121917716
ebi	rs121917716
HLI	rs121917716
Exac	rs121917716
Gnomad	rs121917716
Varsome	rs121917716
LitVar	rs121917716
Map	rs121917716
PheGenI	rs121917716
Biobank	rs121917716
1000 genomes	rs121917716
hgdp	rs121917716
ensembl	rs121917716
geneview	rs121917716
scholar	rs121917716
google	rs121917716
pharmgkb	rs121917716
gwascentral	rs121917716
openSNP	rs121917716
23andMe	rs121917716
SNPshot	rs121917716
SNPdbe	rs121917716
MSV3d	rs121917716
GWAS Ctlg	rs121917716

Max Magnitude

0

OMIM	165240
Desc
Variant	0019
Related	also

ClinVar
Risk	rs121917716(T;T)
Alt	rs121917716(T;T)
Reference	Rs121917716(C;C)
Significance	Pathogenic
Disease	Greig cephalopolysyndactyly syndrome
Variation	info
Gene	GLI3
CLNDBN	Greig cephalopolysyndactyly syndrome
Reversed	1
HGVS	NC_000007.13:g.42007506G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000014843.26,