rs28933372

Orientation

minus

Stabilized

minus

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

Make rs28933372(C;G)

Reference

GRCh38 38.1/141

Chromosome

7

Position

41966273

Gene

GLI3

is a	snp
is	mentioned by
dbSNP	rs28933372
dbSNP (classic)	rs28933372
ClinGen	rs28933372
ebi	rs28933372
HLI	rs28933372
Exac	rs28933372
Gnomad	rs28933372
Varsome	rs28933372
LitVar	rs28933372
Map	rs28933372
PheGenI	rs28933372
Biobank	rs28933372
1000 genomes	rs28933372
hgdp	rs28933372
ensembl	rs28933372
geneview	rs28933372
scholar	rs28933372
google	rs28933372
pharmgkb	rs28933372
gwascentral	rs28933372
openSNP	rs28933372
23andMe	rs28933372
SNPshot	rs28933372
SNPdbe	rs28933372
MSV3d	rs28933372
GWAS Ctlg	rs28933372

Max Magnitude

0

OMIM	165240
Desc	ACROCALLOSAL SYNDROME
Variant	0013
Related	also

ClinVar
Risk	Rs28933372(C;C)
Alt	Rs28933372(C;C)
Reference	Rs28933372(G;G)
Significance	Pathogenic
Disease	Greig cephalopolysyndactyly syndrome
Variation	info
Gene	GLI3
CLNDBN	Greig cephalopolysyndactyly syndrome, severe
Reversed	1
HGVS	NC_000007.13:g.42005871C>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000030896.25,