rs1057518689

Orientation

plus

Stabilized

plus

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

Make rs1057518689(-;C)

Make rs1057518689(C;C)

Reference

GRCh38.p7 38.3/150

Chromosome

2

Position

120989175

Gene

GLI2

is a	snp
is	mentioned by
dbSNP	rs1057518689
dbSNP (classic)	rs1057518689
ClinGen	rs1057518689
ebi	rs1057518689
HLI	rs1057518689
Exac	rs1057518689
Gnomad	rs1057518689
Varsome	rs1057518689
LitVar	rs1057518689
Map	rs1057518689
PheGenI	rs1057518689
Biobank	rs1057518689
1000 genomes	rs1057518689
hgdp	rs1057518689
ensembl	rs1057518689
geneview	rs1057518689
scholar	rs1057518689
google	rs1057518689
pharmgkb	rs1057518689
gwascentral	rs1057518689
openSNP	rs1057518689
23andMe	rs1057518689
SNPshot	rs1057518689
SNPdbe	rs1057518689
MSV3d	rs1057518689
GWAS Ctlg	rs1057518689

Max Magnitude

0

ClinVar
Risk	rs1057518689(C;C)
Alt	rs1057518689(C;C)
Reference	Rs1057518689(-;-)
Significance	Pathogenic
Disease	Holoprosencephaly 9
Variation	info
Gene	GLI2
CLNDBN	Holoprosencephaly 9
Reversed	0
HGVS	NC_000002.11:g.121746751dupC
CLNSRC
CLNACC	RCV000414993.1,