rs387906946

Orientation

minus

Stabilized

minus

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

Make rs387906946(C;T)

Make rs387906946(T;T)

Reference

GRCh38 38.1/141

Chromosome

12

Position

7690153

Gene

GDF3

is a	snp
is	mentioned by
dbSNP	rs387906946
dbSNP (classic)	rs387906946
ClinGen	rs387906946
ebi	rs387906946
HLI	rs387906946
Exac	rs387906946
Gnomad	rs387906946
Varsome	rs387906946
LitVar	rs387906946
Map	rs387906946
PheGenI	rs387906946
Biobank	rs387906946
1000 genomes	rs387906946
hgdp	rs387906946
ensembl	rs387906946
geneview	rs387906946
scholar	rs387906946
google	rs387906946
pharmgkb	rs387906946
gwascentral	rs387906946
openSNP	rs387906946
23andMe	rs387906946
SNPshot	rs387906946
SNPdbe	rs387906946
MSV3d	rs387906946
GWAS Ctlg	rs387906946

Max Magnitude

0

ClinVar
Risk	rs387906946(T;T)
Alt	rs387906946(T;T)
Reference	Rs387906946(C;C)
Significance	Pathogenic
Disease	Microphthalmia
Variation	info
Gene	GDF3
CLNDBN	Microphthalmia, isolated, with coloboma 6
Reversed	1
HGVS	NC_000012.11:g.7842749G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000023559.2,