rs387906945

Orientation

minus

Stabilized

minus

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

Make rs387906945(C;C)

Make rs387906945(C;T)

Reference

GRCh38 38.1/141

Chromosome

12

Position

7690059

Gene

GDF3

is a	snp
is	mentioned by
dbSNP	rs387906945
dbSNP (classic)	rs387906945
ClinGen	rs387906945
ebi	rs387906945
HLI	rs387906945
Exac	rs387906945
Gnomad	rs387906945
Varsome	rs387906945
LitVar	rs387906945
Map	rs387906945
PheGenI	rs387906945
Biobank	rs387906945
1000 genomes	rs387906945
hgdp	rs387906945
ensembl	rs387906945
geneview	rs387906945
scholar	rs387906945
google	rs387906945
pharmgkb	rs387906945
gwascentral	rs387906945
openSNP	rs387906945
23andMe	rs387906945
SNPshot	rs387906945
SNPdbe	rs387906945
MSV3d	rs387906945
GWAS Ctlg	rs387906945

Max Magnitude

0

ClinVar
Risk	rs387906945(C;C) rs387906945(G;G)
Alt	rs387906945(C;C) rs387906945(G;G)
Reference	Rs387906945(T;T)
Significance	Pathogenic
Disease	not provided Microphthalmia Congenital ocular coloboma
Variation	info
Gene	GDF3
CLNDBN	not provided Microphthalmia, isolated 7 Congenital ocular coloboma
Reversed	1
HGVS	NC_000012.11:g.7842655A>C; NC_000012.11:g.7842655A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000478595.1, RCV000023557.2, RCV000033195.2,