rs121908189

Orientation

minus

Stabilized

minus

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

Make rs121908189(C;T)

Make rs121908189(T;T)

Reference

GRCh38 38.1/141

Chromosome

11

Position

119345538

Gene	C1QTNF5, MFRP

is a	snp
is	mentioned by
dbSNP	rs121908189
dbSNP (classic)	rs121908189
ClinGen	rs121908189
ebi	rs121908189
HLI	rs121908189
Exac	rs121908189
Gnomad	rs121908189
Varsome	rs121908189
LitVar	rs121908189
Map	rs121908189
PheGenI	rs121908189
Biobank	rs121908189
1000 genomes	rs121908189
hgdp	rs121908189
ensembl	rs121908189
geneview	rs121908189
scholar	rs121908189
google	rs121908189
pharmgkb	rs121908189
gwascentral	rs121908189
openSNP	rs121908189
23andMe	rs121908189
SNPshot	rs121908189
SNPdbe	rs121908189
MSV3d	rs121908189
GWAS Ctlg	rs121908189

GMAF

0.0004591

Max Magnitude

0

OMIM	606227
Desc
Variant	0002
Related	also

ClinVar
Risk	rs121908189(T;T)
Alt	rs121908189(T;T)
Reference	Rs121908189(C;C)
Significance	Pathogenic
Disease	Nanophthalmos 2 Microphthalmia
Variation	info
Gene	MFRP C1QTNF5
CLNDBN	Nanophthalmos 2 Microphthalmia, isolated 5
Reversed	1
HGVS	NC_000011.9:g.119216248G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000004732.6, RCV000347105.1,