rs121908190

Orientation

minus

Stabilized

minus

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

Make rs121908190(C;C)

Make rs121908190(C;T)

Reference

GRCh38 38.1/141

Chromosome

11

Position

119345516

Gene	C1QTNF5, MFRP

is a	snp
is	mentioned by
dbSNP	rs121908190
dbSNP (classic)	rs121908190
ClinGen	rs121908190
ebi	rs121908190
HLI	rs121908190
Exac	rs121908190
Gnomad	rs121908190
Varsome	rs121908190
LitVar	rs121908190
Map	rs121908190
PheGenI	rs121908190
Biobank	rs121908190
1000 genomes	rs121908190
hgdp	rs121908190
ensembl	rs121908190
geneview	rs121908190
scholar	rs121908190
google	rs121908190
pharmgkb	rs121908190
gwascentral	rs121908190
openSNP	rs121908190
23andMe	rs121908190
SNPshot	rs121908190
SNPdbe	rs121908190
MSV3d	rs121908190
GWAS Ctlg	rs121908190

Max Magnitude

0

OMIM	606227
Desc
Variant	0004
Related	also

ClinVar
Risk	rs121908190(C;C)
Alt	rs121908190(C;C)
Reference	Rs121908190(T;T)
Significance	Pathogenic
Disease	Nanophthalmos 2
Variation	info
Gene	MFRP C1QTNF5
CLNDBN	Nanophthalmos 2
Reversed	1
HGVS	NC_000011.9:g.119216226A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000004734.4,