rs797045054

Orientation

minus

Stabilized

minus

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

Make rs797045054(C;T)

Make rs797045054(T;T)

Reference

GRCh38.p2 38.2/146

Chromosome

11

Position

119344332

Gene	C1QTNF5, MFRP

is a	snp
is	mentioned by
dbSNP	rs797045054
dbSNP (classic)	rs797045054
ClinGen	rs797045054
ebi	rs797045054
HLI	rs797045054
Exac	rs797045054
Gnomad	rs797045054
Varsome	rs797045054
LitVar	rs797045054
Map	rs797045054
PheGenI	rs797045054
Biobank	rs797045054
1000 genomes	rs797045054
hgdp	rs797045054
ensembl	rs797045054
geneview	rs797045054
scholar	rs797045054
google	rs797045054
pharmgkb	rs797045054
gwascentral	rs797045054
openSNP	rs797045054
23andMe	rs797045054
SNPshot	rs797045054
SNPdbe	rs797045054
MSV3d	rs797045054
GWAS Ctlg	rs797045054

Max Magnitude

0

ClinVar
Risk	rs797045054(T;T)
Alt	rs797045054(T;T)
Reference	Rs797045054(C;C)
Significance	Pathogenic
Disease	Microphthalmia
Variation	info
Gene	MFRP C1QTNF5
CLNDBN	Microphthalmia, isolated 5
Reversed	1
HGVS	NC_000011.9:g.119215042G>A
CLNSRC	Baylor College of Medicine
CLNACC	RCV000191105.1,