rs730882144

Orientation

minus

Stabilized

minus

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

Make rs730882144(C;T)

Make rs730882144(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

11

Position

119341739

Gene	C1QTNF5, MFRP

is a	snp
is	mentioned by
dbSNP	rs730882144
dbSNP (classic)	rs730882144
ClinGen	rs730882144
ebi	rs730882144
HLI	rs730882144
Exac	rs730882144
Gnomad	rs730882144
Varsome	rs730882144
LitVar	rs730882144
Map	rs730882144
PheGenI	rs730882144
Biobank	rs730882144
1000 genomes	rs730882144
hgdp	rs730882144
ensembl	rs730882144
geneview	rs730882144
scholar	rs730882144
google	rs730882144
pharmgkb	rs730882144
gwascentral	rs730882144
openSNP	rs730882144
23andMe	rs730882144
SNPshot	rs730882144
SNPdbe	rs730882144
MSV3d	rs730882144
GWAS Ctlg	rs730882144

Max Magnitude

0

ClinVar
Risk	rs730882144(T;T)
Alt	rs730882144(T;T)
Reference	Rs730882144(C;C)
Significance	Pathogenic
Disease	Microphthalmia
Variation	info
Gene	MFRP C1QTNF5
CLNDBN	Microphthalmia, isolated 5
Reversed	1
HGVS	NC_000011.9:g.119212449G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000161916.5,