rs730882142

Orientation

minus

Stabilized

minus

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

Make rs730882142(-;-)

Make rs730882142(-;TCTG)

Reference

GRCh38.p2 38.2/144

Chromosome

11

Position

119341663

Gene	C1QTNF5, MFRP

is a	snp
is	mentioned by
dbSNP	rs730882142
dbSNP (classic)	rs730882142
ClinGen	rs730882142
ebi	rs730882142
HLI	rs730882142
Exac	rs730882142
Gnomad	rs730882142
Varsome	rs730882142
LitVar	rs730882142
Map	rs730882142
PheGenI	rs730882142
Biobank	rs730882142
1000 genomes	rs730882142
hgdp	rs730882142
ensembl	rs730882142
geneview	rs730882142
scholar	rs730882142
google	rs730882142
pharmgkb	rs730882142
gwascentral	rs730882142
openSNP	rs730882142
23andMe	rs730882142
SNPshot	rs730882142
SNPdbe	rs730882142
MSV3d	rs730882142
GWAS Ctlg	rs730882142

Max Magnitude

0

ClinVar
Risk	rs730882142(-;-)
Alt	rs730882142(-;-)
Reference	Rs730882142(TCTG;TCTG)
Significance	Pathogenic
Disease	Microphthalmia
Variation	info
Gene	MFRP C1QTNF5
CLNDBN	Microphthalmia, isolated 5
Reversed	1
HGVS	NC_000011.9:g.119212373_119212376delCAGA
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000161913.5,