rs730882143

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(-;-)	0	common in clinvar
(-;T)	3	Carrier of a posterior microphthalmia mutation

Make rs730882143(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

11

Position

119345569

Gene	C1QTNF5, MFRP

is a	snp
is	mentioned by
dbSNP	rs730882143
dbSNP (classic)	rs730882143
ClinGen	rs730882143
ebi	rs730882143
HLI	rs730882143
Exac	rs730882143
Gnomad	rs730882143
Varsome	rs730882143
LitVar	rs730882143
Map	rs730882143
PheGenI	rs730882143
Biobank	rs730882143
1000 genomes	rs730882143
hgdp	rs730882143
ensembl	rs730882143
geneview	rs730882143
scholar	rs730882143
google	rs730882143
pharmgkb	rs730882143
gwascentral	rs730882143
openSNP	rs730882143
23andMe	rs730882143
SNPshot	rs730882143
SNPdbe	rs730882143
MSV3d	rs730882143
GWAS Ctlg	rs730882143

Max Magnitude

3

aka c.491_492insT (p.Asn167fs)

ClinVar
Risk	rs730882143(T;T)
Alt	rs730882143(T;T)
Reference	Rs730882143(-;-)
Significance	Pathogenic
Disease	Microphthalmia
Variation	info
Gene	MFRP C1QTNF5
CLNDBN	Microphthalmia, isolated 5
Reversed	1
HGVS	NC_000011.9:g.119216279_119216280insA
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000161915.5,