rs730882141

Orientation

minus

Stabilized

minus

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

Make rs730882141(A;A)

Make rs730882141(A;C)

Reference

GRCh38.p2 38.2/144

Chromosome

11

Position

119344339

Gene	C1QTNF5, MFRP

is a	snp
is	mentioned by
dbSNP	rs730882141
dbSNP (classic)	rs730882141
ClinGen	rs730882141
ebi	rs730882141
HLI	rs730882141
Exac	rs730882141
Gnomad	rs730882141
Varsome	rs730882141
LitVar	rs730882141
Map	rs730882141
PheGenI	rs730882141
Biobank	rs730882141
1000 genomes	rs730882141
hgdp	rs730882141
ensembl	rs730882141
geneview	rs730882141
scholar	rs730882141
google	rs730882141
pharmgkb	rs730882141
gwascentral	rs730882141
openSNP	rs730882141
23andMe	rs730882141
SNPshot	rs730882141
SNPdbe	rs730882141
MSV3d	rs730882141
GWAS Ctlg	rs730882141

Max Magnitude

0

ClinVar
Risk	rs730882141(A;A)
Alt	rs730882141(A;A)
Reference	Rs730882141(C;C)
Significance	Pathogenic
Disease	Microphthalmia
Variation	info
Gene	MFRP C1QTNF5
CLNDBN	Microphthalmia, isolated 5
Reversed	1
HGVS	NC_000011.9:g.119215049G>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000161912.5,