rs184394424

Orientation

plus

Stabilized

plus

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

Make rs184394424(C;T)

Make rs184394424(T;T)

Reference

GRCh38 38.1/141

Chromosome

9

Position

14842561

Gene

FREM1

is a	snp
is	mentioned by
dbSNP	rs184394424
dbSNP (classic)	rs184394424
ClinGen	rs184394424
ebi	rs184394424
HLI	rs184394424
Exac	rs184394424
Gnomad	rs184394424
Varsome	rs184394424
LitVar	rs184394424
Map	rs184394424
PheGenI	rs184394424
Biobank	rs184394424
1000 genomes	rs184394424
hgdp	rs184394424
ensembl	rs184394424
geneview	rs184394424
scholar	rs184394424
google	rs184394424
pharmgkb	rs184394424
gwascentral	rs184394424
openSNP	rs184394424
23andMe	rs184394424
SNPshot	rs184394424
SNPdbe	rs184394424
MSV3d	rs184394424
GWAS Ctlg	rs184394424

GMAF

0.0004591

Max Magnitude

0

ClinVar
Risk	rs184394424(G;G) rs184394424(T;T)
Alt	rs184394424(G;G) rs184394424(T;T)
Reference	Rs184394424(C;C)
Significance	Pathogenic
Disease	Trigonocephaly 2 not provided Peters anomaly Rieger anomaly
Variation	info
Gene	FREM1
CLNDBN	Trigonocephaly 2 not provided Peters anomaly Rieger anomaly
Reversed	0
HGVS	NC_000009.11:g.14842559C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein) UniProtKB (variants)
CLNACC	RCV000023746.2, RCV000059636.1, RCV000207399.1,

[PMID 21931569] Heterozygous mutations of FREM1 are associated with an increased risk of isolated metopic craniosynostosis in humans and mice.