rs121912609

Orientation

minus

Stabilized

minus

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

Make rs121912609(C;T)

Make rs121912609(T;T)

Reference

GRCh38 38.1/141

Chromosome

9

Position

14824929

Gene

FREM1

is a	snp
is	mentioned by
dbSNP	rs121912609
dbSNP (classic)	rs121912609
ClinGen	rs121912609
ebi	rs121912609
HLI	rs121912609
Exac	rs121912609
Gnomad	rs121912609
Varsome	rs121912609
LitVar	rs121912609
Map	rs121912609
PheGenI	rs121912609
Biobank	rs121912609
1000 genomes	rs121912609
hgdp	rs121912609
ensembl	rs121912609
geneview	rs121912609
scholar	rs121912609
google	rs121912609
pharmgkb	rs121912609
gwascentral	rs121912609
openSNP	rs121912609
23andMe	rs121912609
SNPshot	rs121912609
SNPdbe	rs121912609
MSV3d	rs121912609
GWAS Ctlg	rs121912609

Max Magnitude

0

OMIM	608944
Desc
Variant	0002
Related	also

ClinVar
Risk	rs121912609(T;T)
Alt	rs121912609(T;T)
Reference	Rs121912609(C;C)
Significance	Pathogenic
Disease	Bifid nose with or without anorectal and renal anomalies not provided
Variation	info
Gene	FREM1
CLNDBN	Bifid nose with or without anorectal and renal anomalies not provided
Reversed	1
HGVS	NC_000009.11:g.14824927G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein) UniProtKB (variants)
CLNACC	RCV000002066.2, RCV000059637.1,

[PMID 19732862] FREM1 mutations cause bifid nose, renal agenesis, and anorectal malformations syndrome.