rs121912610

Orientation

minus

Stabilized

minus

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

Make rs121912610(A;A)

Make rs121912610(A;G)

Reference

GRCh38 38.1/141

Chromosome

9

Position

14784494

Gene

FREM1

is a	snp
is	mentioned by
dbSNP	rs121912610
dbSNP (classic)	rs121912610
ClinGen	rs121912610
ebi	rs121912610
HLI	rs121912610
Exac	rs121912610
Gnomad	rs121912610
Varsome	rs121912610
LitVar	rs121912610
Map	rs121912610
PheGenI	rs121912610
Biobank	rs121912610
1000 genomes	rs121912610
hgdp	rs121912610
ensembl	rs121912610
geneview	rs121912610
scholar	rs121912610
google	rs121912610
pharmgkb	rs121912610
gwascentral	rs121912610
openSNP	rs121912610
23andMe	rs121912610
SNPshot	rs121912610
SNPdbe	rs121912610
MSV3d	rs121912610
GWAS Ctlg	rs121912610

Max Magnitude

0

OMIM	608944
Desc
Variant	0003
Related	also

ClinVar
Risk	rs121912610(A;A)
Alt	rs121912610(A;A)
Reference	Rs121912610(G;G)
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.14784492C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein) UniProtKB (variants)
CLNACC	RCV000002067.2, RCV000059639.1,

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