rs786204849

Orientation

minus

Stabilized

minus

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

Make rs786204849(C;T)

Make rs786204849(T;T)

Reference

GRCh38.p2 38.2/146

Chromosome

11

Position

65885181

Gene

FIBP

is a	snp
is	mentioned by
dbSNP	rs786204849
dbSNP (classic)	rs786204849
ClinGen	rs786204849
ebi	rs786204849
HLI	rs786204849
Exac	rs786204849
Gnomad	rs786204849
Varsome	rs786204849
LitVar	rs786204849
Map	rs786204849
PheGenI	rs786204849
Biobank	rs786204849
1000 genomes	rs786204849
hgdp	rs786204849
ensembl	rs786204849
geneview	rs786204849
scholar	rs786204849
google	rs786204849
pharmgkb	rs786204849
gwascentral	rs786204849
openSNP	rs786204849
23andMe	rs786204849
SNPshot	rs786204849
SNPdbe	rs786204849
MSV3d	rs786204849
GWAS Ctlg	rs786204849

Max Magnitude

0

ClinVar
Risk	rs786204849(T;T)
Alt	rs786204849(T;T)
Reference	Rs786204849(C;C)
Significance	Pathogenic
Disease	Congenital ocular coloboma Large hands Macrocephaly Overgrowth facial dysmorphism learning disabilities Thauvin-robinet-faivre syndrome
Variation	info
Gene	FIBP
CLNDBN	Congenital ocular coloboma Large hands Macrocephaly Overgrowth facial dysmorphism learning disabilities Thauvin-robinet-faivre syndrome
Reversed	1
HGVS	NC_000011.9:g.65652652G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000169762.1, RCV000240847.1,