rs587777314

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(-;-)	0	common in clinvar
(-;G)	5	Treacher Collins syndrome, type 1 (predicted)

Make rs587777314(G;G)

Reference

GRCh38 38.1/142

Chromosome

5

Position

150389947

Gene

TCOF1

is a	snp
is	mentioned by
dbSNP	rs587777314
dbSNP (classic)	rs587777314
ClinGen	rs587777314
ebi	rs587777314
HLI	rs587777314
Exac	rs587777314
Gnomad	rs587777314
Varsome	rs587777314
LitVar	rs587777314
Map	rs587777314
PheGenI	rs587777314
Biobank	rs587777314
1000 genomes	rs587777314
hgdp	rs587777314
ensembl	rs587777314
geneview	rs587777314
scholar	rs587777314
google	rs587777314
pharmgkb	rs587777314
gwascentral	rs587777314
openSNP	rs587777314
23andMe	rs587777314
SNPshot	rs587777314
SNPdbe	rs587777314
MSV3d	rs587777314
GWAS Ctlg	rs587777314

Max Magnitude

5

ClinVar
Risk	rs587777314(G;G)
Alt	rs587777314(G;G)
Reference	Rs587777314(-;-)
Significance	Pathogenic
Disease	Treacher Collins syndrome 1
Variation	info
Gene	TCOF1
CLNDBN	Treacher Collins syndrome 1
Reversed	0
HGVS	NC_000005.9:g.149769510dupG
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000114944.2,