rs587776583

Orientation

plus

Stabilized

plus

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

Make rs587776583(-;-)

Reference

GRCh38 38.1/142

Chromosome

5

Position

150375489

Gene

TCOF1

is a	snp
is	mentioned by
dbSNP	rs587776583
dbSNP (classic)	rs587776583
ClinGen	rs587776583
ebi	rs587776583
HLI	rs587776583
Exac	rs587776583
Gnomad	rs587776583
Varsome	rs587776583
LitVar	rs587776583
Map	rs587776583
PheGenI	rs587776583
Biobank	rs587776583
1000 genomes	rs587776583
hgdp	rs587776583
ensembl	rs587776583
geneview	rs587776583
scholar	rs587776583
google	rs587776583
pharmgkb	rs587776583
gwascentral	rs587776583
openSNP	rs587776583
23andMe	rs587776583
SNPshot	rs587776583
SNPdbe	rs587776583
MSV3d	rs587776583
GWAS Ctlg	rs587776583

Max Magnitude

5

ClinVar
Risk	rs587776583(-;-)
Alt	rs587776583(-;-)
Reference	Rs587776583(AG;AG)
Significance	Pathogenic
Disease	Treacher Collins syndrome 1
Variation	info
Gene	TCOF1
CLNDBN	Treacher Collins syndrome 1
Reversed	0
HGVS	NC_000005.9:g.149755052_149755053delAG
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000004171.3,