rs587777313

Orientation

plus

Stabilized

plus

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

Make rs587777313(-;-)

Reference

GRCh38 38.1/142

Chromosome

5

Position

150375487

Gene

TCOF1

is a	snp
is	mentioned by
dbSNP	rs587777313
dbSNP (classic)	rs587777313
ClinGen	rs587777313
ebi	rs587777313
HLI	rs587777313
Exac	rs587777313
Gnomad	rs587777313
Varsome	rs587777313
LitVar	rs587777313
Map	rs587777313
PheGenI	rs587777313
Biobank	rs587777313
1000 genomes	rs587777313
hgdp	rs587777313
ensembl	rs587777313
geneview	rs587777313
scholar	rs587777313
google	rs587777313
pharmgkb	rs587777313
gwascentral	rs587777313
openSNP	rs587777313
23andMe	rs587777313
SNPshot	rs587777313
SNPdbe	rs587777313
MSV3d	rs587777313
GWAS Ctlg	rs587777313

Max Magnitude

5

ClinVar
Risk	rs587777313(-;-)
Alt	rs587777313(-;-)
Reference	Rs587777313(AGAG;AGAG)
Significance	Pathogenic
Disease	Treacher Collins syndrome 1
Variation	info
Gene	TCOF1
CLNDBN	Treacher Collins syndrome 1
Reversed	0
HGVS	NC_000005.9:g.149755050_149755053delAGAG
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000114943.2,