rs587776584

Orientation

plus

Stabilized

plus

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

Make rs587776584(-;-)

Make rs587776584(AAGGTGAGTGGGACTGCC;AAGGTGAGTGGGACTGCC)

Reference

GRCh38 38.1/142

Chromosome

5

Position

150367915

Gene

TCOF1

is a	snp
is	mentioned by
dbSNP	rs587776584
dbSNP (classic)	rs587776584
ClinGen	rs587776584
ebi	rs587776584
HLI	rs587776584
Exac	rs587776584
Gnomad	rs587776584
Varsome	rs587776584
LitVar	rs587776584
Map	rs587776584
PheGenI	rs587776584
Biobank	rs587776584
1000 genomes	rs587776584
hgdp	rs587776584
ensembl	rs587776584
geneview	rs587776584
scholar	rs587776584
google	rs587776584
pharmgkb	rs587776584
gwascentral	rs587776584
openSNP	rs587776584
23andMe	rs587776584
SNPshot	rs587776584
SNPdbe	rs587776584
MSV3d	rs587776584
GWAS Ctlg	rs587776584

Max Magnitude

5

ClinVar
Risk	rs587776584(-;-)
Alt	rs587776584(-;-)
Reference	Rs587776584(GCCAAGGTGAGTGGGACT;GCCAAGGTGAGTGGGACT)
Significance	Pathogenic
Disease	Treacher Collins syndrome 1
Variation	info
Gene	TCOF1
CLNDBN	Treacher Collins syndrome 1
Reversed	0
HGVS	NC_000005.9:g.149747478_149747495del18
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000004173.5,