rs587776582

Orientation

plus

Stabilized

plus

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

Make rs587776582(-;-)

Make rs587776582(AAGAA;AAGAA)

Reference

GRCh38 38.1/142

Chromosome

5

Position

150398380

Gene

TCOF1

is a	snp
is	mentioned by
dbSNP	rs587776582
dbSNP (classic)	rs587776582
ClinGen	rs587776582
ebi	rs587776582
HLI	rs587776582
Exac	rs587776582
Gnomad	rs587776582
Varsome	rs587776582
LitVar	rs587776582
Map	rs587776582
PheGenI	rs587776582
Biobank	rs587776582
1000 genomes	rs587776582
hgdp	rs587776582
ensembl	rs587776582
geneview	rs587776582
scholar	rs587776582
google	rs587776582
pharmgkb	rs587776582
gwascentral	rs587776582
openSNP	rs587776582
23andMe	rs587776582
SNPshot	rs587776582
SNPdbe	rs587776582
MSV3d	rs587776582
GWAS Ctlg	rs587776582

Max Magnitude

5

ClinVar
Risk	rs587776582(-;-)
Alt	rs587776582(-;-)
Reference	Rs587776582(AAAAG;AAAAG)
Significance	Pathogenic
Disease	Treacher Collins syndrome 1
Variation	info
Gene	TCOF1
CLNDBN	Treacher Collins syndrome 1
Reversed	0
HGVS	NC_000005.9:g.149777943_149777947delAAGAA
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000004169.3,