rs587776580

Orientation

plus

Stabilized

plus

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

Make rs587776580(A;A)

Reference

GRCh38 38.1/142

Chromosome

5

Position

150368759

Gene

TCOF1

is a	snp
is	mentioned by
dbSNP	rs587776580
dbSNP (classic)	rs587776580
ClinGen	rs587776580
ebi	rs587776580
HLI	rs587776580
Exac	rs587776580
Gnomad	rs587776580
Varsome	rs587776580
LitVar	rs587776580
Map	rs587776580
PheGenI	rs587776580
Biobank	rs587776580
1000 genomes	rs587776580
hgdp	rs587776580
ensembl	rs587776580
geneview	rs587776580
scholar	rs587776580
google	rs587776580
pharmgkb	rs587776580
gwascentral	rs587776580
openSNP	rs587776580
23andMe	rs587776580
SNPshot	rs587776580
SNPdbe	rs587776580
MSV3d	rs587776580
GWAS Ctlg	rs587776580

Max Magnitude

5

ClinVar
Risk	rs587776580(A;A)
Alt	rs587776580(A;A)
Reference	Rs587776580(-;-)
Significance	Pathogenic
Disease	Treacher Collins syndrome 1
Variation	info
Gene	TCOF1
CLNDBN	Treacher Collins syndrome 1
Reversed	0
HGVS	NC_000005.9:g.149748322dupA
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000004167.4,