rs797046037

Orientation

plus

Stabilized

plus

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

Make rs797046037(-;-)

Make rs797046037(CA;CA)

Reference

GRCh38.p2 38.2/146

Chromosome

5

Position

150368723

Gene

TCOF1

is a	snp
is	mentioned by
dbSNP	rs797046037
dbSNP (classic)	rs797046037
ClinGen	rs797046037
ebi	rs797046037
HLI	rs797046037
Exac	rs797046037
Gnomad	rs797046037
Varsome	rs797046037
LitVar	rs797046037
Map	rs797046037
PheGenI	rs797046037
Biobank	rs797046037
1000 genomes	rs797046037
hgdp	rs797046037
ensembl	rs797046037
geneview	rs797046037
scholar	rs797046037
google	rs797046037
pharmgkb	rs797046037
gwascentral	rs797046037
openSNP	rs797046037
23andMe	rs797046037
SNPshot	rs797046037
SNPdbe	rs797046037
MSV3d	rs797046037
GWAS Ctlg	rs797046037

Max Magnitude

5

ClinVar
Risk	rs797046037(-;-)
Alt	rs797046037(-;-)
Reference	Rs797046037(AC;AC)
Significance	Pathogenic
Disease	Treacher Collins syndrome 1
Variation	info
Gene	TCOF1
CLNDBN	Treacher Collins syndrome 1
Reversed	0
HGVS	NC_000005.9:g.149748286_149748287delCA
CLNSRC
CLNACC	RCV000192389.1,