rs119470016

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar

Make rs119470016(T;T)

Reference

GRCh38 38.1/141

Chromosome

5

Position

150374288

Gene

TCOF1

is a	snp
is	mentioned by
dbSNP	rs119470016
dbSNP (classic)	rs119470016
ClinGen	rs119470016
ebi	rs119470016
HLI	rs119470016
Exac	rs119470016
Gnomad	rs119470016
Varsome	rs119470016
LitVar	rs119470016
Map	rs119470016
PheGenI	rs119470016
Biobank	rs119470016
1000 genomes	rs119470016
hgdp	rs119470016
ensembl	rs119470016
geneview	rs119470016
scholar	rs119470016
google	rs119470016
pharmgkb	rs119470016
gwascentral	rs119470016
openSNP	rs119470016
23andMe	rs119470016
SNPshot	rs119470016
SNPdbe	rs119470016
MSV3d	rs119470016
GWAS Ctlg	rs119470016

Max Magnitude

0

aka c.754C>T (p.Gln252Ter)

OMIM	606847
Desc
Variant	0001
Related	also

ClinVar
Risk	rs119470016(T;T)
Alt	rs119470016(T;T)
Reference	Rs119470016(C;C)
Significance	Pathogenic
Disease	Treacher Collins syndrome 1
Variation	info
Gene	TCOF1
CLNDBN	Treacher Collins syndrome 1
Reversed	0
HGVS	NC_000005.9:g.149753851C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000004166.4,