rs141156009

Orientation

plus

Stabilized

plus

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

Make rs141156009(C;T)

Make rs141156009(T;T)

Reference

GRCh38 38.1/141

Chromosome

6

Position

43520961

Gene

POLR1C

is a	snp
is	mentioned by
dbSNP	rs141156009
dbSNP (classic)	rs141156009
ClinGen	rs141156009
ebi	rs141156009
HLI	rs141156009
Exac	rs141156009
Gnomad	rs141156009
Varsome	rs141156009
LitVar	rs141156009
Map	rs141156009
PheGenI	rs141156009
Biobank	rs141156009
1000 genomes	rs141156009
hgdp	rs141156009
ensembl	rs141156009
geneview	rs141156009
scholar	rs141156009
google	rs141156009
pharmgkb	rs141156009
gwascentral	rs141156009
openSNP	rs141156009
23andMe	rs141156009
SNPshot	rs141156009
SNPdbe	rs141156009
MSV3d	rs141156009
GWAS Ctlg	rs141156009

Max Magnitude

0

ClinVar
Risk	rs141156009(T;T)
Alt	rs141156009(T;T)
Reference	Rs141156009(C;C)
Significance	Pathogenic
Disease	Mandibulofacial dysostosis not provided
Variation	info
Gene	POLR1C
CLNDBN	Mandibulofacial dysostosis, Treacher Collins type, autosomal recessive not provided
Reversed	0
HGVS	NC_000006.11:g.43488699C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000023800.3, RCV000382254.2,