rs191582628

Orientation

plus

Stabilized

plus

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

Make rs191582628(A;A)

Make rs191582628(A;G)

Reference

GRCh38 38.1/141

Chromosome

6

Position

43520962

Gene

POLR1C

is a	snp
is	mentioned by
dbSNP	rs191582628
dbSNP (classic)	rs191582628
ClinGen	rs191582628
ebi	rs191582628
HLI	rs191582628
Exac	rs191582628
Gnomad	rs191582628
Varsome	rs191582628
LitVar	rs191582628
Map	rs191582628
PheGenI	rs191582628
Biobank	rs191582628
1000 genomes	rs191582628
hgdp	rs191582628
ensembl	rs191582628
geneview	rs191582628
scholar	rs191582628
google	rs191582628
pharmgkb	rs191582628
gwascentral	rs191582628
openSNP	rs191582628
23andMe	rs191582628
SNPshot	rs191582628
SNPdbe	rs191582628
MSV3d	rs191582628
GWAS Ctlg	rs191582628

GMAF

0.0004591

Max Magnitude

0

ClinVar
Risk	rs191582628(A;A)
Alt	rs191582628(A;A)
Reference	Rs191582628(G;G)
Significance	Pathogenic
Disease	Mandibulofacial dysostosis Treacher Collins Syndrome
Variation	info
Gene	POLR1C
CLNDBN	Mandibulofacial dysostosis, Treacher Collins type, autosomal recessive Treacher Collins Syndrome, Recessive
Reversed	0
HGVS	NC_000006.11:g.43488700G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000023796.2, RCV000266207.1,