rs387907020

Orientation

plus

Stabilized

plus

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

Make rs387907020(A;T)

Make rs387907020(T;T)

Reference

GRCh38 38.1/141

Chromosome

6

Position

43521238

Gene

POLR1C

is a	snp
is	mentioned by
dbSNP	rs387907020
dbSNP (classic)	rs387907020
ClinGen	rs387907020
ebi	rs387907020
HLI	rs387907020
Exac	rs387907020
Gnomad	rs387907020
Varsome	rs387907020
LitVar	rs387907020
Map	rs387907020
PheGenI	rs387907020
Biobank	rs387907020
1000 genomes	rs387907020
hgdp	rs387907020
ensembl	rs387907020
geneview	rs387907020
scholar	rs387907020
google	rs387907020
pharmgkb	rs387907020
gwascentral	rs387907020
openSNP	rs387907020
23andMe	rs387907020
SNPshot	rs387907020
SNPdbe	rs387907020
MSV3d	rs387907020
GWAS Ctlg	rs387907020

Max Magnitude

0

ClinVar
Risk	rs387907020(T;T)
Alt	rs387907020(T;T)
Reference	Rs387907020(A;A)
Significance	Pathogenic
Disease	Mandibulofacial dysostosis
Variation	info
Gene	POLR1C
CLNDBN	Mandibulofacial dysostosis, Treacher Collins type, autosomal recessive
Reversed	0
HGVS	NC_000006.11:g.43488976A>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000023798.3,