rs875989814

Orientation

minus

Stabilized

minus

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

Make rs875989814(-;-)

Make rs875989814(-;C)

Reference

GRCh38.p2 38.2/147

Chromosome

2

Position

86040483

Gene

POLR1A

is a	snp
is	mentioned by
dbSNP	rs875989814
dbSNP (classic)	rs875989814
ClinGen	rs875989814
ebi	rs875989814
HLI	rs875989814
Exac	rs875989814
Gnomad	rs875989814
Varsome	rs875989814
LitVar	rs875989814
Map	rs875989814
PheGenI	rs875989814
Biobank	rs875989814
1000 genomes	rs875989814
hgdp	rs875989814
ensembl	rs875989814
geneview	rs875989814
scholar	rs875989814
google	rs875989814
pharmgkb	rs875989814
gwascentral	rs875989814
openSNP	rs875989814
23andMe	rs875989814
SNPshot	rs875989814
SNPdbe	rs875989814
MSV3d	rs875989814
GWAS Ctlg	rs875989814

Max Magnitude

0

ClinVar
Risk	rs875989814(-;-)
Alt	rs875989814(-;-)
Reference	Rs875989814(C;C)
Significance	Pathogenic
Disease	Acrofacial dysostosis
Variation	info
Gene	POLR1A
CLNDBN	Acrofacial dysostosis, Cincinnati type
Reversed	1
HGVS	NC_000002.11:g.86267606delG
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000185619.2,