rs533778281

Orientation

plus

Stabilized

plus

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

Make rs533778281(C;C)

Make rs533778281(C;G)

Reference

GRCh38.p2 38.2/144

Chromosome

22

Position

38016774

Gene

POLR2F

is a	snp
is	mentioned by
dbSNP	rs533778281
dbSNP (classic)	rs533778281
ClinGen	rs533778281
ebi	rs533778281
HLI	rs533778281
Exac	rs533778281
Gnomad	rs533778281
Varsome	rs533778281
LitVar	rs533778281
Map	rs533778281
PheGenI	rs533778281
Biobank	rs533778281
1000 genomes	rs533778281
hgdp	rs533778281
ensembl	rs533778281
geneview	rs533778281
scholar	rs533778281
google	rs533778281
pharmgkb	rs533778281
gwascentral	rs533778281
openSNP	rs533778281
23andMe	rs533778281
SNPshot	rs533778281
SNPdbe	rs533778281
MSV3d	rs533778281
GWAS Ctlg	rs533778281

Merged from

Rs606231341

Max Magnitude

0

ClinVar
Risk	rs533778281(C;C)
Alt	rs533778281(C;C)
Reference	Rs533778281(G;G)
Significance	Probable-Pathogenic
Disease	Hirschsprung disease 1
Variation	info
Gene	LOC101927099 POLR2F
CLNDBN	Hirschsprung disease 1
Reversed	0
HGVS	NC_000022.10:g.38412781G>C
CLNSRC
CLNACC	RCV000144843.1,