rs606231342

Orientation

plus

Stabilized

plus

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

Make rs606231342(A;A)

Make rs606231342(A;G)

Reference

GRCh38.p2 38.2/146

Chromosome

22

Position

38016208

Gene

POLR2F

is a	snp
is	mentioned by
dbSNP	rs606231342
dbSNP (classic)	rs606231342
ClinGen	rs606231342
ebi	rs606231342
HLI	rs606231342
Exac	rs606231342
Gnomad	rs606231342
Varsome	rs606231342
LitVar	rs606231342
Map	rs606231342
PheGenI	rs606231342
Biobank	rs606231342
1000 genomes	rs606231342
hgdp	rs606231342
ensembl	rs606231342
geneview	rs606231342
scholar	rs606231342
google	rs606231342
pharmgkb	rs606231342
gwascentral	rs606231342
openSNP	rs606231342
23andMe	rs606231342
SNPshot	rs606231342
SNPdbe	rs606231342
MSV3d	rs606231342
GWAS Ctlg	rs606231342

Max Magnitude

0

ClinVar
Risk	rs606231342(A;A)
Alt	rs606231342(A;A)
Reference	Rs606231342(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.38412215G>A
CLNSRC	ClinVar
CLNACC	RCV000144844.1,