rs606231341

Merged into

rs533778281

Orientation

plus

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

Make rs606231341(C;C)

Make rs606231341(C;G)

Reference

GRCh38.p2 38.2/147

Chromosome

22

Position

38016774

Gene	LOC105373026, POLR2F

is a	snp
is	mentioned by
dbSNP	rs606231341
dbSNP (classic)	rs606231341
ClinGen	rs606231341
ebi	rs606231341
HLI	rs606231341
Exac	rs606231341
Gnomad	rs606231341
Varsome	rs606231341
LitVar	rs606231341
Map	rs606231341
PheGenI	rs606231341
Biobank	rs606231341
1000 genomes	rs606231341
hgdp	rs606231341
ensembl	rs606231341
geneview	rs606231341
scholar	rs606231341
google	rs606231341
pharmgkb	rs606231341
gwascentral	rs606231341
openSNP	rs606231341
23andMe	rs606231341
SNPshot	rs606231341
SNPdbe	rs606231341
MSV3d	rs606231341
GWAS Ctlg	rs606231341

Status

Merged into rs533778281

Max Magnitude

0

ClinVar
Risk	rs606231341(C;C)
Alt	rs606231341(C;C)
Reference	Rs606231341(G;G)
Significance	Probable-Pathogenic
Disease	Hirschsprung disease 1
Variation	info
Gene	POLR2F
CLNDBN	Hirschsprung disease 1
Reversed	0
HGVS	NC_000022.11:g.38016774G>C
CLNSRC	ClinVar
CLNACC	RCV000144843.1,