rs775141057

Orientation

plus

Stabilized

plus

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

Make rs775141057(C;T)

Make rs775141057(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

12

Position

106496115

Gene	LOC100287944, POLR3B

is a	snp
is	mentioned by
dbSNP	rs775141057
dbSNP (classic)	rs775141057
ClinGen	rs775141057
ebi	rs775141057
HLI	rs775141057
Exac	rs775141057
Gnomad	rs775141057
Varsome	rs775141057
LitVar	rs775141057
Map	rs775141057
PheGenI	rs775141057
Biobank	rs775141057
1000 genomes	rs775141057
hgdp	rs775141057
ensembl	rs775141057
geneview	rs775141057
scholar	rs775141057
google	rs775141057
pharmgkb	rs775141057
gwascentral	rs775141057
openSNP	rs775141057
23andMe	rs775141057
SNPshot	rs775141057
SNPdbe	rs775141057
MSV3d	rs775141057
GWAS Ctlg	rs775141057

Max Magnitude

0

ClinVar
Risk	rs775141057(T;T)
Alt	rs775141057(T;T)
Reference	Rs775141057(C;C)
Significance	Pathogenic
Disease	Cerebellar hypoplasia with endosteal sclerosis
Variation	info
Gene	LOC100287944 POLR3B
CLNDBN	Cerebellar hypoplasia with endosteal sclerosis
Reversed	0
HGVS	NC_000012.11:g.106889893C>T
CLNSRC
CLNACC	RCV000477761.1,