rs75326546

Orientation

plus

Stabilized

plus

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

Make rs75326546(C;T)

Make rs75326546(T;T)

Reference

GRCh38 38.1/141

Chromosome

13

Position

50929510

Gene

RNASEH2B

is a	snp
is	mentioned by
dbSNP	rs75326546
dbSNP (classic)	rs75326546
ClinGen	rs75326546
ebi	rs75326546
HLI	rs75326546
Exac	rs75326546
Gnomad	rs75326546
Varsome	rs75326546
LitVar	rs75326546
Map	rs75326546
PheGenI	rs75326546
Biobank	rs75326546
1000 genomes	rs75326546
hgdp	rs75326546
ensembl	rs75326546
geneview	rs75326546
scholar	rs75326546
google	rs75326546
pharmgkb	rs75326546
gwascentral	rs75326546
openSNP	rs75326546
23andMe	rs75326546
SNPshot	rs75326546
SNPdbe	rs75326546
MSV3d	rs75326546
GWAS Ctlg	rs75326546

Max Magnitude

0

ClinVar
Risk	rs75326546(T;T)
Alt	rs75326546(T;T)
Reference	Rs75326546(C;C)
Significance	Pathogenic
Disease	Aicardi Goutieres syndrome 2
Variation	info
Gene	RNASEH2B
CLNDBN	Aicardi Goutieres syndrome 2
Reversed	0
HGVS	NC_000013.10:g.51503646C>T
CLNSRC
CLNACC