rs79310911

Orientation

plus

Stabilized

plus

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

Make rs79310911(C;T)

Make rs79310911(T;T)

Reference

GRCh38 38.1/141

Chromosome

13

Position

50943372

Gene

RNASEH2B

is a	snp
is	mentioned by
dbSNP	rs79310911
dbSNP (classic)	rs79310911
ClinGen	rs79310911
ebi	rs79310911
HLI	rs79310911
Exac	rs79310911
Gnomad	rs79310911
Varsome	rs79310911
LitVar	rs79310911
Map	rs79310911
PheGenI	rs79310911
Biobank	rs79310911
1000 genomes	rs79310911
hgdp	rs79310911
ensembl	rs79310911
geneview	rs79310911
scholar	rs79310911
google	rs79310911
pharmgkb	rs79310911
gwascentral	rs79310911
openSNP	rs79310911
23andMe	rs79310911
SNPshot	rs79310911
SNPdbe	rs79310911
MSV3d	rs79310911
GWAS Ctlg	rs79310911

Max Magnitude

0

ClinVar
Risk	rs79310911(T;T)
Alt	rs79310911(T;T)
Reference	Rs79310911(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.51517508C>T
CLNSRC
CLNACC