rs74555752

Orientation

plus

Stabilized

plus

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

Make rs74555752(G;G)

Make rs74555752(G;T)

Reference

GRCh38 38.1/141

Chromosome

13

Position

50945470

Gene

RNASEH2B

is a	snp
is	mentioned by
dbSNP	rs74555752
dbSNP (classic)	rs74555752
ClinGen	rs74555752
ebi	rs74555752
HLI	rs74555752
Exac	rs74555752
Gnomad	rs74555752
Varsome	rs74555752
LitVar	rs74555752
Map	rs74555752
PheGenI	rs74555752
Biobank	rs74555752
1000 genomes	rs74555752
hgdp	rs74555752
ensembl	rs74555752
geneview	rs74555752
scholar	rs74555752
google	rs74555752
pharmgkb	rs74555752
gwascentral	rs74555752
openSNP	rs74555752
23andMe	rs74555752
SNPshot	rs74555752
SNPdbe	rs74555752
MSV3d	rs74555752
GWAS Ctlg	rs74555752

Max Magnitude

0

OMIM	610326
Desc
Variant	0002
Related	also

ClinVar
Risk	rs74555752(G;G)
Alt	rs74555752(G;G)
Reference	Rs74555752(T;T)
Significance	Pathogenic
Disease	Aicardi Goutieres syndrome 2
Variation	info
Gene	RNASEH2B
CLNDBN	Aicardi Goutieres syndrome 2
Reversed	0
HGVS	NC_000013.10:g.51519606T>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000001325.4,

[PMID 16845400] Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutieres syndrome and mimic congenital viral brain infection.