rs75184679

Orientation

plus

Stabilized

plus

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

Make rs75184679(A;A)

Make rs75184679(A;G)

Reference

GRCh38 38.1/141

Chromosome

13

Position

50945445

Gene

RNASEH2B

is a	snp
is	mentioned by
dbSNP	rs75184679
dbSNP (classic)	rs75184679
ClinGen	rs75184679
ebi	rs75184679
HLI	rs75184679
Exac	rs75184679
Gnomad	rs75184679
Varsome	rs75184679
LitVar	rs75184679
Map	rs75184679
PheGenI	rs75184679
Biobank	rs75184679
1000 genomes	rs75184679
hgdp	rs75184679
ensembl	rs75184679
geneview	rs75184679
scholar	rs75184679
google	rs75184679
pharmgkb	rs75184679
gwascentral	rs75184679
openSNP	rs75184679
23andMe	rs75184679
SNPshot	rs75184679
SNPdbe	rs75184679
MSV3d	rs75184679
GWAS Ctlg	rs75184679

Max Magnitude

0

OMIM	610326
Desc
Variant	0001
Related	also

ClinVar
Risk	rs75184679(A;A)
Alt	rs75184679(A;A)
Reference	Rs75184679(G;G)
Significance	Pathogenic
Disease	Aicardi Goutieres syndrome 2 not provided Aicardi Goutieres syndrome
Variation	info
Gene	RNASEH2B
CLNDBN	Aicardi Goutieres syndrome 2 not provided Aicardi Goutieres syndrome
Reversed	0
HGVS	NC_000013.10:g.51519581G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000001324.5, RCV000274058.1, RCV000343151.1,

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