rs76219783

Orientation

plus

Stabilized

plus

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

Make rs76219783(G;T)

Make rs76219783(T;T)

Reference

GRCh38 38.1/141

Chromosome

13

Position

50943360

Gene

RNASEH2B

is a	snp
is	mentioned by
dbSNP	rs76219783
dbSNP (classic)	rs76219783
ClinGen	rs76219783
ebi	rs76219783
HLI	rs76219783
Exac	rs76219783
Gnomad	rs76219783
Varsome	rs76219783
LitVar	rs76219783
Map	rs76219783
PheGenI	rs76219783
Biobank	rs76219783
1000 genomes	rs76219783
hgdp	rs76219783
ensembl	rs76219783
geneview	rs76219783
scholar	rs76219783
google	rs76219783
pharmgkb	rs76219783
gwascentral	rs76219783
openSNP	rs76219783
23andMe	rs76219783
SNPshot	rs76219783
SNPdbe	rs76219783
MSV3d	rs76219783
GWAS Ctlg	rs76219783

Max Magnitude

0

ClinVar
Risk	rs76219783(T;T)
Alt	rs76219783(T;T)
Reference	Rs76219783(G;G)
Significance	Pathogenic
Disease	Aicardi Goutieres syndrome 2
Variation	info
Gene	RNASEH2B
CLNDBN	Aicardi Goutieres syndrome 2
Reversed	0
HGVS	NC_000013.10:g.51517496G>T
CLNSRC
CLNACC