rs75146158

Orientation

minus

Stabilized

minus

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

Make rs75146158(A;T)

Make rs75146158(T;T)

Reference

GRCh38 38.1/141

Chromosome

11

Position

65720085

Gene	KAT5, RNASEH2C

is a	snp
is	mentioned by
dbSNP	rs75146158
dbSNP (classic)	rs75146158
ClinGen	rs75146158
ebi	rs75146158
HLI	rs75146158
Exac	rs75146158
Gnomad	rs75146158
Varsome	rs75146158
LitVar	rs75146158
Map	rs75146158
PheGenI	rs75146158
Biobank	rs75146158
1000 genomes	rs75146158
hgdp	rs75146158
ensembl	rs75146158
geneview	rs75146158
scholar	rs75146158
google	rs75146158
pharmgkb	rs75146158
gwascentral	rs75146158
openSNP	rs75146158
23andMe	rs75146158
SNPshot	rs75146158
SNPdbe	rs75146158
MSV3d	rs75146158
GWAS Ctlg	rs75146158

Max Magnitude

0

OMIM	610330
Desc
Variant	0002
Related	also

ClinVar
Risk	rs75146158(T;T)
Alt	rs75146158(T;T)
Reference	Rs75146158(A;A)
Significance	Pathogenic
Disease	Aicardi Goutieres syndrome 3
Variation	info
Gene	KAT5 RNASEH2C
CLNDBN	Aicardi Goutieres syndrome 3
Reversed	1
HGVS	NC_000011.9:g.65487556T>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000001323.4,

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