rs75971463

Orientation

plus

Stabilized

plus

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

Make rs75971463(A;C)

Make rs75971463(C;C)

Reference

GRCh38 38.1/141

Chromosome

13

Position

50943369

Gene

RNASEH2B

is a	snp
is	mentioned by
dbSNP	rs75971463
dbSNP (classic)	rs75971463
ClinGen	rs75971463
ebi	rs75971463
HLI	rs75971463
Exac	rs75971463
Gnomad	rs75971463
Varsome	rs75971463
LitVar	rs75971463
Map	rs75971463
PheGenI	rs75971463
Biobank	rs75971463
1000 genomes	rs75971463
hgdp	rs75971463
ensembl	rs75971463
geneview	rs75971463
scholar	rs75971463
google	rs75971463
pharmgkb	rs75971463
gwascentral	rs75971463
openSNP	rs75971463
23andMe	rs75971463
SNPshot	rs75971463
SNPdbe	rs75971463
MSV3d	rs75971463
GWAS Ctlg	rs75971463

Max Magnitude

0

ClinVar
Risk	rs75971463(C;C)
Alt	rs75971463(C;C)
Reference	Rs75971463(A;A)
Significance	Pathogenic
Disease	Aicardi Goutieres syndrome 2
Variation	info
Gene	RNASEH2B
CLNDBN	Aicardi Goutieres syndrome 2
Reversed	0
HGVS	NC_000013.10:g.51517505A>C
CLNSRC
CLNACC