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rs75971463

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs75971463(A;C)
Make rs75971463(C;C)
ReferenceGRCh38 38.1/141
Chromosome13
Position50943369
GeneRNASEH2B
is asnp
is mentioned by
dbSNPrs75971463
ebirs75971463
HLIrs75971463
Exacrs75971463
Varsomers75971463
Maprs75971463
PheGenIrs75971463
hapmaprs75971463
1000 genomesrs75971463
hgdprs75971463
ensemblrs75971463
gopubmedrs75971463
geneviewrs75971463
scholarrs75971463
googlers75971463
pharmgkbrs75971463
gwascentralrs75971463
openSNPrs75971463
23andMers75971463
23andMe allrs75971463
SNP Nexus

SNPshotrs75971463
SNPdbers75971463
MSV3drs75971463
GWAS Ctlgrs75971463
Max Magnitude0
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