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rs267607027

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs267607027(C;T)
Make rs267607027(T;T)
ReferenceGRCh38 38.1/141
Chromosome20
Position36935048
GeneSAMHD1
is asnp
is mentioned by
dbSNPrs267607027
ebirs267607027
HLIrs267607027
Exacrs267607027
Varsomers267607027
Maprs267607027
PheGenIrs267607027
hapmaprs267607027
1000 genomesrs267607027
hgdprs267607027
ensemblrs267607027
gopubmedrs267607027
geneviewrs267607027
scholarrs267607027
googlers267607027
pharmgkbrs267607027
gwascentralrs267607027
openSNPrs267607027
23andMers267607027
23andMe allrs267607027
SNP Nexus

SNPshotrs267607027
SNPdbers267607027
MSV3drs267607027
GWAS Ctlgrs267607027
Max Magnitude0
ClinVar
Risk rs267607027(T;T)
Alt rs267607027(T;T)
Reference rs267607027(C;C)
Significance Pathogenic
Disease Aicardi Goutieres syndrome 5
Variation info
Gene SAMHD1
CLNDBN Aicardi Goutieres syndrome 5
Reversed 1
HGVS NC_000020.10:g.35563451G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000004284.3,