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rs869312979

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs869312979(A;G)
Make rs869312979(G;G)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position24726579
GenePOLA1
is asnp
is mentioned by
dbSNPrs869312979
ebirs869312979
HLIrs869312979
Exacrs869312979
Varsomers869312979
Maprs869312979
PheGenIrs869312979
hapmaprs869312979
1000 genomesrs869312979
hgdprs869312979
ensemblrs869312979
gopubmedrs869312979
geneviewrs869312979
scholarrs869312979
googlers869312979
pharmgkbrs869312979
gwascentralrs869312979
openSNPrs869312979
23andMers869312979
23andMe allrs869312979
SNP Nexus

SNPshotrs869312979
SNPdbers869312979
MSV3drs869312979
GWAS Ctlgrs869312979
Max Magnitude0
ClinVar
Risk rs869312979(G;G)
Alt rs869312979(G;G)
Reference rs869312979(A;A)
Significance Pathogenic
Disease Pigmentary disorder
Variation info
Gene POLA1
CLNDBN Pigmentary disorder, reticulate, with systemic manifestations, X-linked
Reversed 0
HGVS NC_000023.10:g.24744696A>G
CLNSRC
CLNACC RCV000210684.1,