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rs63751318

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs63751318(C;C)
Make rs63751318(C;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position16154995
GeneABCC6
is asnp
is mentioned by
dbSNPrs63751318
dbSNP (classic)rs63751318
ClinGenrs63751318
ebirs63751318
HLIrs63751318
Exacrs63751318
Gnomadrs63751318
Varsomers63751318
LitVarrs63751318
Maprs63751318
PheGenIrs63751318
Biobankrs63751318
1000 genomesrs63751318
hgdprs63751318
ensemblrs63751318
geneviewrs63751318
scholarrs63751318
googlers63751318
pharmgkbrs63751318
gwascentralrs63751318
openSNPrs63751318
23andMers63751318
SNPshotrs63751318
SNPdbers63751318
MSV3drs63751318
GWAS Ctlgrs63751318
Max Magnitude0
ClinVar
Risk rs63751318(C;C)
Alt rs63751318(C;C)
Reference Rs63751318(T;T)
Significance Untested
Disease
Variation info
Gene ABCC6
CLNDBN
Reversed 1
HGVS NC_000016.9:g.16248852A>G
CLNSRC
CLNACC



[PMID 15894595OA-icon.png] Pseudoxanthoma elasticum: a clinical, pathophysiological and genetic update including 11 novel ABCC6 mutations.