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rs63751112

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs63751112(C;T)
Make rs63751112(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position16154878
GeneABCC6
is asnp
is mentioned by
dbSNPrs63751112
ebirs63751112
HLIrs63751112
Exacrs63751112
Varsomers63751112
Maprs63751112
PheGenIrs63751112
hapmaprs63751112
1000 genomesrs63751112
hgdprs63751112
ensemblrs63751112
gopubmedrs63751112
geneviewrs63751112
scholarrs63751112
googlers63751112
pharmgkbrs63751112
gwascentralrs63751112
openSNPrs63751112
23andMers63751112
23andMe allrs63751112
SNP Nexus

SNPshotrs63751112
SNPdbers63751112
MSV3drs63751112
GWAS Ctlgrs63751112
Max Magnitude0
ClinVar
Risk rs63751112(T;T)
Alt rs63751112(T;T)
Reference rs63751112(C;C)
Significance Untested
Disease
Variation info
Gene ABCC6
CLNDBN
Reversed 1
HGVS NC_000016.9:g.16248735G>A
CLNSRC
CLNACC



[PMID 15459974] ABCC6 mutations in Italian families affected by pseudoxanthoma elasticum (PXE).