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rs63749794

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs63749794(C;T)
Make rs63749794(T;T)
ReferenceGRCh38 38.1/142
Chromosome16
Position16163159
GeneABCC6
is asnp
is mentioned by
dbSNPrs63749794
ebirs63749794
HLIrs63749794
Exacrs63749794
Varsomers63749794
Maprs63749794
PheGenIrs63749794
hapmaprs63749794
1000 genomesrs63749794
hgdprs63749794
ensemblrs63749794
gopubmedrs63749794
geneviewrs63749794
scholarrs63749794
googlers63749794
pharmgkbrs63749794
gwascentralrs63749794
openSNPrs63749794
23andMers63749794
23andMe allrs63749794
SNP Nexus

SNPshotrs63749794
SNPdbers63749794
MSV3drs63749794
GWAS Ctlgrs63749794
Max Magnitude0
ClinVar
Risk rs63749794(T;T)
Alt rs63749794(T;T)
Reference rs63749794(C;C)
Significance Untested
Disease
Variation info
Gene ABCC6
CLNDBN
Reversed 1
HGVS NC_000016.9:g.16257016G>A
CLNSRC
CLNACC



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