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rs63749796

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs63749796(C;C)
Make rs63749796(C;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position16159505
GeneABCC6
is asnp
is mentioned by
dbSNPrs63749796
ebirs63749796
HLIrs63749796
Exacrs63749796
Varsomers63749796
Maprs63749796
PheGenIrs63749796
hapmaprs63749796
1000 genomesrs63749796
hgdprs63749796
ensemblrs63749796
gopubmedrs63749796
geneviewrs63749796
scholarrs63749796
googlers63749796
pharmgkbrs63749796
gwascentralrs63749796
openSNPrs63749796
23andMers63749796
23andMe allrs63749796
SNP Nexus

SNPshotrs63749796
SNPdbers63749796
MSV3drs63749796
GWAS Ctlgrs63749796
Max Magnitude0
OMIM603234
Desc
Variant0022
Relatedalso


ClinVar
Risk rs63749796(C;C)
Alt rs63749796(C;C)
Reference rs63749796(G;G)
Significance Pathogenic
Disease Pseudoxanthoma elasticum
Variation info
Gene ABCC6
CLNDBN Pseudoxanthoma elasticum
Reversed 1
HGVS NC_000016.9:g.16253362C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000006959.3,



[PMID 15086542] Novel ABCC6 mutations in pseudoxanthoma elasticum.