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rs63749992

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs63749992(C;C)
Make rs63749992(C;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position16159502
GeneABCC6
is asnp
is mentioned by
dbSNPrs63749992
ebirs63749992
HLIrs63749992
Exacrs63749992
Varsomers63749992
Maprs63749992
PheGenIrs63749992
hapmaprs63749992
1000 genomesrs63749992
hgdprs63749992
ensemblrs63749992
gopubmedrs63749992
geneviewrs63749992
scholarrs63749992
googlers63749992
pharmgkbrs63749992
gwascentralrs63749992
openSNPrs63749992
23andMers63749992
23andMe allrs63749992
SNP Nexus

SNPshotrs63749992
SNPdbers63749992
MSV3drs63749992
GWAS Ctlgrs63749992
Max Magnitude0
ClinVar
Risk rs63749992(C;C)
Alt rs63749992(C;C)
Reference rs63749992(T;T)
Significance Untested
Disease
Variation info
Gene ABCC6
CLNDBN
Reversed 1
HGVS NC_000016.9:g.16253359A>G
CLNSRC
CLNACC



[PMID 16392638] Novel mutations in the ABCC6 gene of German patients with pseudoxanthoma elasticum.