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rs63750992

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs63750992(A;A)
Make rs63750992(A;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position16154982
GeneABCC6
is asnp
is mentioned by
dbSNPrs63750992
ebirs63750992
HLIrs63750992
Exacrs63750992
Varsomers63750992
Maprs63750992
PheGenIrs63750992
hapmaprs63750992
1000 genomesrs63750992
hgdprs63750992
ensemblrs63750992
gopubmedrs63750992
geneviewrs63750992
scholarrs63750992
googlers63750992
pharmgkbrs63750992
gwascentralrs63750992
openSNPrs63750992
23andMers63750992
23andMe allrs63750992
SNP Nexus

SNPshotrs63750992
SNPdbers63750992
MSV3drs63750992
GWAS Ctlgrs63750992
Max Magnitude0
ClinVar
Risk rs63750992(A;A)
Alt rs63750992(A;A)
Reference rs63750992(G;G)
Significance Untested
Disease
Variation info
Gene ABCC6
CLNDBN
Reversed 1
HGVS NC_000016.9:g.16248839C>T
CLNSRC
CLNACC



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