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rs63750700

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs63750700(A;A)
Make rs63750700(A;C)
ReferenceGRCh38 38.1/141
Chromosome16
Position16150772
GeneABCC6
is asnp
is mentioned by
dbSNPrs63750700
dbSNP (classic)rs63750700
ClinGenrs63750700
ebirs63750700
HLIrs63750700
Exacrs63750700
Gnomadrs63750700
Varsomers63750700
LitVarrs63750700
Maprs63750700
PheGenIrs63750700
Biobankrs63750700
1000 genomesrs63750700
hgdprs63750700
ensemblrs63750700
geneviewrs63750700
scholarrs63750700
googlers63750700
pharmgkbrs63750700
gwascentralrs63750700
openSNPrs63750700
23andMers63750700
SNPshotrs63750700
SNPdbers63750700
MSV3drs63750700
GWAS Ctlgrs63750700
Max Magnitude0
ClinVar
Risk rs63750700(A;A)
Alt rs63750700(A;A)
Reference Rs63750700(C;C)
Significance Untested
Disease
Variation info
Gene ABCC6
CLNDBN
Reversed 1
HGVS NC_000016.9:g.16244629G>T
CLNSRC
CLNACC


[PMID 15723264] New ABCC6 gene mutations in German pseudoxanthoma elasticum patients.