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rs72650701

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs72650701(A;A)
Make rs72650701(A;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position16182497
GeneABCC6
is asnp
is mentioned by
dbSNPrs72650701
ebirs72650701
HLIrs72650701
Exacrs72650701
Varsomers72650701
Maprs72650701
PheGenIrs72650701
hapmaprs72650701
1000 genomesrs72650701
hgdprs72650701
ensemblrs72650701
gopubmedrs72650701
geneviewrs72650701
scholarrs72650701
googlers72650701
pharmgkbrs72650701
gwascentralrs72650701
openSNPrs72650701
23andMers72650701
23andMe allrs72650701
SNP Nexus

SNPshotrs72650701
SNPdbers72650701
MSV3drs72650701
GWAS Ctlgrs72650701
Max Magnitude0
ClinVar
Risk rs72650701(A;A)
Alt rs72650701(A;A)
Reference rs72650701(G;G)
Significance Untested
Disease
Variation info
Gene ABCC6
CLNDBN
Reversed 1
HGVS NC_000016.9:g.16276354C>T
CLNSRC
CLNACC



[PMID 16086317] Molecular genetics of pseudoxanthoma elasticum: type and frequency of mutations in ABCC6.