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rs63750874

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs63750874(A;A)
Make rs63750874(A;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position16150144
GeneABCC6
is asnp
is mentioned by
dbSNPrs63750874
ebirs63750874
HLIrs63750874
Exacrs63750874
Varsomers63750874
Maprs63750874
PheGenIrs63750874
hapmaprs63750874
1000 genomesrs63750874
hgdprs63750874
ensemblrs63750874
gopubmedrs63750874
geneviewrs63750874
scholarrs63750874
googlers63750874
pharmgkbrs63750874
gwascentralrs63750874
openSNPrs63750874
23andMers63750874
23andMe allrs63750874
SNP Nexus

SNPshotrs63750874
SNPdbers63750874
MSV3drs63750874
GWAS Ctlgrs63750874
Max Magnitude0
ClinVar
Risk rs63750874(A;A)
Alt rs63750874(A;A)
Reference rs63750874(G;G)
Significance Untested
Disease
Variation info
Gene ABCC6
CLNDBN
Reversed 1
HGVS NC_000016.9:g.16244001C>T
CLNSRC
CLNACC


[PMID 17617515OA-icon.png] Mutation detection in the ABCC6 gene and genotype-phenotype analysis in a large international case series affected by pseudoxanthoma elasticum.