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rs63750622

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs63750622(G;T)
Make rs63750622(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position16154898
GeneABCC6
is asnp
is mentioned by
dbSNPrs63750622
ebirs63750622
HLIrs63750622
Exacrs63750622
Varsomers63750622
Maprs63750622
PheGenIrs63750622
hapmaprs63750622
1000 genomesrs63750622
hgdprs63750622
ensemblrs63750622
gopubmedrs63750622
geneviewrs63750622
scholarrs63750622
googlers63750622
pharmgkbrs63750622
gwascentralrs63750622
openSNPrs63750622
23andMers63750622
23andMe allrs63750622
SNP Nexus

SNPshotrs63750622
SNPdbers63750622
MSV3drs63750622
GWAS Ctlgrs63750622
Max Magnitude0
ClinVar
Risk rs63750622(A,T;A,T)
Alt rs63750622(A,T;A,T)
Reference rs63750622(G;G)
Significance Untested
Disease
Variation info
Gene ABCC6
CLNDBN
Reversed 1
HGVS NC_000016.9:g.16248755C>A; NC_000016.9:g.16248755C>T
CLNSRC
CLNACC


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


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