Have questions? Visit https://www.reddit.com/r/SNPedia

rs63750608

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs63750608(C;C)
Make rs63750608(C;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position16154889
GeneABCC6
is asnp
is mentioned by
dbSNPrs63750608
ebirs63750608
HLIrs63750608
Exacrs63750608
Varsomers63750608
Maprs63750608
PheGenIrs63750608
hapmaprs63750608
1000 genomesrs63750608
hgdprs63750608
ensemblrs63750608
gopubmedrs63750608
geneviewrs63750608
scholarrs63750608
googlers63750608
pharmgkbrs63750608
gwascentralrs63750608
openSNPrs63750608
23andMers63750608
23andMe allrs63750608
SNP Nexus

SNPshotrs63750608
SNPdbers63750608
MSV3drs63750608
GWAS Ctlgrs63750608
Max Magnitude0
ClinVar
Risk rs63750608(C;C)
Alt rs63750608(C;C)
Reference rs63750608(T;T)
Significance Untested
Disease
Variation info
Gene ABCC6
CLNDBN
Reversed 1
HGVS NC_000016.9:g.16248746A>G
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.