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rs63750759

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs63750759(C;T)
Make rs63750759(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position16154974
GeneABCC6
is asnp
is mentioned by
dbSNPrs63750759
ebirs63750759
HLIrs63750759
Exacrs63750759
Varsomers63750759
Maprs63750759
PheGenIrs63750759
hapmaprs63750759
1000 genomesrs63750759
hgdprs63750759
ensemblrs63750759
gopubmedrs63750759
geneviewrs63750759
scholarrs63750759
googlers63750759
pharmgkbrs63750759
gwascentralrs63750759
openSNPrs63750759
23andMers63750759
23andMe allrs63750759
SNP Nexus

SNPshotrs63750759
SNPdbers63750759
MSV3drs63750759
GWAS Ctlgrs63750759
Max Magnitude0
OMIM603234
Desc
Variant0006
Relatedalso


ClinVar
Risk rs63750759(T;T)
Alt rs63750759(T;T)
Reference rs63750759(C;C)
Significance Pathogenic
Disease Pseudoxanthoma elasticum Generalized arterial calcification of infancy 2
Variation info
Gene ABCC6
CLNDBN Pseudoxanthoma elasticum Generalized arterial calcification of infancy 2
Reversed 1
HGVS NC_000016.9:g.16248831G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000006942.4, RCV000023273.4,



[PMID 10835642] Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum.