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rs63750607

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs63750607(A;A)
Make rs63750607(A;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position16161463
GeneABCC6
is asnp
is mentioned by
dbSNPrs63750607
ebirs63750607
HLIrs63750607
Exacrs63750607
Varsomers63750607
Maprs63750607
PheGenIrs63750607
hapmaprs63750607
1000 genomesrs63750607
hgdprs63750607
ensemblrs63750607
gopubmedrs63750607
geneviewrs63750607
scholarrs63750607
googlers63750607
pharmgkbrs63750607
gwascentralrs63750607
openSNPrs63750607
23andMers63750607
23andMe allrs63750607
SNP Nexus

SNPshotrs63750607
SNPdbers63750607
MSV3drs63750607
GWAS Ctlgrs63750607
Max Magnitude0
ClinVar
Risk rs63750607(A;A)
Alt rs63750607(A;A)
Reference rs63750607(G;G)
Significance Untested
Disease
Variation info
Gene ABCC6
CLNDBN
Reversed 1
HGVS NC_000016.9:g.16255320C>T
CLNSRC
CLNACC



[PMID 11536079OA-icon.png] A spectrum of ABCC6 mutations is responsible for pseudoxanthoma elasticum.