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rs17222547

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs17222547(A;A)
Make rs17222547(A;C)
ReferenceGRCh38.p2 38.2/146
Chromosome10
Position99831628
GeneABCC2
is asnp
is mentioned by
dbSNPrs17222547
dbSNP (classic)rs17222547
ClinGenrs17222547
ebirs17222547
HLIrs17222547
Exacrs17222547
Gnomadrs17222547
Varsomers17222547
LitVarrs17222547
Maprs17222547
PheGenIrs17222547
Biobankrs17222547
1000 genomesrs17222547
hgdprs17222547
ensemblrs17222547
geneviewrs17222547
scholarrs17222547
googlers17222547
pharmgkbrs17222547
gwascentralrs17222547
openSNPrs17222547
23andMers17222547
SNPshotrs17222547
SNPdbers17222547
MSV3drs17222547
GWAS Ctlgrs17222547
Max Magnitude0
? (A;A) (A;C) (C;C) 28


ClinVar
Risk rs17222547(A;A)
Alt rs17222547(A;A)
Reference Rs17222547(C;C)
Significance Pathogenic
Disease Dubin-Johnson syndrome
Variation info
Gene ABCC2
CLNDBN Dubin-Johnson syndrome
Reversed 0
HGVS NC_000010.10:g.101591385C>A
CLNSRC
CLNACC RCV000176262.1,