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rs548728088

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs548728088(C;T)
Make rs548728088(T;T)
ReferenceGRCh38 38.1/142
Chromosome20
Position62952855
GeneSLC17A9
is asnp
is mentioned by
dbSNPrs548728088
ebirs548728088
HLIrs548728088
Exacrs548728088
Varsomers548728088
Maprs548728088
PheGenIrs548728088
hapmaprs548728088
1000 genomesrs548728088
hgdprs548728088
ensemblrs548728088
gopubmedrs548728088
geneviewrs548728088
scholarrs548728088
googlers548728088
pharmgkbrs548728088
gwascentralrs548728088
openSNPrs548728088
23andMers548728088
23andMe allrs548728088
SNP Nexus

SNPshotrs548728088
SNPdbers548728088
MSV3drs548728088
GWAS Ctlgrs548728088
Max Magnitude0
ClinVar
Risk rs548728088(T;T)
Alt rs548728088(T;T)
Reference rs548728088(C;C)
Significance Pathogenic
Disease Porokeratosis 8
Variation info
Gene SLC17A9
CLNDBN Porokeratosis 8, disseminated superficial actinic type
Reversed 0
HGVS NC_000020.10:g.61584207C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000144722.2,