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rs606231251

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs606231251(A;A)
Make rs606231251(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome20
Position62965153
GeneSLC17A9
is asnp
is mentioned by
dbSNPrs606231251
ebirs606231251
HLIrs606231251
Exacrs606231251
Varsomers606231251
Maprs606231251
PheGenIrs606231251
hapmaprs606231251
1000 genomesrs606231251
hgdprs606231251
ensemblrs606231251
gopubmedrs606231251
geneviewrs606231251
scholarrs606231251
googlers606231251
pharmgkbrs606231251
gwascentralrs606231251
openSNPrs606231251
23andMers606231251
23andMe allrs606231251
SNP Nexus

SNPshotrs606231251
SNPdbers606231251
MSV3drs606231251
GWAS Ctlgrs606231251
Max Magnitude0
ClinVar
Risk rs606231251(A;A)
Alt rs606231251(A;A)
Reference rs606231251(G;G)
Significance Pathogenic
Disease Porokeratosis 8
Variation info
Gene SLC17A9
CLNDBN Porokeratosis 8, disseminated superficial actinic type
Reversed 0
HGVS NC_000020.10:g.61596505G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000144721.2,