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rs118203954

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs118203954(A;A)
Make rs118203954(A;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position108530286
GeneSART3
is asnp
is mentioned by
dbSNPrs118203954
ebirs118203954
HLIrs118203954
Exacrs118203954
Varsomers118203954
Maprs118203954
PheGenIrs118203954
hapmaprs118203954
1000 genomesrs118203954
hgdprs118203954
ensemblrs118203954
gopubmedrs118203954
geneviewrs118203954
scholarrs118203954
googlers118203954
pharmgkbrs118203954
gwascentralrs118203954
openSNPrs118203954
23andMers118203954
23andMe allrs118203954
SNP Nexus

SNPshotrs118203954
SNPdbers118203954
MSV3drs118203954
GWAS Ctlgrs118203954
Max Magnitude0
OMIM611684
Desc
Variant0001
Relatedalso
ClinVar
Risk rs118203954(A;A)
Alt rs118203954(A;A)
Reference rs118203954(G;G)
Significance Pathogenic
Disease Porokeratosis
Variation info
Gene SART3
CLNDBN Porokeratosis, disseminated superficial actinic 1
Reversed 1
HGVS NC_000012.11:g.108924063C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000000897.3,