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rs745983207

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs745983207(A;A)
Make rs745983207(A;G)
ReferenceGRCh38.p2 38.2/147
Chromosome1
Position154926384
GenePMVK
is asnp
is mentioned by
dbSNPrs745983207
ebirs745983207
HLIrs745983207
Exacrs745983207
Varsomers745983207
Maprs745983207
PheGenIrs745983207
hapmaprs745983207
1000 genomesrs745983207
hgdprs745983207
ensemblrs745983207
gopubmedrs745983207
geneviewrs745983207
scholarrs745983207
googlers745983207
pharmgkbrs745983207
gwascentralrs745983207
openSNPrs745983207
23andMers745983207
23andMe allrs745983207
SNP Nexus

SNPshotrs745983207
SNPdbers745983207
MSV3drs745983207
GWAS Ctlgrs745983207
Max Magnitude0
ClinVar
Risk rs745983207(A;A)
Alt rs745983207(A;A)
Reference rs745983207(G;G)
Significance Pathogenic
Disease Porokeratosis of Mibelli
Variation info
Gene PMVK
CLNDBN Porokeratosis of Mibelli
Reversed 0
HGVS NC_000001.10:g.154898860G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000239572.1,