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rs755948940

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs755948940(C;C)
Make rs755948940(C;T)
ReferenceGRCh38.p2 38.2/147
Chromosome16
Position88655221
GeneMVD
is asnp
is mentioned by
dbSNPrs755948940
ebirs755948940
HLIrs755948940
Exacrs755948940
Varsomers755948940
Maprs755948940
PheGenIrs755948940
hapmaprs755948940
1000 genomesrs755948940
hgdprs755948940
ensemblrs755948940
gopubmedrs755948940
geneviewrs755948940
scholarrs755948940
googlers755948940
pharmgkbrs755948940
gwascentralrs755948940
openSNPrs755948940
23andMers755948940
23andMe allrs755948940
SNP Nexus

SNPshotrs755948940
SNPdbers755948940
MSV3drs755948940
GWAS Ctlgrs755948940
Max Magnitude0
ClinVar
Risk rs755948940(C;C)
Alt rs755948940(C;C)
Reference rs755948940(T;T)
Significance Pathogenic
Disease Porokeratosis 7
Variation info
Gene MVD
CLNDBN Porokeratosis 7, multiple types
Reversed 0
HGVS NC_000016.9:g.88721629T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000239520.1,