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rs119473031

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs119473031(C;T)
Make rs119473031(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position237493529
GeneMLPH
is asnp
is mentioned by
dbSNPrs119473031
ebirs119473031
HLIrs119473031
Exacrs119473031
Varsomers119473031
Maprs119473031
PheGenIrs119473031
hapmaprs119473031
1000 genomesrs119473031
hgdprs119473031
ensemblrs119473031
gopubmedrs119473031
geneviewrs119473031
scholarrs119473031
googlers119473031
pharmgkbrs119473031
gwascentralrs119473031
openSNPrs119473031
23andMers119473031
23andMe allrs119473031
SNP Nexus

SNPshotrs119473031
SNPdbers119473031
MSV3drs119473031
GWAS Ctlgrs119473031
Max Magnitude0
OMIM606526
Desc
Variant0001
Relatedalso
ClinVar
Risk rs119473031(T;T)
Alt rs119473031(T;T)
Reference rs119473031(C;C)
Significance Pathogenic
Disease Griscelli syndrome type 3
Variation info
Gene MLPH
CLNDBN Griscelli syndrome type 3
Reversed 0
HGVS NC_000002.11:g.238402172C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000004489.2,