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rs281875237

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs281875237(G;G)
Make rs281875237(G;T)
ReferenceGRCh38 38.1/141
Chromosome6
Position31962012
GeneSKIV2L
is asnp
is mentioned by
dbSNPrs281875237
ebirs281875237
HLIrs281875237
Exacrs281875237
Varsomers281875237
Maprs281875237
PheGenIrs281875237
hapmaprs281875237
1000 genomesrs281875237
hgdprs281875237
ensemblrs281875237
gopubmedrs281875237
geneviewrs281875237
scholarrs281875237
googlers281875237
pharmgkbrs281875237
gwascentralrs281875237
openSNPrs281875237
23andMers281875237
23andMe allrs281875237
SNP Nexus

SNPshotrs281875237
SNPdbers281875237
MSV3drs281875237
GWAS Ctlgrs281875237
Max Magnitude0
ClinVar
Risk rs281875237(G;G)
Alt rs281875237(G;G)
Reference rs281875237(T;T)
Significance Pathogenic
Disease Trichohepatoenteric syndrome 2 not provided
Variation info
Gene SKIV2L
CLNDBN Trichohepatoenteric syndrome 2 not provided
Reversed 0
HGVS NC_000006.11:g.31929789T>G
CLNSRC OMIM Allelic Variant UniProtKB (variants)
CLNACC RCV000022973.3, RCV000059689.1,


[PMID 22444670OA-icon.png] SKIV2L mutations cause syndromic diarrhea, or trichohepatoenteric syndrome.