Have questions? Visit https://www.reddit.com/r/SNPedia

rs122468176

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs122468176(A;T)
Make rs122468176(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position21868476
GeneMBTPS2
is asnp
is mentioned by
dbSNPrs122468176
ebirs122468176
HLIrs122468176
Exacrs122468176
Varsomers122468176
Maprs122468176
PheGenIrs122468176
hapmaprs122468176
1000 genomesrs122468176
hgdprs122468176
ensemblrs122468176
gopubmedrs122468176
geneviewrs122468176
scholarrs122468176
googlers122468176
pharmgkbrs122468176
gwascentralrs122468176
openSNPrs122468176
23andMers122468176
23andMe allrs122468176
SNP Nexus

SNPshotrs122468176
SNPdbers122468176
MSV3drs122468176
GWAS Ctlgrs122468176
Max Magnitude0
OMIM300294
Desc
Variant0001
Relatedalso
ClinVar
Risk rs122468176(T;T)
Alt rs122468176(T;T)
Reference rs122468176(A;A)
Significance Pathogenic
Disease IFAP syndrome with or without BRESHECK syndrome
Variation info
Gene MBTPS2
CLNDBN IFAP syndrome with or without BRESHECK syndrome
Reversed 0
HGVS NC_000023.10:g.21886594A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000012155.12,