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rs122468179

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs122468179(C;C)
Make rs122468179(C;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position21882519
GeneMBTPS2
is asnp
is mentioned by
dbSNPrs122468179
ebirs122468179
HLIrs122468179
Exacrs122468179
Varsomers122468179
Maprs122468179
PheGenIrs122468179
hapmaprs122468179
1000 genomesrs122468179
hgdprs122468179
ensemblrs122468179
gopubmedrs122468179
geneviewrs122468179
scholarrs122468179
googlers122468179
pharmgkbrs122468179
gwascentralrs122468179
openSNPrs122468179
23andMers122468179
23andMe allrs122468179
SNP Nexus

SNPshotrs122468179
SNPdbers122468179
MSV3drs122468179
GWAS Ctlgrs122468179
Max Magnitude0
OMIM300294
Desc
Variant0004
Relatedalso
ClinVar
Risk rs122468179(C;C)
Alt rs122468179(C;C)
Reference rs122468179(T;T)
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.21900637T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000012158.3,