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rs122468177

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs122468177(A;A)
Make rs122468177(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position21845207
GeneMBTPS2
is asnp
is mentioned by
dbSNPrs122468177
ebirs122468177
HLIrs122468177
Exacrs122468177
Varsomers122468177
Maprs122468177
PheGenIrs122468177
hapmaprs122468177
1000 genomesrs122468177
hgdprs122468177
ensemblrs122468177
gopubmedrs122468177
geneviewrs122468177
scholarrs122468177
googlers122468177
pharmgkbrs122468177
gwascentralrs122468177
openSNPrs122468177
23andMers122468177
23andMe allrs122468177
SNP Nexus

SNPshotrs122468177
SNPdbers122468177
MSV3drs122468177
GWAS Ctlgrs122468177
Max Magnitude0
OMIM300294
Desc
Variant0002
Relatedalso
ClinVar
Risk rs122468177(A;A)
Alt rs122468177(A;A)
Reference rs122468177(G;G)
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.21863325G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000012156.11,