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rs122468180

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs122468180(G;T)
Make rs122468180(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position21868473
GeneMBTPS2
is asnp
is mentioned by
dbSNPrs122468180
ebirs122468180
HLIrs122468180
Exacrs122468180
Varsomers122468180
Maprs122468180
PheGenIrs122468180
hapmaprs122468180
1000 genomesrs122468180
hgdprs122468180
ensemblrs122468180
gopubmedrs122468180
geneviewrs122468180
scholarrs122468180
googlers122468180
pharmgkbrs122468180
gwascentralrs122468180
openSNPrs122468180
23andMers122468180
23andMe allrs122468180
SNP Nexus

SNPshotrs122468180
SNPdbers122468180
MSV3drs122468180
GWAS Ctlgrs122468180
Max Magnitude0
OMIM300294
Desc
Variant0005
Relatedalso
ClinVar
Risk rs122468180(T;T)
Alt rs122468180(T;T)
Reference rs122468180(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.21886591G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000012159.11,