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rs122468178

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs122468178(A;A)
Make rs122468178(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position21880921
GeneMBTPS2
is asnp
is mentioned by
dbSNPrs122468178
ebirs122468178
HLIrs122468178
Exacrs122468178
Varsomers122468178
Maprs122468178
PheGenIrs122468178
hapmaprs122468178
1000 genomesrs122468178
hgdprs122468178
ensemblrs122468178
gopubmedrs122468178
geneviewrs122468178
scholarrs122468178
googlers122468178
pharmgkbrs122468178
gwascentralrs122468178
openSNPrs122468178
23andMers122468178
23andMe allrs122468178
SNP Nexus

SNPshotrs122468178
SNPdbers122468178
MSV3drs122468178
GWAS Ctlgrs122468178
Max Magnitude0
OMIM300294
Desc
Variant0003
Relatedalso
ClinVar
Risk rs122468178(A;A)
Alt rs122468178(A;A)
Reference rs122468178(G;G)
Significance Pathogenic
Disease IFAP syndrome with or without BRESHECK syndrome not provided
Variation info
Gene MBTPS2
CLNDBN IFAP syndrome with or without BRESHECK syndrome not provided
Reversed 0
HGVS NC_000023.10:g.21899039G>A
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000012157.17, RCV000081781.4,