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rs587777305

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs587777305(G;G)
Make rs587777305(G;T)
ReferenceGRCh38 38.1/142
ChromosomeX
Position21868458
GeneMBTPS2
is asnp
is mentioned by
dbSNPrs587777305
ebirs587777305
HLIrs587777305
Exacrs587777305
Varsomers587777305
Maprs587777305
PheGenIrs587777305
hapmaprs587777305
1000 genomesrs587777305
hgdprs587777305
ensemblrs587777305
gopubmedrs587777305
geneviewrs587777305
scholarrs587777305
googlers587777305
pharmgkbrs587777305
gwascentralrs587777305
openSNPrs587777305
23andMers587777305
23andMe allrs587777305
SNP Nexus

SNPshotrs587777305
SNPdbers587777305
MSV3drs587777305
GWAS Ctlgrs587777305
Max Magnitude0
ClinVar
Risk rs587777305(G;G)
Alt rs587777305(G;G)
Reference rs587777305(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.21886576T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000114758.2,