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rs786203996

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs786203996(A;G)
Make rs786203996(G;G)
ReferenceGRCh38.p2 38.2/146
ChromosomeX
Position54443418
GeneTSR2
is asnp
is mentioned by
dbSNPrs786203996
ebirs786203996
HLIrs786203996
Exacrs786203996
Varsomers786203996
Maprs786203996
PheGenIrs786203996
hapmaprs786203996
1000 genomesrs786203996
hgdprs786203996
ensemblrs786203996
gopubmedrs786203996
geneviewrs786203996
scholarrs786203996
googlers786203996
pharmgkbrs786203996
gwascentralrs786203996
openSNPrs786203996
23andMers786203996
23andMe allrs786203996
SNP Nexus

SNPshotrs786203996
SNPdbers786203996
MSV3drs786203996
GWAS Ctlgrs786203996
Max Magnitude0
ClinVar
Risk rs786203996(G;G)
Alt rs786203996(G;G)
Reference rs786203996(A;A)
Significance Pathogenic
Disease Diamond-Blackfan anemia 14 with mandibulofacial dysostosis Diamond-Blackfan anemia 15 with mandibulofacial dysostosis
Variation info
Gene TSR2
CLNDBN Diamond-Blackfan anemia 14 with mandibulofacial dysostosis Diamond-Blackfan anemia 15 with mandibulofacial dysostosis
Reversed 0
HGVS NC_000023.10:g.54469851A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000167572.3, RCV000191915.1,