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rs74315522

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs74315522(C;G)
Make rs74315522(G;G)
ReferenceGRCh38 38.1/141
Chromosome22
Position19764224
GeneTBX1
is asnp
is mentioned by
dbSNPrs74315522
ebirs74315522
HLIrs74315522
Exacrs74315522
Varsomers74315522
Maprs74315522
PheGenIrs74315522
hapmaprs74315522
1000 genomesrs74315522
hgdprs74315522
ensemblrs74315522
gopubmedrs74315522
geneviewrs74315522
scholarrs74315522
googlers74315522
pharmgkbrs74315522
gwascentralrs74315522
openSNPrs74315522
23andMers74315522
23andMe allrs74315522
SNP Nexus

SNPshotrs74315522
SNPdbers74315522
MSV3drs74315522
GWAS Ctlgrs74315522
Max Magnitude0
OMIM602054
Desc
Variant0005
Relatedalso
ClinVar
Risk rs74315522(G;G)
Alt rs74315522(G;G)
Reference rs74315522(C;C)
Significance Pathogenic
Disease Shprintzen syndrome
Variation info
Gene TBX1
CLNDBN Shprintzen syndrome
Reversed 0
HGVS NC_000022.10:g.19751747C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000008003.2,