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rs28936409

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0
(G;G) 0 common in clinvar
Make rs28936409(C;G)
ReferenceGRCh38 38.1/141
Chromosome4
Position110621303
GenePITX2
is asnp
is mentioned by
dbSNPrs28936409
ebirs28936409
HLIrs28936409
Exacrs28936409
Varsomers28936409
Maprs28936409
PheGenIrs28936409
hapmaprs28936409
1000 genomesrs28936409
hgdprs28936409
ensemblrs28936409
gopubmedrs28936409
geneviewrs28936409
scholarrs28936409
googlers28936409
pharmgkbrs28936409
gwascentralrs28936409
openSNPrs28936409
23andMers28936409
23andMe allrs28936409
SNP Nexus

SNPshotrs28936409
SNPdbers28936409
MSV3drs28936409
GWAS Ctlgrs28936409
Max Magnitude0
OMIM601542
DescRIEGER SYNDROME, TYPE 1
Variant0005
Relatedalso
Neighborrs28936408
Distance997


ClinVar
Risk rs28936409(C;C)
Alt rs28936409(C;C)
Reference rs28936409(G;G)
Significance Untested
Disease Axenfeld-Rieger syndrome type 1
Variation info
Gene PITX2
CLNDBN Axenfeld-Rieger syndrome type 1
Reversed 1
HGVS NC_000004.11:g.111542459C>G
CLNSRC OMIM Allelic Variant
CLNACC SCV000028763.1, SCV000028763.1,