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rs28936408

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0
(T;T) 0 common in clinvar
Make rs28936408(A;T)
ReferenceGRCh38 38.1/141
Chromosome4
Position110622300
GenePITX2
is asnp
is mentioned by
dbSNPrs28936408
ebirs28936408
HLIrs28936408
Exacrs28936408
Varsomers28936408
Maprs28936408
PheGenIrs28936408
hapmaprs28936408
1000 genomesrs28936408
hgdprs28936408
ensemblrs28936408
gopubmedrs28936408
geneviewrs28936408
scholarrs28936408
googlers28936408
pharmgkbrs28936408
gwascentralrs28936408
openSNPrs28936408
23andMers28936408
23andMe allrs28936408
SNP Nexus

SNPshotrs28936408
SNPdbers28936408
MSV3drs28936408
GWAS Ctlgrs28936408
Max Magnitude0
OMIM601542
DescRIEGER SYNDROME, TYPE 1
Variant0001
Relatedalso
Neighborrs28936409
Distance997


ClinVar
Risk rs28936408(A;A)
Alt rs28936408(A;A)
Reference rs28936408(T;T)
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.111543456A>T
CLNSRC OMIM Allelic Variant
CLNACC SCV000028759.1, SCV000028759.1,