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rs104893860

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104893860(A;A)
Make rs104893860(A;G)
ReferenceGRCh38 38.1/141
Chromosome4
Position110618542
GenePITX2
is asnp
is mentioned by
dbSNPrs104893860
ebirs104893860
HLIrs104893860
Exacrs104893860
Varsomers104893860
Maprs104893860
PheGenIrs104893860
hapmaprs104893860
1000 genomesrs104893860
hgdprs104893860
ensemblrs104893860
gopubmedrs104893860
geneviewrs104893860
scholarrs104893860
googlers104893860
pharmgkbrs104893860
gwascentralrs104893860
openSNPrs104893860
23andMers104893860
23andMe allrs104893860
SNP Nexus

SNPshotrs104893860
SNPdbers104893860
MSV3drs104893860
GWAS Ctlgrs104893860
Max Magnitude0
OMIM601542
Desc
Variant0006
Relatedalso
ClinVar
Risk rs104893860(A;A)
Alt rs104893860(A;A)
Reference rs104893860(G;G)
Significance Pathogenic
Disease Axenfeld-Rieger syndrome type 1
Variation info
Gene PITX2
CLNDBN Axenfeld-Rieger syndrome type 1
Reversed 1
HGVS NC_000004.11:g.111539698C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000008556.3,