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rs786200931

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs786200931(A;A)
Make rs786200931(A;C)
ReferenceGRCh38.p2 38.2/146
Chromosome16
Position54932746
GeneIRX5
is asnp
is mentioned by
dbSNPrs786200931
ebirs786200931
HLIrs786200931
Exacrs786200931
Varsomers786200931
Maprs786200931
PheGenIrs786200931
hapmaprs786200931
1000 genomesrs786200931
hgdprs786200931
ensemblrs786200931
gopubmedrs786200931
geneviewrs786200931
scholarrs786200931
googlers786200931
pharmgkbrs786200931
gwascentralrs786200931
openSNPrs786200931
23andMers786200931
23andMe allrs786200931
SNP Nexus

SNPshotrs786200931
SNPdbers786200931
MSV3drs786200931
GWAS Ctlgrs786200931
Max Magnitude0
ClinVar
Risk rs786200931(A;A)
Alt rs786200931(A;A)
Reference rs786200931(C;C)
Significance Pathogenic
Disease Hamamy syndrome
Variation info
Gene IRX5
CLNDBN Hamamy syndrome
Reversed 0
HGVS NC_000016.9:g.54966658C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000024601.63,