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rs387907198

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs387907198(C;C)
Make rs387907198(C;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position54932696
GeneIRX5
is asnp
is mentioned by
dbSNPrs387907198
ebirs387907198
HLIrs387907198
Exacrs387907198
Varsomers387907198
Maprs387907198
PheGenIrs387907198
hapmaprs387907198
1000 genomesrs387907198
hgdprs387907198
ensemblrs387907198
gopubmedrs387907198
geneviewrs387907198
scholarrs387907198
googlers387907198
pharmgkbrs387907198
gwascentralrs387907198
openSNPrs387907198
23andMers387907198
23andMe allrs387907198
SNP Nexus

SNPshotrs387907198
SNPdbers387907198
MSV3drs387907198
GWAS Ctlgrs387907198
Max Magnitude0
ClinVar
Risk rs387907198(C;C)
Alt rs387907198(C;C)
Reference rs387907198(G;G)
Significance Pathogenic
Disease Hamamy syndrome
Variation info
Gene IRX5
CLNDBN Hamamy syndrome
Reversed 0
HGVS NC_000016.9:g.54966608G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000024602.3,