Have questions? Visit https://www.reddit.com/r/SNPedia

rs1057518725

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(TAAAGAC;TAAAGAC) 0 common in clinvar
Make rs1057518725(GT;GT)
Make rs1057518725(GT;TAAAGAC)
ReferenceGRCh38.p7 38.3/150
Chromosome16
Position54933783
GeneIRX5
is asnp
is mentioned by
dbSNPrs1057518725
dbSNP (old)rs1057518725
ClinGenrs1057518725
ebirs1057518725
HLIrs1057518725
Exacrs1057518725
Gnomadrs1057518725
Varsomers1057518725
LitVarrs1057518725
Maprs1057518725
PheGenIrs1057518725
Biobankrs1057518725
1000 genomesrs1057518725
hgdprs1057518725
ensemblrs1057518725
gopubmedrs1057518725
geneviewrs1057518725
scholarrs1057518725
googlers1057518725
pharmgkbrs1057518725
gwascentralrs1057518725
openSNPrs1057518725
23andMers1057518725
23andMe allrs1057518725
SNPshotrs1057518725
SNPdbers1057518725
MSV3drs1057518725
GWAS Ctlgrs1057518725
Max Magnitude0
ClinVar
Risk rs1057518725(GT;GT)
Alt rs1057518725(GT;GT)
Reference Rs1057518725(TAAAGAC;TAAAGAC)
Significance Pathogenic
Disease Hamamy syndrome
Variation info
Gene IRX5
CLNDBN Hamamy syndrome
Reversed 0
HGVS NC_000016.9:g.54967695_54967701delTAAAGACinsGT
CLNSRC
CLNACC RCV000415174.1,