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rs587776663

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AACC;AACC) 0 common in clinvar
(GTT;GTT) 0 common in clinvar
Make rs587776663(-;-)
Make rs587776663(-;GTT)
ReferenceGRCh38 38.1/142
Chromosome13
Position108209969
GeneLIG4
is asnp
is mentioned by
dbSNPrs587776663
ebirs587776663
HLIrs587776663
Exacrs587776663
Varsomers587776663
Maprs587776663
PheGenIrs587776663
hapmaprs587776663
1000 genomesrs587776663
hgdprs587776663
ensemblrs587776663
gopubmedrs587776663
geneviewrs587776663
scholarrs587776663
googlers587776663
pharmgkbrs587776663
gwascentralrs587776663
openSNPrs587776663
23andMers587776663
23andMe allrs587776663
SNP Nexus

SNPshotrs587776663
SNPdbers587776663
MSV3drs587776663
GWAS Ctlgrs587776663
Max Magnitude0
ClinVar
Risk rs587776663(GTTC,C;GTTC,C)
Alt rs587776663(GTTC,C;GTTC,C)
Reference rs587776663(AACC;AACC)
Significance Pathogenic
Disease Lig4 syndrome
Variation info
Gene LIG4
CLNDBN Lig4 syndrome
Reversed 1
HGVS NC_000013.10:g.108862317_108862319delGTT
CLNSRC OMIM Allelic Variant
CLNACC RCV000008117.3,