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rs748385144

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs748385144(C;T)
Make rs748385144(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome13
Position108210706
GeneLIG4
is asnp
is mentioned by
dbSNPrs748385144
dbSNP (classic)rs748385144
ClinGenrs748385144
ebirs748385144
HLIrs748385144
Exacrs748385144
Gnomadrs748385144
Varsomers748385144
LitVarrs748385144
Maprs748385144
PheGenIrs748385144
Biobankrs748385144
1000 genomesrs748385144
hgdprs748385144
ensemblrs748385144
geneviewrs748385144
scholarrs748385144
googlers748385144
pharmgkbrs748385144
gwascentralrs748385144
openSNPrs748385144
23andMers748385144
23andMe allrs748385144
SNPshotrs748385144
SNPdbers748385144
MSV3drs748385144
GWAS Ctlgrs748385144
Max Magnitude0
ClinVar
Risk rs748385144(T;T)
Alt rs748385144(T;T)
Reference Rs748385144(C;C)
Significance Probable-Pathogenic
Disease Severe combined immunodeficiency with sensitivity to ionizing radiation Lig4 syndrome not provided
Variation info
Gene LIG4
CLNDBN Severe combined immunodeficiency with sensitivity to ionizing radiation Lig4 syndrome not provided
Reversed 0
HGVS NC_000013.10:g.108863054C>T
CLNSRC
CLNACC RCV000302024.1, RCV000359181.1, RCV000481605.1,