rs748385144

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar

Make rs748385144(C;T)

Make rs748385144(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

13

Position

108210706

Gene

LIG4

is a	snp
is	mentioned by
dbSNP	rs748385144
dbSNP (classic)	rs748385144
ClinGen	rs748385144
ebi	rs748385144
HLI	rs748385144
Exac	rs748385144
Gnomad	rs748385144
Varsome	rs748385144
LitVar	rs748385144
Map	rs748385144
PheGenI	rs748385144
Biobank	rs748385144
1000 genomes	rs748385144
hgdp	rs748385144
ensembl	rs748385144
geneview	rs748385144
scholar	rs748385144
google	rs748385144
pharmgkb	rs748385144
gwascentral	rs748385144
openSNP	rs748385144
23andMe	rs748385144
SNPshot	rs748385144
SNPdbe	rs748385144
MSV3d	rs748385144
GWAS Ctlg	rs748385144

Max Magnitude

0

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,