rs121434560

Orientation

minus

Stabilized

minus

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

Make rs121434560(A;A)

Make rs121434560(A;G)

Reference

GRCh38 38.1/141

Chromosome

19

Position

48133011

Gene

LIG1

is a	snp
is	mentioned by
dbSNP	rs121434560
dbSNP (classic)	rs121434560
ClinGen	rs121434560
ebi	rs121434560
HLI	rs121434560
Exac	rs121434560
Gnomad	rs121434560
Varsome	rs121434560
LitVar	rs121434560
Map	rs121434560
PheGenI	rs121434560
Biobank	rs121434560
1000 genomes	rs121434560
hgdp	rs121434560
ensembl	rs121434560
geneview	rs121434560
scholar	rs121434560
google	rs121434560
pharmgkb	rs121434560
gwascentral	rs121434560
openSNP	rs121434560
23andMe	rs121434560
SNPshot	rs121434560
SNPdbe	rs121434560
MSV3d	rs121434560
GWAS Ctlg	rs121434560

Max Magnitude

0

OMIM	126391
Desc
Variant	0001
Related	also

ClinVar
Risk	rs121434560(A;A)
Alt	rs121434560(A;A)
Reference	Rs121434560(G;G)
Significance	Pathogenic
Disease	DNA ligase I deficiency
Variation	info
Gene	LIG1
CLNDBN	DNA ligase I deficiency
Reversed	1
HGVS	NC_000019.9:g.48636268C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000018263.28,