rs121434561

Orientation

minus

Stabilized

minus

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

Make rs121434561(C;T)

Make rs121434561(T;T)

Reference

GRCh38 38.1/141

Chromosome

19

Position

48121244

Gene

LIG1

is a	snp
is	mentioned by
dbSNP	rs121434561
dbSNP (classic)	rs121434561
ClinGen	rs121434561
ebi	rs121434561
HLI	rs121434561
Exac	rs121434561
Gnomad	rs121434561
Varsome	rs121434561
LitVar	rs121434561
Map	rs121434561
PheGenI	rs121434561
Biobank	rs121434561
1000 genomes	rs121434561
hgdp	rs121434561
ensembl	rs121434561
geneview	rs121434561
scholar	rs121434561
google	rs121434561
pharmgkb	rs121434561
gwascentral	rs121434561
openSNP	rs121434561
23andMe	rs121434561
SNPshot	rs121434561
SNPdbe	rs121434561
MSV3d	rs121434561
GWAS Ctlg	rs121434561

Max Magnitude

0

OMIM	126391
Desc
Variant	0002
Related	also

ClinVar
Risk	rs121434561(T;T)
Alt	rs121434561(T;T)
Reference	Rs121434561(C;C)
Significance	Pathogenic
Disease	DNA ligase I deficiency
Variation	info
Gene	LIG1
CLNDBN	DNA ligase I deficiency
Reversed	1
HGVS	NC_000019.9:g.48624501G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000018264.28,