rs104894420

Orientation

minus

Stabilized

minus

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

Make rs104894420(A;A)

Make rs104894420(A;G)

Reference

GRCh38 38.1/141

Chromosome

13

Position

108209863

Gene

LIG4

is a	snp
is	mentioned by
dbSNP	rs104894420
dbSNP (classic)	rs104894420
ClinGen	rs104894420
ebi	rs104894420
HLI	rs104894420
Exac	rs104894420
Gnomad	rs104894420
Varsome	rs104894420
LitVar	rs104894420
Map	rs104894420
PheGenI	rs104894420
Biobank	rs104894420
1000 genomes	rs104894420
hgdp	rs104894420
ensembl	rs104894420
geneview	rs104894420
scholar	rs104894420
google	rs104894420
pharmgkb	rs104894420
gwascentral	rs104894420
openSNP	rs104894420
23andMe	rs104894420
SNPshot	rs104894420
SNPdbe	rs104894420
MSV3d	rs104894420
GWAS Ctlg	rs104894420

Max Magnitude

0

OMIM	601837
Desc
Variant	0003
Related	also

ClinVar
Risk	rs104894420(A;A)
Alt	rs104894420(A;A)
Reference	Rs104894420(G;G)
Significance	Pathogenic
Disease	Lig4 syndrome
Variation	info
Gene	LIG4
CLNDBN	Lig4 syndrome
Reversed	1
HGVS	NC_000013.10:g.108862211C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000008113.3,