rs104894421

Orientation

minus

Stabilized

minus

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

Make rs104894421(A;A)

Make rs104894421(A;G)

Reference

GRCh38 38.1/141

Chromosome

13

Position

108210436

Gene

LIG4

is a	snp
is	mentioned by
dbSNP	rs104894421
dbSNP (classic)	rs104894421
ClinGen	rs104894421
ebi	rs104894421
HLI	rs104894421
Exac	rs104894421
Gnomad	rs104894421
Varsome	rs104894421
LitVar	rs104894421
Map	rs104894421
PheGenI	rs104894421
Biobank	rs104894421
1000 genomes	rs104894421
hgdp	rs104894421
ensembl	rs104894421
geneview	rs104894421
scholar	rs104894421
google	rs104894421
pharmgkb	rs104894421
gwascentral	rs104894421
openSNP	rs104894421
23andMe	rs104894421
SNPshot	rs104894421
SNPdbe	rs104894421
MSV3d	rs104894421
GWAS Ctlg	rs104894421

Max Magnitude

0

OMIM	601837
Desc
Variant	0004
Related	also

ClinVar
Risk	rs104894421(A;A)
Alt	rs104894421(A;A)
Reference	Rs104894421(G;G)
Significance	Pathogenic
Disease	Lig4 syndrome
Variation	info
Gene	LIG4
CLNDBN	Lig4 syndrome
Reversed	1
HGVS	NC_000013.10:g.108862784C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000008114.2,