rs104894380

Orientation

plus

Stabilized

plus

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

Make rs104894380(C;C)

Make rs104894380(C;T)

Reference

GRCh38 38.1/141

Chromosome

12

Position

109103562

Gene

UNG

is a	snp
is	mentioned by
dbSNP	rs104894380
dbSNP (classic)	rs104894380
ClinGen	rs104894380
ebi	rs104894380
HLI	rs104894380
Exac	rs104894380
Gnomad	rs104894380
Varsome	rs104894380
LitVar	rs104894380
Map	rs104894380
PheGenI	rs104894380
Biobank	rs104894380
1000 genomes	rs104894380
hgdp	rs104894380
ensembl	rs104894380
geneview	rs104894380
scholar	rs104894380
google	rs104894380
pharmgkb	rs104894380
gwascentral	rs104894380
openSNP	rs104894380
23andMe	rs104894380
SNPshot	rs104894380
SNPdbe	rs104894380
MSV3d	rs104894380
GWAS Ctlg	rs104894380

Max Magnitude

0

OMIM	191525
Desc
Variant	0003
Related	also

ClinVar
Risk	rs104894380(C;C)
Alt	rs104894380(C;C)
Reference	Rs104894380(T;T)
Significance	Pathogenic
Disease	Immunodeficiency with hyper IgM type 5
Variation	info
Gene	UNG
CLNDBN	Immunodeficiency with hyper IgM type 5
Reversed	0
HGVS	NC_000012.11:g.109541367T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000013086.26,