rs114025668

Orientation

plus

Stabilized

plus

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

Make rs114025668(A;A)

Make rs114025668(A;G)

Make rs114025668(G;G)

Reference

GRCh38 38.1/141

Chromosome

20

Position

44623042

Gene

ADA

is a	snp
is	mentioned by
dbSNP	rs114025668
dbSNP (classic)	rs114025668
ClinGen	rs114025668
ebi	rs114025668
HLI	rs114025668
Exac	rs114025668
Gnomad	rs114025668
Varsome	rs114025668
LitVar	rs114025668
Map	rs114025668
PheGenI	rs114025668
Biobank	rs114025668
1000 genomes	rs114025668
hgdp	rs114025668
ensembl	rs114025668
geneview	rs114025668
scholar	rs114025668
google	rs114025668
pharmgkb	rs114025668
gwascentral	rs114025668
openSNP	rs114025668
23andMe	rs114025668
SNPshot	rs114025668
SNPdbe	rs114025668
MSV3d	rs114025668
GWAS Ctlg	rs114025668

GMAF

0.0004591

Max Magnitude

0

OMIM	608958
Desc
Variant	0015
Related	also

ClinVar
Risk	rs114025668(T;T)
Alt	rs114025668(T;T)
Reference	Rs114025668(C;C)
Significance	Pathogenic
Disease	Partial adenosine deaminase deficiency Severe combined immunodeficiency due to ADA deficiency
Variation	info
Gene	ADA
CLNDBN	Partial adenosine deaminase deficiency Severe combined immunodeficiency due to ADA deficiency
Reversed	0
HGVS	NC_000020.10:g.43251683C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein) UniProtKB (variants)
CLNACC	RCV000002044.2, RCV000059112.1,

[PMID 2166947] Hot spot mutations in adenosine deaminase deficiency.