rs387906268

Orientation

minus

Stabilized

minus

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

Make rs387906268(A;A)

Make rs387906268(A;T)

Reference

GRCh38 38.1/141

Chromosome

20

Position

44619862

Gene

ADA

is a	snp
is	mentioned by
dbSNP	rs387906268
dbSNP (classic)	rs387906268
ClinGen	rs387906268
ebi	rs387906268
HLI	rs387906268
Exac	rs387906268
Gnomad	rs387906268
Varsome	rs387906268
LitVar	rs387906268
Map	rs387906268
PheGenI	rs387906268
Biobank	rs387906268
1000 genomes	rs387906268
hgdp	rs387906268
ensembl	rs387906268
geneview	rs387906268
scholar	rs387906268
google	rs387906268
pharmgkb	rs387906268
gwascentral	rs387906268
openSNP	rs387906268
23andMe	rs387906268
SNPshot	rs387906268
SNPdbe	rs387906268
MSV3d	rs387906268
GWAS Ctlg	rs387906268

Max Magnitude

0

ClinVar
Risk	rs387906268(A;A)
Alt	rs387906268(A;A)
Reference	Rs387906268(T;T)
Significance	Pathogenic
Disease	SCID due to ADA deficiency
Variation	info
Gene	ADA
CLNDBN	SCID due to ADA deficiency, delayed onset
Reversed	1
HGVS	NC_000020.10:g.43248503A>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000002059.2,