rs869312857

Orientation

plus

Stabilized

plus

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

Make rs869312857(-;A)

Make rs869312857(A;A)

Reference

GRCh38.p2 38.2/147

Chromosome

5

Position

35867445

Gene

IL7R

is a	snp
is	mentioned by
dbSNP	rs869312857
dbSNP (classic)	rs869312857
ClinGen	rs869312857
ebi	rs869312857
HLI	rs869312857
Exac	rs869312857
Gnomad	rs869312857
Varsome	rs869312857
LitVar	rs869312857
Map	rs869312857
PheGenI	rs869312857
Biobank	rs869312857
1000 genomes	rs869312857
hgdp	rs869312857
ensembl	rs869312857
geneview	rs869312857
scholar	rs869312857
google	rs869312857
pharmgkb	rs869312857
gwascentral	rs869312857
openSNP	rs869312857
23andMe	rs869312857
SNPshot	rs869312857
SNPdbe	rs869312857
MSV3d	rs869312857
GWAS Ctlg	rs869312857

Max Magnitude

0

ClinVar
Risk	rs869312857(A;A)
Alt	rs869312857(A;A)
Reference	Rs869312857(-;-)
Significance	Pathogenic
Disease	Severe combined immunodeficiency
Variation	info
Gene	IL7R
CLNDBN	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive
Reversed	0
HGVS	NC_000005.9:g.35867547dupA
CLNSRC
CLNACC	RCV000210421.1,