rs193922645

Orientation

plus

Stabilized

plus

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

Make rs193922645(G;T)

Make rs193922645(T;T)

Reference

GRCh38 38.1/141

Chromosome

5

Position

35873586

Gene

IL7R

is a	snp
is	mentioned by
dbSNP	rs193922645
dbSNP (classic)	rs193922645
ClinGen	rs193922645
ebi	rs193922645
HLI	rs193922645
Exac	rs193922645
Gnomad	rs193922645
Varsome	rs193922645
LitVar	rs193922645
Map	rs193922645
PheGenI	rs193922645
Biobank	rs193922645
1000 genomes	rs193922645
hgdp	rs193922645
ensembl	rs193922645
geneview	rs193922645
scholar	rs193922645
google	rs193922645
pharmgkb	rs193922645
gwascentral	rs193922645
openSNP	rs193922645
23andMe	rs193922645
SNPshot	rs193922645
SNPdbe	rs193922645
MSV3d	rs193922645
GWAS Ctlg	rs193922645

Max Magnitude

0

ClinVar
Risk	rs193922645(T;T)
Alt	rs193922645(T;T)
Reference	Rs193922645(G;G)
Significance	Probable-Pathogenic
Disease	Severe combined immunodeficiency disease not provided
Variation	info
Gene	IL7R
CLNDBN	Severe combined immunodeficiency disease not provided
Reversed	0
HGVS	NC_000005.9:g.35873688G>T
CLNSRC	ClinVar LabCorp
CLNACC	RCV000030065.1, RCV000485085.1,

[PMID 18641513] Mutations causing severe combined immunodeficiency: detection with a custom resequencing microarray.