rs193922641

plus

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

Make rs193922641(A;A)

Make rs193922641(A;G)

Reference

GRCh38 38.1/141

Chromosome

5

Position

35867437

Gene

IL7R

is a	snp
is	mentioned by
dbSNP	rs193922641
dbSNP (classic)	rs193922641
ClinGen	rs193922641
ebi	rs193922641
HLI	rs193922641
Exac	rs193922641
Gnomad	rs193922641
Varsome	rs193922641
LitVar	rs193922641
Map	rs193922641
PheGenI	rs193922641
Biobank	rs193922641
1000 genomes	rs193922641
hgdp	rs193922641
ensembl	rs193922641
geneview	rs193922641
scholar	rs193922641
google	rs193922641
pharmgkb	rs193922641
gwascentral	rs193922641
openSNP	rs193922641
23andMe	rs193922641
SNPshot	rs193922641
SNPdbe	rs193922641
MSV3d	rs193922641
GWAS Ctlg	rs193922641

Max Magnitude

0

ClinVar
Risk	rs193922641(A;A)
Alt	rs193922641(A;A)
Reference	Rs193922641(G;G)
Significance	Pathogenic
Disease	Severe combined immunodeficiency disease
Variation	info
Gene	IL7R
CLNDBN	Severe combined immunodeficiency disease
Reversed	0
HGVS	NC_000005.9:g.35867539G>A
CLNSRC	ClinVar LabCorp
CLNACC	RCV000030061.1,

[PMID 18255 ] New technique for the treatment of endstage renal failure.

[PMID 15661025] Interleukin-7 receptor alpha (IL-7Ralpha) deficiency: cellular and molecular bases. Analysis of clinical, immunological, and molecular features in 16 novel patients.

[PMID 16492442] Omenn syndrome in an infant with IL7RA gene mutation.

[PMID 17827065 ] IL-7 receptor deficient SCID with a unique intronic mutation and post-transplant autoimmunity due to chronic GVHD.

[PMID 18403192] Genetically determined lymphopenia and autoimmune manifestations.

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