rs193922647

Orientation

plus

Stabilized

plus

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

Make rs193922647(A;C)

Make rs193922647(C;C)

Reference

GRCh38 38.1/141

Chromosome

5

Position

35875988

Gene

IL7R

is a	snp
is	mentioned by
dbSNP	rs193922647
dbSNP (classic)	rs193922647
ClinGen	rs193922647
ebi	rs193922647
HLI	rs193922647
Exac	rs193922647
Gnomad	rs193922647
Varsome	rs193922647
LitVar	rs193922647
Map	rs193922647
PheGenI	rs193922647
Biobank	rs193922647
1000 genomes	rs193922647
hgdp	rs193922647
ensembl	rs193922647
geneview	rs193922647
scholar	rs193922647
google	rs193922647
pharmgkb	rs193922647
gwascentral	rs193922647
openSNP	rs193922647
23andMe	rs193922647
SNPshot	rs193922647
SNPdbe	rs193922647
MSV3d	rs193922647
GWAS Ctlg	rs193922647

Max Magnitude

0

ClinVar
Risk	rs193922647(C;C)
Alt	rs193922647(C;C)
Reference	Rs193922647(A;A)
Significance	Probable-Pathogenic
Disease	Severe combined immunodeficiency disease
Variation	info
Gene	IL7R
CLNDBN	Severe combined immunodeficiency disease
Reversed	0
HGVS	NC_000005.9:g.35876090A>C
CLNSRC	ClinVar LabCorp
CLNACC	RCV000030067.1,