rs398122383

Orientation

plus

Stabilized

plus

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

Make rs398122383(A;T)

Make rs398122383(T;T)

Reference

GRCh38 38.1/141

Chromosome

1

Position

198718267

Gene

PTPRC

is a	snp
is	mentioned by
dbSNP	rs398122383
dbSNP (classic)	rs398122383
ClinGen	rs398122383
ebi	rs398122383
HLI	rs398122383
Exac	rs398122383
Gnomad	rs398122383
Varsome	rs398122383
LitVar	rs398122383
Map	rs398122383
PheGenI	rs398122383
Biobank	rs398122383
1000 genomes	rs398122383
hgdp	rs398122383
ensembl	rs398122383
geneview	rs398122383
scholar	rs398122383
google	rs398122383
pharmgkb	rs398122383
gwascentral	rs398122383
openSNP	rs398122383
23andMe	rs398122383
SNPshot	rs398122383
SNPdbe	rs398122383
MSV3d	rs398122383
GWAS Ctlg	rs398122383

Max Magnitude

0

ClinVar
Risk	rs398122383(G;G) rs398122383(T;T)
Alt	rs398122383(G;G) rs398122383(T;T)
Reference	Rs398122383(A;A)
Significance	Pathogenic
Disease	Severe combined immunodeficiency
Variation	info
Gene	PTPRC
CLNDBN	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive
Reversed	0
HGVS	NC_000001.10:g.198687396A>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000054517.25,