rs730880319

Orientation

plus

Stabilized

plus

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

Make rs730880319(-;-)

Make rs730880319(-;AAGTGGTACGCAC)

Make rs730880319(AAGTGGTACGCAC;AAGTGGTACGCAC)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

97737784

Gene

ZAP70

is a	snp
is	mentioned by
dbSNP	rs730880319
dbSNP (classic)	rs730880319
ClinGen	rs730880319
ebi	rs730880319
HLI	rs730880319
Exac	rs730880319
Gnomad	rs730880319
Varsome	rs730880319
LitVar	rs730880319
Map	rs730880319
PheGenI	rs730880319
Biobank	rs730880319
1000 genomes	rs730880319
hgdp	rs730880319
ensembl	rs730880319
geneview	rs730880319
scholar	rs730880319
google	rs730880319
pharmgkb	rs730880319
gwascentral	rs730880319
openSNP	rs730880319
23andMe	rs730880319
SNPshot	rs730880319
SNPdbe	rs730880319
MSV3d	rs730880319
GWAS Ctlg	rs730880319

Max Magnitude

0

ClinVar
Risk	rs730880319(-;-)
Alt	rs730880319(-;-)
Reference	Rs730880319(CAAGTGGTACGCA;CAAGTGGTACGCA)
Significance	Pathogenic
Disease	Severe combined immunodeficiency
Variation	info
Gene	ZAP70
CLNDBN	Severe combined immunodeficiency, atypical
Reversed	0
HGVS	NC_000002.11:g.98354247_98354259delAAGTGGTACGCAC
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000014164.27,