rs878853277

Orientation

plus

Stabilized

plus

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

Make rs878853277(A;A)

Make rs878853277(A;G)

Reference

GRCh38.p2 38.2/147

Chromosome

X

Position

154435338

Gene	ATP6AP1, GDI1

is a	snp
is	mentioned by
dbSNP	rs878853277
dbSNP (classic)	rs878853277
ClinGen	rs878853277
ebi	rs878853277
HLI	rs878853277
Exac	rs878853277
Gnomad	rs878853277
Varsome	rs878853277
LitVar	rs878853277
Map	rs878853277
PheGenI	rs878853277
Biobank	rs878853277
1000 genomes	rs878853277
hgdp	rs878853277
ensembl	rs878853277
geneview	rs878853277
scholar	rs878853277
google	rs878853277
pharmgkb	rs878853277
gwascentral	rs878853277
openSNP	rs878853277
23andMe	rs878853277
SNPshot	rs878853277
SNPdbe	rs878853277
MSV3d	rs878853277
GWAS Ctlg	rs878853277

Max Magnitude

0

ClinVar
Risk	rs878853277(A;A)
Alt	rs878853277(A;A)
Reference	Rs878853277(G;G)
Significance	Pathogenic
Disease	Immunodeficiency due to ficolin 3 deficiency
Variation	info
Gene	ATP6AP1 GDI1
CLNDBN	Immunodeficiency due to ficolin 3 deficiency
Reversed	0
HGVS	NC_000023.10:g.153663684G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000225332.2,