rs878853275

Orientation

plus

Stabilized

plus

Make rs878853275(A;A)

Make rs878853275(A;G)

Reference

GRCh38.p2 38.2/147

Chromosome

X

Position

154435762

Gene	ATP6AP1, GDI1

is a	snp
is	mentioned by
dbSNP	rs878853275
dbSNP (classic)	rs878853275
ClinGen	rs878853275
ebi	rs878853275
HLI	rs878853275
Exac	rs878853275
Gnomad	rs878853275
Varsome	rs878853275
LitVar	rs878853275
Map	rs878853275
PheGenI	rs878853275
Biobank	rs878853275
1000 genomes	rs878853275
hgdp	rs878853275
ensembl	rs878853275
geneview	rs878853275
scholar	rs878853275
google	rs878853275
pharmgkb	rs878853275
gwascentral	rs878853275
openSNP	rs878853275
23andMe	rs878853275
SNPshot	rs878853275
SNPdbe	rs878853275
MSV3d	rs878853275
GWAS Ctlg	rs878853275

Max Magnitude

0

ClinVar
Risk	rs878853275(A;A)
Alt	rs878853275(A;A)
Reference	Rs878853275(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.153664108G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000225137.2,