rs122468177

Orientation

plus

Stabilized

plus

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

Make rs122468177(A;A)

Make rs122468177(A;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

21845207

Gene

MBTPS2

is a	snp
is	mentioned by
dbSNP	rs122468177
dbSNP (classic)	rs122468177
ClinGen	rs122468177
ebi	rs122468177
HLI	rs122468177
Exac	rs122468177
Gnomad	rs122468177
Varsome	rs122468177
LitVar	rs122468177
Map	rs122468177
PheGenI	rs122468177
Biobank	rs122468177
1000 genomes	rs122468177
hgdp	rs122468177
ensembl	rs122468177
geneview	rs122468177
scholar	rs122468177
google	rs122468177
pharmgkb	rs122468177
gwascentral	rs122468177
openSNP	rs122468177
23andMe	rs122468177
SNPshot	rs122468177
SNPdbe	rs122468177
MSV3d	rs122468177
GWAS Ctlg	rs122468177

Max Magnitude

0

OMIM	300294
Desc
Variant	0002
Related	also

ClinVar
Risk	rs122468177(A;A)
Alt	rs122468177(A;A)
Reference	Rs122468177(G;G)
Significance	Pathogenic
Disease	IFAP syndrome with or without BRESHECK syndrome
Variation	info
Gene	MBTPS2
CLNDBN	IFAP syndrome with or without BRESHECK syndrome
Reversed	0
HGVS	NC_000023.10:g.21863325G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000012156.11,