rs122468180

Orientation

plus

Stabilized

plus

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

Make rs122468180(G;T)

Make rs122468180(T;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

21868473

Gene

MBTPS2

is a	snp
is	mentioned by
dbSNP	rs122468180
dbSNP (classic)	rs122468180
ClinGen	rs122468180
ebi	rs122468180
HLI	rs122468180
Exac	rs122468180
Gnomad	rs122468180
Varsome	rs122468180
LitVar	rs122468180
Map	rs122468180
PheGenI	rs122468180
Biobank	rs122468180
1000 genomes	rs122468180
hgdp	rs122468180
ensembl	rs122468180
geneview	rs122468180
scholar	rs122468180
google	rs122468180
pharmgkb	rs122468180
gwascentral	rs122468180
openSNP	rs122468180
23andMe	rs122468180
SNPshot	rs122468180
SNPdbe	rs122468180
MSV3d	rs122468180
GWAS Ctlg	rs122468180

Max Magnitude

0

OMIM	300294
Desc
Variant	0005
Related	also

ClinVar
Risk	rs122468180(T;T)
Alt	rs122468180(T;T)
Reference	Rs122468180(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.21886591G>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000012159.11,