rs104894739

Orientation

minus

Stabilized

minus

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

Make rs104894739(C;T)

Make rs104894739(T;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

15852419

Gene

AP1S2

is a	snp
is	mentioned by
dbSNP	rs104894739
dbSNP (classic)	rs104894739
ClinGen	rs104894739
ebi	rs104894739
HLI	rs104894739
Exac	rs104894739
Gnomad	rs104894739
Varsome	rs104894739
LitVar	rs104894739
Map	rs104894739
PheGenI	rs104894739
Biobank	rs104894739
1000 genomes	rs104894739
hgdp	rs104894739
ensembl	rs104894739
geneview	rs104894739
scholar	rs104894739
google	rs104894739
pharmgkb	rs104894739
gwascentral	rs104894739
openSNP	rs104894739
23andMe	rs104894739
SNPshot	rs104894739
SNPdbe	rs104894739
MSV3d	rs104894739
GWAS Ctlg	rs104894739

Max Magnitude

0

OMIM	300629
Desc
Variant	0001
Related	also

ClinVar
Risk	rs104894739(T;T)
Alt	rs104894739(T;T)
Reference	Rs104894739(C;C)
Significance	Pathogenic
Disease	Pettigrew syndrome
Variation	info
Gene	AP1S2
CLNDBN	Pettigrew syndrome
Reversed	1
HGVS	NC_000023.10:g.15870542G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000011524.6,