rs104894735

Orientation

minus

Stabilized

minus

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

Make rs104894735(C;T)

Make rs104894735(T;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

15852371

Gene

AP1S2

is a	snp
is	mentioned by
dbSNP	rs104894735
dbSNP (classic)	rs104894735
ClinGen	rs104894735
ebi	rs104894735
HLI	rs104894735
Exac	rs104894735
Gnomad	rs104894735
Varsome	rs104894735
LitVar	rs104894735
Map	rs104894735
PheGenI	rs104894735
Biobank	rs104894735
1000 genomes	rs104894735
hgdp	rs104894735
ensembl	rs104894735
geneview	rs104894735
scholar	rs104894735
google	rs104894735
pharmgkb	rs104894735
gwascentral	rs104894735
openSNP	rs104894735
23andMe	rs104894735
SNPshot	rs104894735
SNPdbe	rs104894735
MSV3d	rs104894735
GWAS Ctlg	rs104894735

Max Magnitude

0

OMIM	300629
Desc
Variant	0002
Related	also

ClinVar
Risk	rs104894735(T;T)
Alt	rs104894735(T;T)
Reference	Rs104894735(C;C)
Significance	Pathogenic
Disease	Pettigrew syndrome
Variation	info
Gene	AP1S2
CLNDBN	Pettigrew syndrome
Reversed	1
HGVS	NC_000023.10:g.15870494G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000011525.6,