rs387906672

Orientation

minus

Stabilized

minus

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

Make rs387906672(C;C)

Make rs387906672(C;T)

Reference

GRCh38 38.1/141

Chromosome

19

Position

11576376

Gene	ACP5, ZNF627

is a	snp
is	mentioned by
dbSNP	rs387906672
dbSNP (classic)	rs387906672
ClinGen	rs387906672
ebi	rs387906672
HLI	rs387906672
Exac	rs387906672
Gnomad	rs387906672
Varsome	rs387906672
LitVar	rs387906672
Map	rs387906672
PheGenI	rs387906672
Biobank	rs387906672
1000 genomes	rs387906672
hgdp	rs387906672
ensembl	rs387906672
geneview	rs387906672
scholar	rs387906672
google	rs387906672
pharmgkb	rs387906672
gwascentral	rs387906672
openSNP	rs387906672
23andMe	rs387906672
SNPshot	rs387906672
SNPdbe	rs387906672
MSV3d	rs387906672
GWAS Ctlg	rs387906672

Max Magnitude

0

ClinVar
Risk	rs387906672(C;C)
Alt	rs387906672(C;C)
Reference	Rs387906672(T;T)
Significance	Pathogenic
Disease	Spondyloenchondrodysplasia with immune dysregulation
Variation	info
Gene	ACP5
CLNDBN	Spondyloenchondrodysplasia with immune dysregulation
Reversed	1
HGVS	NC_000019.9:g.11687191A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000022711.20,