rs1057516044

Orientation

minus

Stabilized

minus

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

Make rs1057516044(C;C)

Make rs1057516044(C;T)

Reference

GRCh38.p7 38.3/150

Chromosome

12

Position

21913005

Gene

ABCC9

is a	snp
is	mentioned by
dbSNP	rs1057516044
dbSNP (classic)	rs1057516044
ClinGen	rs1057516044
ebi	rs1057516044
HLI	rs1057516044
Exac	rs1057516044
Gnomad	rs1057516044
Varsome	rs1057516044
LitVar	rs1057516044
Map	rs1057516044
PheGenI	rs1057516044
Biobank	rs1057516044
1000 genomes	rs1057516044
hgdp	rs1057516044
ensembl	rs1057516044
geneview	rs1057516044
scholar	rs1057516044
google	rs1057516044
pharmgkb	rs1057516044
gwascentral	rs1057516044
openSNP	rs1057516044
23andMe	rs1057516044
SNPshot	rs1057516044
SNPdbe	rs1057516044
MSV3d	rs1057516044
GWAS Ctlg	rs1057516044

Max Magnitude

0

ClinVar
Risk	rs1057516044(C;C)
Alt	rs1057516044(C;C)
Reference	Rs1057516044(T;T)
Significance	Probable-Pathogenic
Disease	Hypertrichotic osteochondrodysplasia
Variation	info
Gene	ABCC9
CLNDBN	Hypertrichotic osteochondrodysplasia
Reversed	1
HGVS	NC_000012.11:g.22065939A>G
CLNSRC
CLNACC	RCV000408624.1,