rs387907230

Orientation

minus

Stabilized

minus

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

Make rs387907230(C;T)

Make rs387907230(T;T)

Reference

GRCh38 38.1/141

Chromosome

12

Position

21933888

Gene

ABCC9

is a	snp
is	mentioned by
dbSNP	rs387907230
dbSNP (classic)	rs387907230
ClinGen	rs387907230
ebi	rs387907230
HLI	rs387907230
Exac	rs387907230
Gnomad	rs387907230
Varsome	rs387907230
LitVar	rs387907230
Map	rs387907230
PheGenI	rs387907230
Biobank	rs387907230
1000 genomes	rs387907230
hgdp	rs387907230
ensembl	rs387907230
geneview	rs387907230
scholar	rs387907230
google	rs387907230
pharmgkb	rs387907230
gwascentral	rs387907230
openSNP	rs387907230
23andMe	rs387907230
SNPshot	rs387907230
SNPdbe	rs387907230
MSV3d	rs387907230
GWAS Ctlg	rs387907230

Max Magnitude

0

ClinVar
Risk	rs387907230(T;T)
Alt	rs387907230(T;T)
Reference	Rs387907230(C;C)
Significance	Pathogenic
Disease	Hypertrichotic osteochondrodysplasia
Variation	info
Gene	ABCC9
CLNDBN	Hypertrichotic osteochondrodysplasia
Reversed	1
HGVS	NC_000012.11:g.22086822G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000029191.2,