rs387907228

Orientation

minus

Stabilized

minus

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

Make rs387907228(C;T)

Make rs387907228(T;T)

Reference

GRCh38 38.1/141

Chromosome

12

Position

21842441

Gene

ABCC9

is a	snp
is	mentioned by
dbSNP	rs387907228
dbSNP (classic)	rs387907228
ClinGen	rs387907228
ebi	rs387907228
HLI	rs387907228
Exac	rs387907228
Gnomad	rs387907228
Varsome	rs387907228
LitVar	rs387907228
Map	rs387907228
PheGenI	rs387907228
Biobank	rs387907228
1000 genomes	rs387907228
hgdp	rs387907228
ensembl	rs387907228
geneview	rs387907228
scholar	rs387907228
google	rs387907228
pharmgkb	rs387907228
gwascentral	rs387907228
openSNP	rs387907228
23andMe	rs387907228
SNPshot	rs387907228
SNPdbe	rs387907228
MSV3d	rs387907228
GWAS Ctlg	rs387907228

Max Magnitude

0

ClinVar
Risk	rs387907228(T;T)
Alt	rs387907228(T;T)
Reference	Rs387907228(C;C)
Significance	Pathogenic
Disease	Hypertrichotic osteochondrodysplasia
Variation	info
Gene	ABCC9
CLNDBN	Hypertrichotic osteochondrodysplasia
Reversed	1
HGVS	NC_000012.11:g.21995375G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000029189.2,