rs387907208

Orientation

minus

Stabilized

minus

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

Make rs387907208(C;T)

Make rs387907208(T;T)

Reference

GRCh38 38.1/141

Chromosome

12

Position

21842327

Gene

ABCC9

is a	snp
is	mentioned by
dbSNP	rs387907208
dbSNP (classic)	rs387907208
ClinGen	rs387907208
ebi	rs387907208
HLI	rs387907208
Exac	rs387907208
Gnomad	rs387907208
Varsome	rs387907208
LitVar	rs387907208
Map	rs387907208
PheGenI	rs387907208
Biobank	rs387907208
1000 genomes	rs387907208
hgdp	rs387907208
ensembl	rs387907208
geneview	rs387907208
scholar	rs387907208
google	rs387907208
pharmgkb	rs387907208
gwascentral	rs387907208
openSNP	rs387907208
23andMe	rs387907208
SNPshot	rs387907208
SNPdbe	rs387907208
MSV3d	rs387907208
GWAS Ctlg	rs387907208

Max Magnitude

0

ClinVar
Risk	rs387907208(G;G) rs387907208(T;T)
Alt	rs387907208(G;G) rs387907208(T;T)
Reference	Rs387907208(C;C)
Significance	Pathogenic
Disease	Hypertrichotic osteochondrodysplasia not provided
Variation	info
Gene	ABCC9
CLNDBN	Hypertrichotic osteochondrodysplasia not provided
Reversed	1
HGVS	NC_000012.11:g.21995261G>A; NC_000012.11:g.21995261G>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000024624.3, RCV000254900.1,