rs387907227

Orientation

minus

Stabilized

minus

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

Make rs387907227(A;A)

Make rs387907227(A;G)

Reference

GRCh38 38.1/141

Chromosome

12

Position

21842440

Gene

ABCC9

is a	snp
is	mentioned by
dbSNP	rs387907227
dbSNP (classic)	rs387907227
ClinGen	rs387907227
ebi	rs387907227
HLI	rs387907227
Exac	rs387907227
Gnomad	rs387907227
Varsome	rs387907227
LitVar	rs387907227
Map	rs387907227
PheGenI	rs387907227
Biobank	rs387907227
1000 genomes	rs387907227
hgdp	rs387907227
ensembl	rs387907227
geneview	rs387907227
scholar	rs387907227
google	rs387907227
pharmgkb	rs387907227
gwascentral	rs387907227
openSNP	rs387907227
23andMe	rs387907227
SNPshot	rs387907227
SNPdbe	rs387907227
MSV3d	rs387907227
GWAS Ctlg	rs387907227

Max Magnitude

0

ClinVar
Risk	rs387907227(A;A) rs387907227(T;T)
Alt	rs387907227(A;A) rs387907227(T;T)
Reference	Rs387907227(G;G)
Significance	Pathogenic
Disease	not provided Hypertrichotic osteochondrodysplasia
Variation	info
Gene	ABCC9
CLNDBN	not provided Hypertrichotic osteochondrodysplasia
Reversed	1
HGVS	NC_000012.11:g.21995374C>A; NC_000012.11:g.21995374C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000426515.1, RCV000029188.2,