rs72650699

Orientation

minus

Stabilized

minus

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

Make rs72650699(C;T)

Make rs72650699(T;T)

Reference

GRCh38 38.1/141

Chromosome

16

Position

16202045

Gene

ABCC6

is a	snp
is	mentioned by
dbSNP	rs72650699
dbSNP (classic)	rs72650699
ClinGen	rs72650699
ebi	rs72650699
HLI	rs72650699
Exac	rs72650699
Gnomad	rs72650699
Varsome	rs72650699
LitVar	rs72650699
Map	rs72650699
PheGenI	rs72650699
Biobank	rs72650699
1000 genomes	rs72650699
hgdp	rs72650699
ensembl	rs72650699
geneview	rs72650699
scholar	rs72650699
google	rs72650699
pharmgkb	rs72650699
gwascentral	rs72650699
openSNP	rs72650699
23andMe	rs72650699
SNPshot	rs72650699
SNPdbe	rs72650699
MSV3d	rs72650699
GWAS Ctlg	rs72650699

Max Magnitude

0

ClinVar
Risk	rs72650699(T;T)
Alt	rs72650699(T;T)
Reference	Rs72650699(C;C)
Significance	Pathogenic
Disease	not provided
Variation	info
Gene	ABCC6
CLNDBN	not provided
Reversed	1
HGVS	NC_000016.9:g.16295902G>A
CLNSRC
CLNACC	RCV000413373.1,

[PMID 11702217] Identification of ABCC6 pseudogenes on human chromosome 16p: implications for mutation detection in pseudoxanthoma elasticum.