rs72659361

Orientation

plus

Stabilized

plus

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

Make rs72659361(C;T)

Make rs72659361(T;T)

Reference

GRCh38 38.1/141

Chromosome

3

Position

33129971

Gene

CRTAP

is a	snp
is	mentioned by
dbSNP	rs72659361
dbSNP (classic)	rs72659361
ClinGen	rs72659361
ebi	rs72659361
HLI	rs72659361
Exac	rs72659361
Gnomad	rs72659361
Varsome	rs72659361
LitVar	rs72659361
Map	rs72659361
PheGenI	rs72659361
Biobank	rs72659361
1000 genomes	rs72659361
hgdp	rs72659361
ensembl	rs72659361
geneview	rs72659361
scholar	rs72659361
google	rs72659361
pharmgkb	rs72659361
gwascentral	rs72659361
openSNP	rs72659361
23andMe	rs72659361
SNPshot	rs72659361
SNPdbe	rs72659361
MSV3d	rs72659361
GWAS Ctlg	rs72659361

GMAF

0.0004591

Max Magnitude

0

OMIM	605497
Desc
Variant	0004
Related	also

ClinVar
Risk	rs72659361(T;T)
Alt	rs72659361(T;T)
Reference	Rs72659361(C;C)
Significance	Pathogenic
Disease	Osteogenesis imperfecta type 7
Variation	info
Gene	CRTAP
CLNDBN	Osteogenesis imperfecta type 7
Reversed	0
HGVS	NC_000003.11:g.33171463C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000005238.5,