rs200487396

Orientation

plus

Stabilized

plus

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

Make rs200487396(A;A)

Make rs200487396(A;G)

Reference

GRCh38.p2 38.2/144

Chromosome

6

Position

75131984

Gene

COL12A1

is a	snp
is	mentioned by
dbSNP	rs200487396
dbSNP (classic)	rs200487396
ClinGen	rs200487396
ebi	rs200487396
HLI	rs200487396
Exac	rs200487396
Gnomad	rs200487396
Varsome	rs200487396
LitVar	rs200487396
Map	rs200487396
PheGenI	rs200487396
Biobank	rs200487396
1000 genomes	rs200487396
hgdp	rs200487396
ensembl	rs200487396
geneview	rs200487396
scholar	rs200487396
google	rs200487396
pharmgkb	rs200487396
gwascentral	rs200487396
openSNP	rs200487396
23andMe	rs200487396
SNPshot	rs200487396
SNPdbe	rs200487396
MSV3d	rs200487396
GWAS Ctlg	rs200487396

Max Magnitude

0

ClinVar
Risk	rs200487396(A;A)
Alt	rs200487396(A;A)
Reference	Rs200487396(G;G)
Significance	Pathogenic
Disease	Bethlem myopathy 2 not specified
Variation	info
Gene	COL12A1
CLNDBN	Bethlem myopathy 2 not specified
Reversed	0
HGVS	NC_000006.11:g.75841700G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000186501.2, RCV000441199.1,