rs387906556

Orientation

minus

Stabilized

minus

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

Make rs387906556(A;A)

Make rs387906556(A;G)

Reference

GRCh38 38.1/141

Chromosome

6

Position

33172564

Gene

COL11A2

is a	snp
is	mentioned by
dbSNP	rs387906556
dbSNP (classic)	rs387906556
ClinGen	rs387906556
ebi	rs387906556
HLI	rs387906556
Exac	rs387906556
Gnomad	rs387906556
Varsome	rs387906556
LitVar	rs387906556
Map	rs387906556
PheGenI	rs387906556
Biobank	rs387906556
1000 genomes	rs387906556
hgdp	rs387906556
ensembl	rs387906556
geneview	rs387906556
scholar	rs387906556
google	rs387906556
pharmgkb	rs387906556
gwascentral	rs387906556
openSNP	rs387906556
23andMe	rs387906556
SNPshot	rs387906556
SNPdbe	rs387906556
MSV3d	rs387906556
GWAS Ctlg	rs387906556

Max Magnitude

0

ClinVar
Risk	rs387906556(A;A)
Alt	rs387906556(A;A)
Reference	Rs387906556(G;G)
Significance	Pathogenic
Disease	Weissenbacher-Zweymuller syndrome Otospondylomegaepiphyseal dysplasia
Variation	info
Gene
CLNDBN	Weissenbacher-Zweymuller syndrome Otospondylomegaepiphyseal dysplasia, heterozygous
Reversed	1
HGVS	NC_000006.11:g.33140341C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000018660.1, RCV000018661.1,