rs121912946

Orientation

minus

Stabilized

minus

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

Make rs121912946(A;A)

Make rs121912946(A;G)

Reference

GRCh38 38.1/141

Chromosome

6

Position

33166736

Gene

COL11A2

is a	snp
is	mentioned by
dbSNP	rs121912946
dbSNP (classic)	rs121912946
ClinGen	rs121912946
ebi	rs121912946
HLI	rs121912946
Exac	rs121912946
Gnomad	rs121912946
Varsome	rs121912946
LitVar	rs121912946
Map	rs121912946
PheGenI	rs121912946
Biobank	rs121912946
1000 genomes	rs121912946
hgdp	rs121912946
ensembl	rs121912946
geneview	rs121912946
scholar	rs121912946
google	rs121912946
pharmgkb	rs121912946
gwascentral	rs121912946
openSNP	rs121912946
23andMe	rs121912946
SNPshot	rs121912946
SNPdbe	rs121912946
MSV3d	rs121912946
GWAS Ctlg	rs121912946

Max Magnitude

0

OMIM	120290
Desc
Variant	0004
Related	also

ClinVar
Risk	rs121912946(A;A)
Alt	rs121912946(A;A)
Reference	Rs121912946(G;G)
Significance	Pathogenic
Disease	Weissenbacher-Zweymuller syndrome
Variation	info
Gene	COL11A2
CLNDBN	Weissenbacher-Zweymuller syndrome
Reversed	1
HGVS	NC_000006.11:g.33134513C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000018660.28,