rs121912944

Orientation

minus

Stabilized

minus

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

Make rs121912944(G;T)

Make rs121912944(T;T)

Reference

GRCh38 38.1/141

Chromosome

1

Position

102962750

Gene

COL11A1

is a	snp
is	mentioned by
dbSNP	rs121912944
dbSNP (classic)	rs121912944
ClinGen	rs121912944
ebi	rs121912944
HLI	rs121912944
Exac	rs121912944
Gnomad	rs121912944
Varsome	rs121912944
LitVar	rs121912944
Map	rs121912944
PheGenI	rs121912944
Biobank	rs121912944
1000 genomes	rs121912944
hgdp	rs121912944
ensembl	rs121912944
geneview	rs121912944
scholar	rs121912944
google	rs121912944
pharmgkb	rs121912944
gwascentral	rs121912944
openSNP	rs121912944
23andMe	rs121912944
SNPshot	rs121912944
SNPdbe	rs121912944
MSV3d	rs121912944
GWAS Ctlg	rs121912944

Max Magnitude

0

OMIM	120280
Desc
Variant	0003
Related	also

ClinVar
Risk	rs121912944(T;T)
Alt	rs121912944(T;T)
Reference	Rs121912944(G;G)
Significance	Pathogenic
Disease	Marshall/Stickler syndrome
Variation	info
Gene	COL11A1
CLNDBN	Marshall/Stickler syndrome
Reversed	1
HGVS	NC_000001.10:g.103428306C>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000018671.28,