rs121912880

minus

Geno	Mag	Summary
(A;G)	5	Spondylometaphyseal dysplasia possible
(G;G)	0	common in clinvar
(G;T)	5	Spondylometaphyseal dysplasia possible

Make rs121912880(T;T)

Reference

GRCh38 38.1/141

Chromosome

12

Position

47986353

Gene

COL2A1

is a	snp
is	mentioned by
dbSNP	rs121912880
dbSNP (classic)	rs121912880
ClinGen	rs121912880
ebi	rs121912880
HLI	rs121912880
Exac	rs121912880
Gnomad	rs121912880
Varsome	rs121912880
LitVar	rs121912880
Map	rs121912880
PheGenI	rs121912880
Biobank	rs121912880
1000 genomes	rs121912880
hgdp	rs121912880
ensembl	rs121912880
geneview	rs121912880
scholar	rs121912880
google	rs121912880
pharmgkb	rs121912880
gwascentral	rs121912880
openSNP	rs121912880
23andMe	rs121912880
SNPshot	rs121912880
SNPdbe	rs121912880
MSV3d	rs121912880
GWAS Ctlg	rs121912880

Max Magnitude

5

aka c.1510G>A (p.Gly504Ser or G504S), also c.1510G>T (p.Gly504Cys or G504C); both are considered in ClinVar as dominantly inherited mutations pathogenic for Spondylometaphyseal dysplasia and/or Stickler syndrome type I

OMIM	120140
Desc
Variant	0027
Related	also

ClinVar
Risk	rs121912880(A;A) rs121912880(T;T)
Alt	rs121912880(A;A) rs121912880(T;T)
Reference	Rs121912880(G;G)
Significance	Pathogenic
Disease	Spondyloepimetaphyseal dysplasia Strudwick type Stickler syndrome type 1 Spondyloepiphyseal dysplasia congenita
Variation	info
Gene	COL2A1
CLNDBN	Spondyloepimetaphyseal dysplasia Strudwick type Stickler syndrome type 1 Spondyloepiphyseal dysplasia congenita
Reversed	1
HGVS	NC_000012.11:g.48380136C>A; NC_000012.11:g.48380136C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000018920.28, RCV000380315.1, RCV000176384.1, RCV000176385.1, RCV000282433.1,