rs397514455

Orientation

minus

Stabilized

minus

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

Make rs397514455(C;C)

Make rs397514455(C;G)

Reference

GRCh38 38.1/141

Chromosome

1

Position

102946884

Gene

COL11A1

is a	snp
is	mentioned by
dbSNP	rs397514455
dbSNP (classic)	rs397514455
ClinGen	rs397514455
ebi	rs397514455
HLI	rs397514455
Exac	rs397514455
Gnomad	rs397514455
Varsome	rs397514455
LitVar	rs397514455
Map	rs397514455
PheGenI	rs397514455
Biobank	rs397514455
1000 genomes	rs397514455
hgdp	rs397514455
ensembl	rs397514455
geneview	rs397514455
scholar	rs397514455
google	rs397514455
pharmgkb	rs397514455
gwascentral	rs397514455
openSNP	rs397514455
23andMe	rs397514455
SNPshot	rs397514455
SNPdbe	rs397514455
MSV3d	rs397514455
GWAS Ctlg	rs397514455

Max Magnitude

0

ClinVar
Risk	rs397514455(C;C)
Alt	rs397514455(C;C)
Reference	Rs397514455(G;G)
Significance	Pathogenic
Disease	Fibrochondrogenesis
Variation	info
Gene	COL11A1
CLNDBN	Fibrochondrogenesis
Reversed	1
HGVS	NC_000001.10:g.103412440C>G
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000022495.24,