rs149830493

Orientation

plus

Stabilized

plus

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

Make rs149830493(A;T)

Make rs149830493(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

6

Position

70281388

Gene

COL9A1

is a	snp
is	mentioned by
dbSNP	rs149830493
dbSNP (classic)	rs149830493
ClinGen	rs149830493
ebi	rs149830493
HLI	rs149830493
Exac	rs149830493
Gnomad	rs149830493
Varsome	rs149830493
LitVar	rs149830493
Map	rs149830493
PheGenI	rs149830493
Biobank	rs149830493
1000 genomes	rs149830493
hgdp	rs149830493
ensembl	rs149830493
geneview	rs149830493
scholar	rs149830493
google	rs149830493
pharmgkb	rs149830493
gwascentral	rs149830493
openSNP	rs149830493
23andMe	rs149830493
SNPshot	rs149830493
SNPdbe	rs149830493
MSV3d	rs149830493
GWAS Ctlg	rs149830493

Max Magnitude

0

ClinVar
Risk	rs149830493(T;T)
Alt	rs149830493(T;T)
Reference	Rs149830493(A;A)
Significance	Pathogenic
Disease	Multiple epiphyseal dysplasia 6
Variation	info
Gene	COL9A1
CLNDBN	Multiple epiphyseal dysplasia 6
Reversed	0
HGVS	NC_000006.11:g.70991091A>T
CLNSRC
CLNACC	RCV000415246.1,