rs119103290

Orientation

minus

Stabilized

minus

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

Make rs119103290(C;T)

Make rs119103290(T;T)

Reference

GRCh38 38.1/141

Chromosome

8

Position

117837146

Gene

EXT1

is a	snp
is	mentioned by
dbSNP	rs119103290
dbSNP (classic)	rs119103290
ClinGen	rs119103290
ebi	rs119103290
HLI	rs119103290
Exac	rs119103290
Gnomad	rs119103290
Varsome	rs119103290
LitVar	rs119103290
Map	rs119103290
PheGenI	rs119103290
Biobank	rs119103290
1000 genomes	rs119103290
hgdp	rs119103290
ensembl	rs119103290
geneview	rs119103290
scholar	rs119103290
google	rs119103290
pharmgkb	rs119103290
gwascentral	rs119103290
openSNP	rs119103290
23andMe	rs119103290
SNPshot	rs119103290
SNPdbe	rs119103290
MSV3d	rs119103290
GWAS Ctlg	rs119103290

Max Magnitude

0

OMIM	608177
Desc
Variant	0009
Related	also

ClinVar
Risk	rs119103290(T;T)
Alt	rs119103290(T;T)
Reference	Rs119103290(C;C)
Significance	Pathogenic
Disease	Multiple congenital exostosis not provided
Variation	info
Gene	EXT1
CLNDBN	Multiple congenital exostosis not provided
Reversed	1
HGVS	NC_000008.10:g.118849385G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000002606.2, RCV000255752.1,