rs119103287

Orientation

minus

Stabilized

minus

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

Make rs119103287(G;T)

Make rs119103287(T;T)

Reference

GRCh38 38.1/141

Chromosome

8

Position

117837145

Gene

EXT1

is a	snp
is	mentioned by
dbSNP	rs119103287
dbSNP (classic)	rs119103287
ClinGen	rs119103287
ebi	rs119103287
HLI	rs119103287
Exac	rs119103287
Gnomad	rs119103287
Varsome	rs119103287
LitVar	rs119103287
Map	rs119103287
PheGenI	rs119103287
Biobank	rs119103287
1000 genomes	rs119103287
hgdp	rs119103287
ensembl	rs119103287
geneview	rs119103287
scholar	rs119103287
google	rs119103287
pharmgkb	rs119103287
gwascentral	rs119103287
openSNP	rs119103287
23andMe	rs119103287
SNPshot	rs119103287
SNPdbe	rs119103287
MSV3d	rs119103287
GWAS Ctlg	rs119103287

Max Magnitude

0

OMIM	608177
Desc
Variant	0004
Related	also

ClinVar
Risk	rs119103287(A;A) rs119103287(T;T)
Alt	rs119103287(A;A) rs119103287(T;T)
Reference	Rs119103287(G;G)
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.118849384C>A; NC_000008.10:g.118849384C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000002601.2, RCV000254839.1,