rs113994123

Orientation

plus

Stabilized

plus

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

Make rs113994123(A;A)

Make rs113994123(A;G)

Reference

GRCh38 38.1/141

Chromosome

9

Position

133539801

Gene

ADAMTSL2

is a	snp
is	mentioned by
dbSNP	rs113994123
dbSNP (classic)	rs113994123
ClinGen	rs113994123
ebi	rs113994123
HLI	rs113994123
Exac	rs113994123
Gnomad	rs113994123
Varsome	rs113994123
LitVar	rs113994123
Map	rs113994123
PheGenI	rs113994123
Biobank	rs113994123
1000 genomes	rs113994123
hgdp	rs113994123
ensembl	rs113994123
geneview	rs113994123
scholar	rs113994123
google	rs113994123
pharmgkb	rs113994123
gwascentral	rs113994123
openSNP	rs113994123
23andMe	rs113994123
SNPshot	rs113994123
SNPdbe	rs113994123
MSV3d	rs113994123
GWAS Ctlg	rs113994123

Max Magnitude

0

OMIM	612277
Desc
Variant	0003
Related	also

ClinVar
Risk	rs113994123(A;A)
Alt	rs113994123(A;A)
Reference	Rs113994123(G;G)
Significance	Pathogenic
Disease	Geleophysic dysplasia 1
Variation	info
Gene	ADAMTSL2
CLNDBN	Geleophysic dysplasia 1
Reversed	0
HGVS	NC_000009.11:g.136404923G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000000730.1,