rs113994124

Orientation

plus

Stabilized

plus

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

Make rs113994124(A;A)

Make rs113994124(A;G)

Reference

GRCh38 38.1/141

Chromosome

9

Position

133570346

Gene

ADAMTSL2

is a	snp
is	mentioned by
dbSNP	rs113994124
dbSNP (classic)	rs113994124
ClinGen	rs113994124
ebi	rs113994124
HLI	rs113994124
Exac	rs113994124
Gnomad	rs113994124
Varsome	rs113994124
LitVar	rs113994124
Map	rs113994124
PheGenI	rs113994124
Biobank	rs113994124
1000 genomes	rs113994124
hgdp	rs113994124
ensembl	rs113994124
geneview	rs113994124
scholar	rs113994124
google	rs113994124
pharmgkb	rs113994124
gwascentral	rs113994124
openSNP	rs113994124
23andMe	rs113994124
SNPshot	rs113994124
SNPdbe	rs113994124
MSV3d	rs113994124
GWAS Ctlg	rs113994124

Max Magnitude

0

OMIM	612277
Desc
Variant	0004
Related	also

ClinVar
Risk	rs113994124(A;A)
Alt	rs113994124(A;A)
Reference	Rs113994124(G;G)
Significance	Pathogenic
Disease	Geleophysic dysplasia 1
Variation	info
Gene	ADAMTSL2
CLNDBN	Geleophysic dysplasia 1
Reversed	0
HGVS	NC_000009.11:g.136435468G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000000731.1,