rs113994125

Orientation

plus

Stabilized

plus

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

Make rs113994125(A;A)

Make rs113994125(A;G)

Reference

GRCh38 38.1/141

Chromosome

9

Position

133570501

Gene

ADAMTSL2

is a	snp
is	mentioned by
dbSNP	rs113994125
dbSNP (classic)	rs113994125
ClinGen	rs113994125
ebi	rs113994125
HLI	rs113994125
Exac	rs113994125
Gnomad	rs113994125
Varsome	rs113994125
LitVar	rs113994125
Map	rs113994125
PheGenI	rs113994125
Biobank	rs113994125
1000 genomes	rs113994125
hgdp	rs113994125
ensembl	rs113994125
geneview	rs113994125
scholar	rs113994125
google	rs113994125
pharmgkb	rs113994125
gwascentral	rs113994125
openSNP	rs113994125
23andMe	rs113994125
SNPshot	rs113994125
SNPdbe	rs113994125
MSV3d	rs113994125
GWAS Ctlg	rs113994125

Max Magnitude

0

OMIM	612277
Desc
Variant	0005
Related	also

ClinVar
Risk	rs113994125(A;A)
Alt	rs113994125(A;A)
Reference	Rs113994125(G;G)
Significance	Pathogenic
Disease	Geleophysic dysplasia 1
Variation	info
Gene	ADAMTSL2
CLNDBN	Geleophysic dysplasia 1
Reversed	0
HGVS	NC_000009.11:g.136435623G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000000732.1,