rs113994121

Orientation

plus

Stabilized

plus

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

Make rs113994121(C;T)

Make rs113994121(T;T)

Reference

GRCh38 38.1/141

Chromosome

9

Position

133540625

Gene

ADAMTSL2

is a	snp
is	mentioned by
dbSNP	rs113994121
dbSNP (classic)	rs113994121
ClinGen	rs113994121
ebi	rs113994121
HLI	rs113994121
Exac	rs113994121
Gnomad	rs113994121
Varsome	rs113994121
LitVar	rs113994121
Map	rs113994121
PheGenI	rs113994121
Biobank	rs113994121
1000 genomes	rs113994121
hgdp	rs113994121
ensembl	rs113994121
geneview	rs113994121
scholar	rs113994121
google	rs113994121
pharmgkb	rs113994121
gwascentral	rs113994121
openSNP	rs113994121
23andMe	rs113994121
SNPshot	rs113994121
SNPdbe	rs113994121
MSV3d	rs113994121
GWAS Ctlg	rs113994121

Max Magnitude

0

OMIM	612277
Desc
Variant	0001
Related	also

ClinVar
Risk	rs113994121(T;T)
Alt	rs113994121(T;T)
Reference	Rs113994121(C;C)
Significance	Pathogenic
Disease	Geleophysic dysplasia 1
Variation	info
Gene	ADAMTSL2
CLNDBN	Geleophysic dysplasia 1
Reversed	0
HGVS	NC_000009.11:g.136405747C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000000728.1,