rs387907064

Orientation

plus

Stabilized

plus

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

Make rs387907064(A;A)

Make rs387907064(A;G)

Reference

GRCh38 38.1/141

Chromosome

9

Position

133537529

Gene

ADAMTSL2

is a	snp
is	mentioned by
dbSNP	rs387907064
dbSNP (classic)	rs387907064
ClinGen	rs387907064
ebi	rs387907064
HLI	rs387907064
Exac	rs387907064
Gnomad	rs387907064
Varsome	rs387907064
LitVar	rs387907064
Map	rs387907064
PheGenI	rs387907064
Biobank	rs387907064
1000 genomes	rs387907064
hgdp	rs387907064
ensembl	rs387907064
geneview	rs387907064
scholar	rs387907064
google	rs387907064
pharmgkb	rs387907064
gwascentral	rs387907064
openSNP	rs387907064
23andMe	rs387907064
SNPshot	rs387907064
SNPdbe	rs387907064
MSV3d	rs387907064
GWAS Ctlg	rs387907064

Max Magnitude

0

ClinVar
Risk	rs387907064(A;A)
Alt	rs387907064(A;A)
Reference	Rs387907064(G;G)
Significance	Pathogenic
Disease	Geleophysic dysplasia 1
Variation	info
Gene	ADAMTSL2
CLNDBN	Geleophysic dysplasia 1
Reversed	0
HGVS	NC_000009.11:g.136402651G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000023933.2,