rs387907065

Orientation

plus

Stabilized

plus

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

Make rs387907065(C;T)

Make rs387907065(T;T)

Reference

GRCh38 38.1/141

Chromosome

9

Position

133540980

Gene

ADAMTSL2

is a	snp
is	mentioned by
dbSNP	rs387907065
dbSNP (classic)	rs387907065
ClinGen	rs387907065
ebi	rs387907065
HLI	rs387907065
Exac	rs387907065
Gnomad	rs387907065
Varsome	rs387907065
LitVar	rs387907065
Map	rs387907065
PheGenI	rs387907065
Biobank	rs387907065
1000 genomes	rs387907065
hgdp	rs387907065
ensembl	rs387907065
geneview	rs387907065
scholar	rs387907065
google	rs387907065
pharmgkb	rs387907065
gwascentral	rs387907065
openSNP	rs387907065
23andMe	rs387907065
SNPshot	rs387907065
SNPdbe	rs387907065
MSV3d	rs387907065
GWAS Ctlg	rs387907065

Max Magnitude

0

ClinVar
Risk	rs387907065(T;T)
Alt	rs387907065(T;T)
Reference	Rs387907065(C;C)
Significance	Pathogenic
Disease	Geleophysic dysplasia 1
Variation	info
Gene	ADAMTSL2
CLNDBN	Geleophysic dysplasia 1
Reversed	0
HGVS	NC_000009.11:g.136406102C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000023934.2,