rs587777129

Orientation

plus

Stabilized

minus

Geno	Mag	Summary
(A;A)	0	common in clinvar
(T;T)	0	common in clinvar

Make rs587777129(A;G)

Make rs587777129(G;G)

Reference

GRCh38 38.1/142

Chromosome

2

Position

232480203

Gene

ECEL1

is a	snp
is	mentioned by
dbSNP	rs587777129
dbSNP (classic)	rs587777129
ClinGen	rs587777129
ebi	rs587777129
HLI	rs587777129
Exac	rs587777129
Gnomad	rs587777129
Varsome	rs587777129
LitVar	rs587777129
Map	rs587777129
PheGenI	rs587777129
Biobank	rs587777129
1000 genomes	rs587777129
hgdp	rs587777129
ensembl	rs587777129
geneview	rs587777129
scholar	rs587777129
google	rs587777129
pharmgkb	rs587777129
gwascentral	rs587777129
openSNP	rs587777129
23andMe	rs587777129
SNPshot	rs587777129
SNPdbe	rs587777129
MSV3d	rs587777129
GWAS Ctlg	rs587777129

Max Magnitude

0

ClinVar
Risk	Rs587777129(A;A) rs587777129(G;G)
Alt	Rs587777129(A;A) rs587777129(G;G)
Reference	Rs587777129(T;T)
Significance	Pathogenic
Disease	Arthrogryposis
Variation	info
Gene	ECEL1
CLNDBN	Arthrogryposis, distal, type 5d
Reversed	1
HGVS	NC_000002.11:g.233344913A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000087050.4,