rs587776921

Orientation

plus

Stabilized

plus

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

Make rs587776921(C;T)

Make rs587776921(T;T)

Reference

GRCh38 38.1/142

Chromosome

2

Position

232486064

Gene

ECEL1

is a	snp
is	mentioned by
dbSNP	rs587776921
dbSNP (classic)	rs587776921
ClinGen	rs587776921
ebi	rs587776921
HLI	rs587776921
Exac	rs587776921
Gnomad	rs587776921
Varsome	rs587776921
LitVar	rs587776921
Map	rs587776921
PheGenI	rs587776921
Biobank	rs587776921
1000 genomes	rs587776921
hgdp	rs587776921
ensembl	rs587776921
geneview	rs587776921
scholar	rs587776921
google	rs587776921
pharmgkb	rs587776921
gwascentral	rs587776921
openSNP	rs587776921
23andMe	rs587776921
SNPshot	rs587776921
SNPdbe	rs587776921
MSV3d	rs587776921
GWAS Ctlg	rs587776921

Max Magnitude

0

ClinVar
Risk	rs587776921(T;T)
Alt	rs587776921(T;T)
Reference	Rs587776921(C;C)
Significance	Pathogenic
Disease	Arthrogryposis
Variation	info
Gene	ECEL1
CLNDBN	Arthrogryposis, distal, type 5d
Reversed	0
HGVS	NC_000002.11:g.233350774C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000032689.3, RCV000224367.1,