rs370167241

Orientation

plus

Stabilized

plus

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

Make rs370167241(A;A)

Make rs370167241(A;G)

Reference

GRCh38.p2 38.2/146

Chromosome

2

Position

232484863

Gene

ECEL1

is a	snp
is	mentioned by
dbSNP	rs370167241
dbSNP (classic)	rs370167241
ClinGen	rs370167241
ebi	rs370167241
HLI	rs370167241
Exac	rs370167241
Gnomad	rs370167241
Varsome	rs370167241
LitVar	rs370167241
Map	rs370167241
PheGenI	rs370167241
Biobank	rs370167241
1000 genomes	rs370167241
hgdp	rs370167241
ensembl	rs370167241
geneview	rs370167241
scholar	rs370167241
google	rs370167241
pharmgkb	rs370167241
gwascentral	rs370167241
openSNP	rs370167241
23andMe	rs370167241
SNPshot	rs370167241
SNPdbe	rs370167241
MSV3d	rs370167241
GWAS Ctlg	rs370167241

Max Magnitude

0

ClinVar
Risk	rs370167241(A;A)
Alt	rs370167241(A;A)
Reference	Rs370167241(G;G)
Significance	Pathogenic
Disease	Arthrogryposis not provided
Variation	info
Gene	ECEL1
CLNDBN	Arthrogryposis, distal, type 5d not provided
Reversed	0
HGVS	NC_000002.11:g.233349573G>A
CLNSRC
CLNACC	RCV000192968.1, RCV000478078.1,