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rs370167241

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs370167241(A;A)
Make rs370167241(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position232484863
GeneECEL1
is asnp
is mentioned by
dbSNPrs370167241
ebirs370167241
HLIrs370167241
Exacrs370167241
Varsomers370167241
Maprs370167241
PheGenIrs370167241
hapmaprs370167241
1000 genomesrs370167241
hgdprs370167241
ensemblrs370167241
gopubmedrs370167241
geneviewrs370167241
scholarrs370167241
googlers370167241
pharmgkbrs370167241
gwascentralrs370167241
openSNPrs370167241
23andMers370167241
23andMe allrs370167241
SNP Nexus

SNPshotrs370167241
SNPdbers370167241
MSV3drs370167241
GWAS Ctlgrs370167241
Max Magnitude0
ClinVar
Risk rs370167241(A;A)
Alt rs370167241(A;A)
Reference rs370167241(G;G)
Significance Pathogenic
Disease Arthrogryposis
Variation info
Gene ECEL1
CLNDBN Arthrogryposis, distal, type 5d
Reversed 0
HGVS NC_000002.11:g.233349573G>A
CLNSRC
CLNACC RCV000192968.1,