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rs606231471

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs606231471(A;A)
Make rs606231471(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position232481123
GeneECEL1
is asnp
is mentioned by
dbSNPrs606231471
ebirs606231471
HLIrs606231471
Exacrs606231471
Varsomers606231471
Maprs606231471
PheGenIrs606231471
hapmaprs606231471
1000 genomesrs606231471
hgdprs606231471
ensemblrs606231471
gopubmedrs606231471
geneviewrs606231471
scholarrs606231471
googlers606231471
pharmgkbrs606231471
gwascentralrs606231471
openSNPrs606231471
23andMers606231471
23andMe allrs606231471
SNP Nexus

SNPshotrs606231471
SNPdbers606231471
MSV3drs606231471
GWAS Ctlgrs606231471
Max Magnitude0
ClinVar
Risk rs606231471(A,T;A,T)
Alt rs606231471(A,T;A,T)
Reference rs606231471(G;G)
Significance Pathogenic
Disease Arthrogryposis
Variation info
Gene ECEL1
CLNDBN Arthrogryposis, distal, type 5d
Reversed 1
HGVS NC_000002.11:g.233345833C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000148953.4,