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rs765430577

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs765430577(A;A)
Make rs765430577(A;C)
ReferenceGRCh38.p2 38.2/147
Chromosome2
Position232484472
GeneECEL1
is asnp
is mentioned by
dbSNPrs765430577
ebirs765430577
HLIrs765430577
Exacrs765430577
Varsomers765430577
Maprs765430577
PheGenIrs765430577
hapmaprs765430577
1000 genomesrs765430577
hgdprs765430577
ensemblrs765430577
gopubmedrs765430577
geneviewrs765430577
scholarrs765430577
googlers765430577
pharmgkbrs765430577
gwascentralrs765430577
openSNPrs765430577
23andMers765430577
23andMe allrs765430577
SNP Nexus

SNPshotrs765430577
SNPdbers765430577
MSV3drs765430577
GWAS Ctlgrs765430577
Max Magnitude0
ClinVar
Risk rs765430577(A;A)
Alt rs765430577(A;A)
Reference rs765430577(C;C)
Significance Pathogenic
Disease Arthrogryposis
Variation info
Gene ECEL1
CLNDBN Arthrogryposis, distal, type 5d
Reversed 0
HGVS NC_000002.11:g.233349182C>T
CLNSRC
CLNACC RCV000224050.1,