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rs118203965

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs118203965(A;T)
Make rs118203965(T;T)
ReferenceGRCh38 38.1/141
Chromosome20
Position33850969
GeneCHMP4B
is asnp
is mentioned by
dbSNPrs118203965
dbSNP (classic)rs118203965
ClinGenrs118203965
ebirs118203965
HLIrs118203965
Exacrs118203965
Gnomadrs118203965
Varsomers118203965
LitVarrs118203965
Maprs118203965
PheGenIrs118203965
Biobankrs118203965
1000 genomesrs118203965
hgdprs118203965
ensemblrs118203965
geneviewrs118203965
scholarrs118203965
googlers118203965
pharmgkbrs118203965
gwascentralrs118203965
openSNPrs118203965
23andMers118203965
SNPshotrs118203965
SNPdbers118203965
MSV3drs118203965
GWAS Ctlgrs118203965
Max Magnitude0
OMIM610897
Desc
Variant0001
Relatedalso
ClinVar
Risk rs118203965(T;T)
Alt rs118203965(T;T)
Reference Rs118203965(A;A)
Significance Pathogenic
Disease Cataract
Variation info
Gene CHMP4B
CLNDBN Cataract, posterior polar, 3
Reversed 0
HGVS NC_000020.10:g.32438775A>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000001143.3,