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rs200913791

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs200913791(A;G)
Make rs200913791(G;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position50342473
GeneRASSF1, ZMYND10
is asnp
is mentioned by
dbSNPrs200913791
dbSNP (classic)rs200913791
ClinGenrs200913791
ebirs200913791
HLIrs200913791
Exacrs200913791
Gnomadrs200913791
Varsomers200913791
LitVarrs200913791
Maprs200913791
PheGenIrs200913791
Biobankrs200913791
1000 genomesrs200913791
hgdprs200913791
ensemblrs200913791
geneviewrs200913791
scholarrs200913791
googlers200913791
pharmgkbrs200913791
gwascentralrs200913791
openSNPrs200913791
23andMers200913791
SNPshotrs200913791
SNPdbers200913791
MSV3drs200913791
GWAS Ctlgrs200913791
Max Magnitude0
ClinVar
Risk rs200913791(G;G)
Alt rs200913791(G;G)
Reference Rs200913791(A;A)
Significance Pathogenic
Disease Ciliary dyskinesia Kartagener syndrome Primary ciliary dyskinesia
Variation info
Gene ZMYND10 RASSF1
CLNDBN Ciliary dyskinesia, primary, 22 Kartagener syndrome Primary ciliary dyskinesia
Reversed 0
HGVS NC_000003.11:g.50379904A>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000056269.3, RCV000190920.1, RCV000468778.1,