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rs137853191

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137853191(A;A)
Make rs137853191(A;C)
ReferenceGRCh38 38.1/141
Chromosome14
Position49635127
GeneC14orf104
is asnp
is mentioned by
dbSNPrs137853191
ebirs137853191
HLIrs137853191
Exacrs137853191
Varsomers137853191
Maprs137853191
PheGenIrs137853191
hapmaprs137853191
1000 genomesrs137853191
hgdprs137853191
ensemblrs137853191
gopubmedrs137853191
geneviewrs137853191
scholarrs137853191
googlers137853191
pharmgkbrs137853191
gwascentralrs137853191
openSNPrs137853191
23andMers137853191
23andMe allrs137853191
SNP Nexus

SNPshotrs137853191
SNPdbers137853191
MSV3drs137853191
GWAS Ctlgrs137853191
Max Magnitude0
OMIM612517
Desc
Variant0002
Relatedalso
ClinVar
Risk rs137853191(A,T;A,T)
Alt rs137853191(A,T;A,T)
Reference rs137853191(C;C)
Significance Pathogenic
Disease Ciliary dyskinesia Kartagener syndrome
Variation info
Gene DNAAF2
CLNDBN Ciliary dyskinesia, primary, 10 Kartagener syndrome
Reversed 1
HGVS NC_000014.8:g.50101845G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000000559.5, RCV000190866.1,