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rs387907258

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs387907258(C;T)
Make rs387907258(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position21738827
GeneDNAH11
is asnp
is mentioned by
dbSNPrs387907258
dbSNP (classic)rs387907258
ClinGenrs387907258
ebirs387907258
HLIrs387907258
Exacrs387907258
Gnomadrs387907258
Varsomers387907258
LitVarrs387907258
Maprs387907258
PheGenIrs387907258
Biobankrs387907258
1000 genomesrs387907258
hgdprs387907258
ensemblrs387907258
geneviewrs387907258
scholarrs387907258
googlers387907258
pharmgkbrs387907258
gwascentralrs387907258
openSNPrs387907258
23andMers387907258
SNPshotrs387907258
SNPdbers387907258
MSV3drs387907258
GWAS Ctlgrs387907258
Max Magnitude0
ClinVar
Risk rs387907258(T;T)
Alt rs387907258(T;T)
Reference Rs387907258(C;C)
Significance Pathogenic
Disease Ciliary dyskinesia
Variation info
Gene DNAH11
CLNDBN Ciliary dyskinesia, primary, 7
Reversed 0
HGVS NC_000007.13:g.21778445C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000030677.3,