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rs200321595

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs200321595(C;G)
Make rs200321595(G;G)
ReferenceGRCh38 38.1/142
Chromosome8
Position132632957
GeneLRRC6
is asnp
is mentioned by
dbSNPrs200321595
dbSNP (classic)rs200321595
ClinGenrs200321595
ebirs200321595
HLIrs200321595
Exacrs200321595
Gnomadrs200321595
Varsomers200321595
LitVarrs200321595
Maprs200321595
PheGenIrs200321595
Biobankrs200321595
1000 genomesrs200321595
hgdprs200321595
ensemblrs200321595
geneviewrs200321595
scholarrs200321595
googlers200321595
pharmgkbrs200321595
gwascentralrs200321595
openSNPrs200321595
23andMers200321595
SNPshotrs200321595
SNPdbers200321595
MSV3drs200321595
GWAS Ctlgrs200321595
Max Magnitude0
ClinVar
Risk rs200321595(G;G)
Alt rs200321595(G;G)
Reference Rs200321595(C;C)
Significance Pathogenic
Disease Ciliary dyskinesia
Variation info
Gene LRRC6
CLNDBN Ciliary dyskinesia, primary, 19
Reversed 0
HGVS NC_000008.10:g.133645203C>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000033020.4,