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rs748688175

From SNPedia

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Geno Mag Summary
(C;C) 0 common in clinvar
Make rs748688175(A;A)
Make rs748688175(A;C)
ReferenceGRCh38.p2 38.2/146
Chromosome16
Position90037764
GeneGAS8
is asnp
is mentioned by
dbSNPrs748688175
ebirs748688175
HLIrs748688175
Exacrs748688175
Varsomers748688175
Maprs748688175
PheGenIrs748688175
hapmaprs748688175
1000 genomesrs748688175
hgdprs748688175
ensemblrs748688175
gopubmedrs748688175
geneviewrs748688175
scholarrs748688175
googlers748688175
pharmgkbrs748688175
gwascentralrs748688175
openSNPrs748688175
23andMers748688175
23andMe allrs748688175
SNP Nexus

SNPshotrs748688175
SNPdbers748688175
MSV3drs748688175
GWAS Ctlgrs748688175
Max Magnitude0
ClinVar
Risk rs748688175(A,T;A,T)
Alt rs748688175(A,T;A,T)
Reference rs748688175(C;C)
Significance Pathogenic
Disease Ciliary dyskinesia
Variation info
Gene GAS8
CLNDBN Ciliary dyskinesia, primary, 33
Reversed 0
HGVS NC_000016.9:g.90104172C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000203519.1,