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rs749523755

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs749523755(A;T)
Make rs749523755(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome5
Position37157810
GeneC5orf42
is asnp
is mentioned by
dbSNPrs749523755
ebirs749523755
HLIrs749523755
Exacrs749523755
Varsomers749523755
Maprs749523755
PheGenIrs749523755
hapmaprs749523755
1000 genomesrs749523755
hgdprs749523755
ensemblrs749523755
gopubmedrs749523755
geneviewrs749523755
scholarrs749523755
googlers749523755
pharmgkbrs749523755
gwascentralrs749523755
openSNPrs749523755
23andMers749523755
23andMe allrs749523755
SNP Nexus

SNPshotrs749523755
SNPdbers749523755
MSV3drs749523755
GWAS Ctlgrs749523755
Max Magnitude0
ClinVar
Risk rs749523755(T;T)
Alt rs749523755(T;T)
Reference rs749523755(A;A)
Significance Pathogenic
Disease Joubert syndrome 17
Variation info
Gene C5orf42
CLNDBN Joubert syndrome 17
Reversed 0
HGVS NC_000005.9:g.37157912A>T
CLNSRC
CLNACC RCV000201773.1,