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rs775263897

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs775263897(-;-)
Make rs775263897(-;C)
Make rs775263897(C;C)
ReferenceGRCh38.p2 38.2/146
Chromosome5
Position37148216
GeneC5orf42
is asnp
is mentioned by
dbSNPrs775263897
ebirs775263897
HLIrs775263897
Exacrs775263897
Varsomers775263897
Maprs775263897
PheGenIrs775263897
hapmaprs775263897
1000 genomesrs775263897
hgdprs775263897
ensemblrs775263897
gopubmedrs775263897
geneviewrs775263897
scholarrs775263897
googlers775263897
pharmgkbrs775263897
gwascentralrs775263897
openSNPrs775263897
23andMers775263897
23andMe allrs775263897
SNP Nexus

SNPshotrs775263897
SNPdbers775263897
MSV3drs775263897
GWAS Ctlgrs775263897
Max Magnitude0
ClinVar
Risk rs775263897(GC,GT;GC,GT)
Alt rs775263897(GC,GT;GC,GT)
Reference rs775263897(G;G)
Significance Pathogenic
Disease Joubert syndrome 17
Variation info
Gene C5orf42
CLNDBN Joubert syndrome 17
Reversed 0
HGVS NC_000005.9:g.37148318_37148319insC; NC_000005.9:g.37148319dupT
CLNSRC
CLNACC RCV000201534.1, RCV000201730.1,