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rs387906243

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs387906243(-;-)
Make rs387906243(-;A)
ReferenceGRCh38 38.1/141
Chromosome16
Position53648999
GeneRPGRIP1L
is asnp
is mentioned by
dbSNPrs387906243
ebirs387906243
HLIrs387906243
Exacrs387906243
Varsomers387906243
Maprs387906243
PheGenIrs387906243
hapmaprs387906243
1000 genomesrs387906243
hgdprs387906243
ensemblrs387906243
gopubmedrs387906243
geneviewrs387906243
scholarrs387906243
googlers387906243
pharmgkbrs387906243
gwascentralrs387906243
openSNPrs387906243
23andMers387906243
23andMe allrs387906243
SNP Nexus

SNPshotrs387906243
SNPdbers387906243
MSV3drs387906243
GWAS Ctlgrs387906243
Max Magnitude0
ClinVar
Risk rs387906243(;)
Alt rs387906243(;)
Reference rs387906243(A;A)
Significance Pathogenic
Disease Joubert syndrome 7
Variation info
Gene RPGRIP1L
CLNDBN Joubert syndrome 7
Reversed 1
HGVS NC_000016.9:g.53682911delT
CLNSRC OMIM Allelic Variant
CLNACC RCV000001132.3,