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rs386833997

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs386833997(A;C)
Make rs386833997(C;C)
ReferenceGRCh38 38.1/141
Chromosome16
Position53652858
GeneRPGRIP1L
is asnp
is mentioned by
dbSNPrs386833997
ebirs386833997
HLIrs386833997
Exacrs386833997
Varsomers386833997
Maprs386833997
PheGenIrs386833997
hapmaprs386833997
1000 genomesrs386833997
hgdprs386833997
ensemblrs386833997
gopubmedrs386833997
geneviewrs386833997
scholarrs386833997
googlers386833997
pharmgkbrs386833997
gwascentralrs386833997
openSNPrs386833997
23andMers386833997
23andMe allrs386833997
SNP Nexus

SNPshotrs386833997
SNPdbers386833997
MSV3drs386833997
GWAS Ctlgrs386833997
Max Magnitude0
ClinVar
Risk rs386833997(C,G;C,G)
Alt rs386833997(C,G;C,G)
Reference rs386833997(A;A)
Significance Probable-Pathogenic
Disease Meckel syndrome type 5
Variation info
Gene RPGRIP1L
CLNDBN Meckel syndrome type 5
Reversed 1
HGVS NC_000016.9:g.53686770T>G
CLNSRC ClinVar
CLNACC RCV000049974.1,


[PMID 21068128OA-icon.png] Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy.