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rs386833998

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(TGAA;TGAA) 0 common in clinvar
Make rs386833998(-;-)
Make rs386833998(-;TGAA)
ReferenceGRCh38 38.1/141
Chromosome16
Position53686483
GeneRPGRIP1L
is asnp
is mentioned by
dbSNPrs386833998
ebirs386833998
HLIrs386833998
Exacrs386833998
Varsomers386833998
Maprs386833998
PheGenIrs386833998
hapmaprs386833998
1000 genomesrs386833998
hgdprs386833998
ensemblrs386833998
gopubmedrs386833998
geneviewrs386833998
scholarrs386833998
googlers386833998
pharmgkbrs386833998
gwascentralrs386833998
openSNPrs386833998
23andMers386833998
23andMe allrs386833998
SNP Nexus

SNPshotrs386833998
SNPdbers386833998
MSV3drs386833998
GWAS Ctlgrs386833998
Max Magnitude0
ClinVar
Risk rs386833998(;)
Alt rs386833998(;)
Reference rs386833998(TGAA;TGAA)
Significance Probable-Pathogenic
Disease Meckel syndrome type 5
Variation info
Gene RPGRIP1L
CLNDBN Meckel syndrome type 5
Reversed 1
HGVS NC_000016.9:g.53720395_53720398delTTCA
CLNSRC ClinVar
CLNACC RCV000049975.1,


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