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rs766602179

From SNPedia

Orientationplus
Stabilizedplus
Make rs766602179(-;-)
Make rs766602179(-;G)
Make rs766602179(G;G)
ReferenceGRCh38.p7 38.3/151
Chromosome11
Position18296885
GeneHPS5
is asnp
is mentioned by
dbSNPrs766602179
dbSNP (classic)rs766602179
ClinGenrs766602179
ebirs766602179
HLIrs766602179
Exacrs766602179
Gnomadrs766602179
Varsomers766602179
LitVarrs766602179
Maprs766602179
PheGenIrs766602179
Biobankrs766602179
1000 genomesrs766602179
hgdprs766602179
ensemblrs766602179
geneviewrs766602179
scholarrs766602179
googlers766602179
pharmgkbrs766602179
gwascentralrs766602179
openSNPrs766602179
23andMers766602179
23andMe allrs766602179
SNPshotrs766602179
SNPdbers766602179
MSV3drs766602179
GWAS Ctlgrs766602179
Max Magnitude0

aka NM_181507.1(HPS5):c.1423delC or (p.Leu475Serfs)

OMIM pathogenic variant