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rs763300393

From SNPedia

Orientationplus
Geno Mag Summary
(CTTT;CTTT) 0 common in clinvar
Make rs763300393(-;-)
Make rs763300393(-;CTTT)
ReferenceGRCh38.p2 38.2/144
Chromosome3
Position132719787
GeneNPHP3, NPHP3-ACAD11
is asnp
is mentioned by
dbSNPrs763300393
ebirs763300393
HLIrs763300393
Exacrs763300393
Varsomers763300393
Maprs763300393
PheGenIrs763300393
hapmaprs763300393
1000 genomesrs763300393
hgdprs763300393
ensemblrs763300393
gopubmedrs763300393
geneviewrs763300393
scholarrs763300393
googlers763300393
pharmgkbrs763300393
gwascentralrs763300393
openSNPrs763300393
23andMers763300393
23andMe allrs763300393
SNP Nexus

SNPshotrs763300393
SNPdbers763300393
MSV3drs763300393
GWAS Ctlgrs763300393
Max Magnitude0
ClinVar
Risk rs763300393(;)
Alt rs763300393(;)
Reference rs763300393(CTTT;CTTT)
Significance Pathogenic
Disease Renal-hepatic-pancreatic dysplasia Adolescent nephronophthisis
Variation info
Gene NPHP3 NPHP3-ACAD11
CLNDBN Renal-hepatic-pancreatic dysplasia Adolescent nephronophthisis
Reversed 0
HGVS NC_000003.11:g.132438631_132438634delCTTT
CLNSRC
CLNACC RCV000175991.1, RCV000175992.1,