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rs771623148

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
(-;A) 3 Carrier of an autosomal recessive polycystic kidney disease mutation
Make rs771623148(-;-)
Make rs771623148(A;A)
ReferenceGRCh38.p2 38.2/144
Chromosome6
Position51659673
GeneLOC105375087, PKHD1
is asnp
is mentioned by
dbSNPrs771623148
ebirs771623148
HLIrs771623148
Exacrs771623148
Varsomers771623148
Maprs771623148
PheGenIrs771623148
hapmaprs771623148
1000 genomesrs771623148
hgdprs771623148
ensemblrs771623148
gopubmedrs771623148
geneviewrs771623148
scholarrs771623148
googlers771623148
pharmgkbrs771623148
gwascentralrs771623148
openSNPrs771623148
23andMers771623148
23andMe allrs771623148
SNP Nexus

SNPshotrs771623148
SNPdbers771623148
MSV3drs771623148
GWAS Ctlgrs771623148
Max Magnitude3
ClinVar
Risk rs771623148(A;A)
Alt rs771623148(A;A)
Reference rs771623148(;)
Significance Probable-Pathogenic
Disease Polycystic kidney disease
Variation info
Gene PKHD1
CLNDBN Polycystic kidney disease, infantile type
Reversed 0
HGVS NC_000006.11:g.51524472dupA
CLNSRC
CLNACC RCV000169490.1,