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rs771180444

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;TG) 3 Carrier of an autosomal recessive polycystic kidney disease mutation
(TG;TG) 0 common in clinvar


Make rs771180444(-;-)
ReferenceGRCh38.p2 38.2/144
Chromosome6
Position51959898
GenePKHD1
is asnp
is mentioned by
dbSNPrs771180444
ebirs771180444
HLIrs771180444
Exacrs771180444
Varsomers771180444
Maprs771180444
PheGenIrs771180444
hapmaprs771180444
1000 genomesrs771180444
hgdprs771180444
ensemblrs771180444
gopubmedrs771180444
geneviewrs771180444
scholarrs771180444
googlers771180444
pharmgkbrs771180444
gwascentralrs771180444
openSNPrs771180444
23andMers771180444
23andMe allrs771180444
SNP Nexus

SNPshotrs771180444
SNPdbers771180444
MSV3drs771180444
GWAS Ctlgrs771180444
Max Magnitude3
ClinVar
Risk rs771180444(;)
Alt rs771180444(;)
Reference rs771180444(TG;TG)
Significance Pathogenic
Disease Polycystic kidney disease
Variation info
Gene PKHD1
CLNDBN Polycystic kidney disease, infantile type
Reversed 0
HGVS NC_000006.11:g.51824696_51824697delTG
CLNSRC
CLNACC RCV000177891.1,