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rs749293235

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;T) 3 Carrier of an autosomal recessive polycystic kidney disease mutation
Make rs749293235(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome6
Position52055593
GenePKHD1
is asnp
is mentioned by
dbSNPrs749293235
ebirs749293235
HLIrs749293235
Exacrs749293235
Varsomers749293235
Maprs749293235
PheGenIrs749293235
hapmaprs749293235
1000 genomesrs749293235
hgdprs749293235
ensemblrs749293235
gopubmedrs749293235
geneviewrs749293235
scholarrs749293235
googlers749293235
pharmgkbrs749293235
gwascentralrs749293235
openSNPrs749293235
23andMers749293235
23andMe allrs749293235
SNP Nexus

SNPshotrs749293235
SNPdbers749293235
MSV3drs749293235
GWAS Ctlgrs749293235
Max Magnitude3
ClinVar
Risk rs749293235(T;T)
Alt rs749293235(T;T)
Reference rs749293235(A;A)
Significance Probable-Pathogenic
Disease Polycystic kidney disease
Variation info
Gene PKHD1
CLNDBN Polycystic kidney disease, infantile type
Reversed 0
HGVS NC_000006.11:g.51920391A>T
CLNSRC
CLNACC RCV000169512.1,