Have questions? Visit https://www.reddit.com/r/SNPedia

rs104894750

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894750(C;T)
Make rs104894750(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position153906113
GeneAVPR2
is asnp
is mentioned by
dbSNPrs104894750
ebirs104894750
HLIrs104894750
Exacrs104894750
Varsomers104894750
Maprs104894750
PheGenIrs104894750
hapmaprs104894750
1000 genomesrs104894750
hgdprs104894750
ensemblrs104894750
gopubmedrs104894750
geneviewrs104894750
scholarrs104894750
googlers104894750
pharmgkbrs104894750
gwascentralrs104894750
openSNPrs104894750
23andMers104894750
23andMe allrs104894750
SNP Nexus

SNPshotrs104894750
SNPdbers104894750
MSV3drs104894750
GWAS Ctlgrs104894750
Max Magnitude0
OMIM300538
Desc
Variant0005
Relatedalso
ClinVar
Risk rs104894750(T;T)
Alt rs104894750(T;T)
Reference rs104894750(C;C)
Significance Pathogenic
Disease Nephrogenic diabetes insipidus
Variation info
Gene AVPR2
CLNDBN Nephrogenic diabetes insipidus, X-linked
Reversed 0
HGVS NC_000023.10:g.153171567C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000011586.3,