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rs28935496

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs28935496(C;T)
Make rs28935496(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position153905843
GeneAVPR2
is asnp
is mentioned by
dbSNPrs28935496
ebirs28935496
HLIrs28935496
Exacrs28935496
Varsomers28935496
Maprs28935496
PheGenIrs28935496
hapmaprs28935496
1000 genomesrs28935496
hgdprs28935496
ensemblrs28935496
gopubmedrs28935496
geneviewrs28935496
scholarrs28935496
googlers28935496
pharmgkbrs28935496
gwascentralrs28935496
openSNPrs28935496
23andMers28935496
23andMe allrs28935496
SNP Nexus

SNPshotrs28935496
SNPdbers28935496
MSV3drs28935496
GWAS Ctlgrs28935496
Max Magnitude0
OMIM300538
DescDIABETES INSIPIDUS, NEPHROGENIC, X-LINKED
Variant0006
Relatedalso


ClinVar
Risk rs28935496(T;T)
Alt rs28935496(T;T)
Reference rs28935496(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.153171297C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000011587.3,