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rs104894754

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894754(A;A)
Make rs104894754(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position153905759
GeneAVPR2
is asnp
is mentioned by
dbSNPrs104894754
ebirs104894754
HLIrs104894754
Exacrs104894754
Varsomers104894754
Maprs104894754
PheGenIrs104894754
hapmaprs104894754
1000 genomesrs104894754
hgdprs104894754
ensemblrs104894754
gopubmedrs104894754
geneviewrs104894754
scholarrs104894754
googlers104894754
pharmgkbrs104894754
gwascentralrs104894754
openSNPrs104894754
23andMers104894754
23andMe allrs104894754
SNP Nexus

SNPshotrs104894754
SNPdbers104894754
MSV3drs104894754
GWAS Ctlgrs104894754
Max Magnitude0
OMIM300538
Desc
Variant0011
Relatedalso
ClinVar
Risk rs104894754(A;A)
Alt rs104894754(A;A)
Reference rs104894754(G;G)
Significance Pathogenic
Disease Nephrogenic diabetes insipidus
Variation info
Gene AVPR2
CLNDBN Nephrogenic diabetes insipidus, X-linked
Reversed 0
HGVS NC_000023.10:g.153171213G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000011592.7,