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rs104894004

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894004(C;T)
Make rs104894004(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position30912022
GeneAQP1
is asnp
is mentioned by
dbSNPrs104894004
ebirs104894004
HLIrs104894004
Exacrs104894004
Varsomers104894004
Maprs104894004
PheGenIrs104894004
hapmaprs104894004
1000 genomesrs104894004
hgdprs104894004
ensemblrs104894004
gopubmedrs104894004
geneviewrs104894004
scholarrs104894004
googlers104894004
pharmgkbrs104894004
gwascentralrs104894004
openSNPrs104894004
23andMers104894004
23andMe allrs104894004
SNP Nexus

SNPshotrs104894004
SNPdbers104894004
MSV3drs104894004
GWAS Ctlgrs104894004
Max Magnitude0
OMIM107776
Desc
Variant0002
Relatedalso
ClinVar
Risk rs104894004(T;T)
Alt rs104894004(T;T)
Reference rs104894004(C;C)
Significance Pathogenic
Disease Aquaporin 1 deficiency Colton-null
Variation info
Gene AQP1
CLNDBN Aquaporin 1 deficiency Colton-null
Reversed 0
HGVS NC_000007.13:g.30951637C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000019425.27, RCV000019426.27,