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rs34482796

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs34482796(C;T)
Make rs34482796(T;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position148097988
GeneSPINK5
is asnp
is mentioned by
dbSNPrs34482796
dbSNP (classic)rs34482796
ClinGenrs34482796
ebirs34482796
HLIrs34482796
Exacrs34482796
Gnomadrs34482796
Varsomers34482796
LitVarrs34482796
Maprs34482796
PheGenIrs34482796
Biobankrs34482796
1000 genomesrs34482796
hgdprs34482796
ensemblrs34482796
geneviewrs34482796
scholarrs34482796
googlers34482796
pharmgkbrs34482796
gwascentralrs34482796
openSNPrs34482796
23andMers34482796
SNPshotrs34482796
SNPdbers34482796
MSV3drs34482796
GWAS Ctlgrs34482796
GMAF0.4417
Max Magnitude0



ClinVar
Risk rs34482796(T;T)
Alt rs34482796(T;T)
Reference Rs34482796(C;C)
Significance Non-pathogenic
Disease not specified Netherton syndrome
Variation info
Gene SPINK5
CLNDBN not specified Netherton syndrome
Reversed 0
HGVS NC_000005.9:g.147477551C>T
CLNSRC UniProtKB (protein)
CLNACC RCV000247440.1, RCV000346513.1,