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rs3777134

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs3777134(C;T)
Make rs3777134(T;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position148118456
GeneSPINK5
is asnp
is mentioned by
dbSNPrs3777134
dbSNP (classic)rs3777134
ClinGenrs3777134
ebirs3777134
HLIrs3777134
Exacrs3777134
Gnomadrs3777134
Varsomers3777134
LitVarrs3777134
Maprs3777134
PheGenIrs3777134
Biobankrs3777134
1000 genomesrs3777134
hgdprs3777134
ensemblrs3777134
geneviewrs3777134
scholarrs3777134
googlers3777134
pharmgkbrs3777134
gwascentralrs3777134
openSNPrs3777134
23andMers3777134
SNPshotrs3777134
SNPdbers3777134
MSV3drs3777134
GWAS Ctlgrs3777134
GMAF0.4936
Max Magnitude0
? (C;C) (C;T) (T;T) 28




ClinVar
Risk rs3777134(T;T)
Alt rs3777134(T;T)
Reference Rs3777134(C;C)
Significance Non-pathogenic
Disease not specified Netherton syndrome
Variation info
Gene SPINK5
CLNDBN not specified Netherton syndrome
Reversed 1
HGVS NC_000005.9:g.147498019G>A
CLNSRC
CLNACC RCV000247596.1, RCV000338362.1,