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rs121908387

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121908387(C;T)
Make rs121908387(T;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position148120063
GeneSPINK5
is asnp
is mentioned by
dbSNPrs121908387
ebirs121908387
HLIrs121908387
Exacrs121908387
Varsomers121908387
Maprs121908387
PheGenIrs121908387
hapmaprs121908387
1000 genomesrs121908387
hgdprs121908387
ensemblrs121908387
gopubmedrs121908387
geneviewrs121908387
scholarrs121908387
googlers121908387
pharmgkbrs121908387
gwascentralrs121908387
openSNPrs121908387
23andMers121908387
23andMe allrs121908387
SNP Nexus

SNPshotrs121908387
SNPdbers121908387
MSV3drs121908387
GWAS Ctlgrs121908387
Max Magnitude0
OMIM605010
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121908387(T;T)
Alt rs121908387(T;T)
Reference rs121908387(C;C)
Significance Pathogenic
Disease Netherton syndrome
Variation info
Gene SPINK5
CLNDBN Netherton syndrome
Reversed 0
HGVS NC_000005.9:g.147499626C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000005582.3,