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rs587777750

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs587777750(-;-)
Make rs587777750(-;A)
Make rs587777750(A;A)
ReferenceGRCh38 38.1/142
Chromosome5
Position148120321
GeneSPINK5
is asnp
is mentioned by
dbSNPrs587777750
ebirs587777750
HLIrs587777750
Exacrs587777750
Varsomers587777750
Maprs587777750
PheGenIrs587777750
hapmaprs587777750
1000 genomesrs587777750
hgdprs587777750
ensemblrs587777750
gopubmedrs587777750
geneviewrs587777750
scholarrs587777750
googlers587777750
pharmgkbrs587777750
gwascentralrs587777750
openSNPrs587777750
23andMers587777750
23andMe allrs587777750
SNP Nexus

SNPshotrs587777750
SNPdbers587777750
MSV3drs587777750
GWAS Ctlgrs587777750
Max Magnitude0
ClinVar
Risk rs587777750(A;A)
Alt rs587777750(A;A)
Reference rs587777750(;)
Significance Pathogenic
Disease Netherton syndrome
Variation info
Gene SPINK5
CLNDBN Netherton syndrome
Reversed 0
HGVS NC_000005.9:g.147499884dupA
CLNSRC OMIM Allelic Variant
CLNACC RCV000005584.3,