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rs398122961

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(TGTATGAG;TGTATGAG) 0 common in clinvar
Make rs398122961(A;A)
Make rs398122961(A;TGTATGAG)
ReferenceGRCh38 38.1/141
Chromosome1
Position211671216
GeneNEK2
is asnp
is mentioned by
dbSNPrs398122961
ebirs398122961
HLIrs398122961
Exacrs398122961
Varsomers398122961
Maprs398122961
PheGenIrs398122961
hapmaprs398122961
1000 genomesrs398122961
hgdprs398122961
ensemblrs398122961
gopubmedrs398122961
geneviewrs398122961
scholarrs398122961
googlers398122961
pharmgkbrs398122961
gwascentralrs398122961
openSNPrs398122961
23andMers398122961
23andMe allrs398122961
SNP Nexus

SNPshotrs398122961
SNPdbers398122961
MSV3drs398122961
GWAS Ctlgrs398122961
Max Magnitude0
ClinVar
Risk rs398122961(A;A)
Alt rs398122961(A;A)
Reference rs398122961(TGTATGAG;TGTATGAG)
Significance Pathogenic
Disease Retinitis pigmentosa 67
Variation info
Gene NEK2
CLNDBN Retinitis pigmentosa 67
Reversed 1
HGVS NC_000001.10:g.211844558_211844565delCTCATACAinsT
CLNSRC OMIM Allelic Variant
CLNACC RCV000076909.6,