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Rs121908539

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Orientationplus
is asnp
is mentioned by
dbSNPrs121908539
PheGenIrs121908539
nextbiors121908539
hapmaprs121908539
1000 genomesrs121908539
hgdprs121908539
ensemblrs121908539
gopubmedrs121908539
geneviewrs121908539
scholarrs121908539
googlers121908539
pharmgkbrs121908539
gwascentralrs121908539
openSNPrs121908539
23andMers121908539
23andMe allrs121908539
SNP Nexus

SNPshotrs121908539
SNPdbers121908539
MSV3drs121908539
GeneGPHN
Chromosome14
Orientationplus
Position66508555
ReferenceGRCh38 38.1/141
Max Magnitude0
Geno Mag Summary
(A;A) 0 common in complete genomics
Make rs121908539(A;T)
Make rs121908539(T;T)
OMIM603930
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121908539(T;T)
Alt rs121908539(T;T)
Reference rs121908539(A;A)
Significance 5
Disease Variant of unknown significance, Hyperekplexia hereditary
ClinVar info
Gene GPHN
CLNDBN Variant of unknown significance, Hyperekplexia hereditary
Reversed 0
CLNHGVS NC_000014.8:g.66975273A>T
CLNSRC GeneReviews, OMIM Allelic Variant
CLNACC RCV000006337.1, RCV000031964.2