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rs28933399

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs28933399(C;C)
Make rs28933399(C;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position160136665
GeneATP1A2
is asnp
is mentioned by
dbSNPrs28933399
dbSNP (classic)rs28933399
ClinGenrs28933399
ebirs28933399
HLIrs28933399
Exacrs28933399
Gnomadrs28933399
Varsomers28933399
LitVarrs28933399
Maprs28933399
PheGenIrs28933399
Biobankrs28933399
1000 genomesrs28933399
hgdprs28933399
ensemblrs28933399
geneviewrs28933399
scholarrs28933399
googlers28933399
pharmgkbrs28933399
gwascentralrs28933399
openSNPrs28933399
23andMers28933399
SNPshotrs28933399
SNPdbers28933399
MSV3drs28933399
GWAS Ctlgrs28933399
Max Magnitude0
OMIM182340
DescMIGRAINE, FAMILIAL HEMIPLEGIC, 2
Variant0002
Relatedalso


ClinVar
Risk rs28933399(C;C)
Alt rs28933399(C;C)
Reference Rs28933399(T;T)
Significance Pathogenic
Disease Familial hemiplegic migraine type 2
Variation info
Gene ATP1A2
CLNDBN Familial hemiplegic migraine type 2
Reversed 0
HGVS NC_000001.10:g.160106455T>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000013781.23,