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rs869312953

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs869312953(A;A)
Make rs869312953(A;C)
ReferenceGRCh38.p2 38.2/147
Chromosome1
Position64846735
GeneJAK1
is asnp
is mentioned by
dbSNPrs869312953
ebirs869312953
HLIrs869312953
Exacrs869312953
Varsomers869312953
Maprs869312953
PheGenIrs869312953
hapmaprs869312953
1000 genomesrs869312953
hgdprs869312953
ensemblrs869312953
gopubmedrs869312953
geneviewrs869312953
scholarrs869312953
googlers869312953
pharmgkbrs869312953
gwascentralrs869312953
openSNPrs869312953
23andMers869312953
23andMe allrs869312953
SNP Nexus

SNPshotrs869312953
SNPdbers869312953
MSV3drs869312953
GWAS Ctlgrs869312953
Max Magnitude0
ClinVar
Risk rs869312953(A;A)
Alt rs869312953(A;A)
Reference rs869312953(C;C)
Significance Probable-Pathogenic
Disease Inborn genetic diseases
Variation info
Gene JAK1
CLNDBN Inborn genetic diseases
Reversed 1
HGVS NC_000001.10:g.65312418G>T
CLNSRC
CLNACC RCV000210558.1,