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rs104894709

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs104894709(A;T)
Make rs104894709(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position19197545
GeneRFXANK
is asnp
is mentioned by
dbSNPrs104894709
dbSNP (classic)rs104894709
ClinGenrs104894709
ebirs104894709
HLIrs104894709
Exacrs104894709
Gnomadrs104894709
Varsomers104894709
LitVarrs104894709
Maprs104894709
PheGenIrs104894709
Biobankrs104894709
1000 genomesrs104894709
hgdprs104894709
ensemblrs104894709
geneviewrs104894709
scholarrs104894709
googlers104894709
pharmgkbrs104894709
gwascentralrs104894709
openSNPrs104894709
23andMers104894709
SNPshotrs104894709
SNPdbers104894709
MSV3drs104894709
GWAS Ctlgrs104894709
Max Magnitude0
OMIM603200
Desc
Variant0004
Relatedalso
ClinVar
Risk rs104894709(T;T)
Alt rs104894709(T;T)
Reference Rs104894709(A;A)
Significance Pathogenic
Disease Bare lymphocyte syndrome
Variation info
Gene RFXANK
CLNDBN Bare lymphocyte syndrome, type II, complementation group b
Reversed 0
HGVS NC_000019.9:g.19308354A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000006979.2,