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rs104894964

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs104894964(A;T)
Make rs104894964(T;T)
ReferenceGRCh38 38.1/141
ChromosomeY
Position2787287
GeneSRY
is asnp
is mentioned by
dbSNPrs104894964
dbSNP (classic)rs104894964
ClinGenrs104894964
ebirs104894964
HLIrs104894964
Exacrs104894964
Gnomadrs104894964
Varsomers104894964
LitVarrs104894964
Maprs104894964
PheGenIrs104894964
Biobankrs104894964
1000 genomesrs104894964
hgdprs104894964
ensemblrs104894964
geneviewrs104894964
scholarrs104894964
googlers104894964
pharmgkbrs104894964
gwascentralrs104894964
openSNPrs104894964
23andMers104894964
SNPshotrs104894964
SNPdbers104894964
MSV3drs104894964
GWAS Ctlgrs104894964
Y Chromrs104894964
Max Magnitude0
OMIM480000
Desc
Variant0007
Relatedalso
ClinVar
Risk rs104894964(T;T)
Alt rs104894964(T;T)
Reference Rs104894964(A;A)
Significance Pathogenic
Disease 46
Variation info
Gene SRY
CLNDBN 46,XY sex reversal, type 1
Reversed 1
HGVS NC_000024.9:g.2655328T>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000010396.4,