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rs104894967

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894967(A;A)
Make rs104894967(A;G)
ReferenceGRCh38 38.1/141
ChromosomeY
Position2787284
GeneSRY
is asnp
is mentioned by
dbSNPrs104894967
dbSNP (classic)rs104894967
ClinGenrs104894967
ebirs104894967
HLIrs104894967
Exacrs104894967
Gnomadrs104894967
Varsomers104894967
LitVarrs104894967
Maprs104894967
PheGenIrs104894967
Biobankrs104894967
1000 genomesrs104894967
hgdprs104894967
ensemblrs104894967
geneviewrs104894967
scholarrs104894967
googlers104894967
pharmgkbrs104894967
gwascentralrs104894967
openSNPrs104894967
23andMers104894967
SNPshotrs104894967
SNPdbers104894967
MSV3drs104894967
GWAS Ctlgrs104894967
Y Chromrs104894967
Max Magnitude0
OMIM480000
Desc
Variant0010
Relatedalso
ClinVar
Risk rs104894967(A;A)
Alt rs104894967(A;A)
Reference Rs104894967(G;G)
Significance Pathogenic
Disease 46
Variation info
Gene SRY
CLNDBN 46,XY sex reversal, type 1
Reversed 1
HGVS NC_000024.9:g.2655325C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000010399.4,