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rs104894966

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894966(A;A)
Make rs104894966(A;G)
ReferenceGRCh38 38.1/141
ChromosomeY
Position2787267
GeneSRY
is asnp
is mentioned by
dbSNPrs104894966
dbSNP (classic)rs104894966
ClinGenrs104894966
ebirs104894966
HLIrs104894966
Exacrs104894966
Gnomadrs104894966
Varsomers104894966
LitVarrs104894966
Maprs104894966
PheGenIrs104894966
Biobankrs104894966
1000 genomesrs104894966
hgdprs104894966
ensemblrs104894966
geneviewrs104894966
scholarrs104894966
googlers104894966
pharmgkbrs104894966
gwascentralrs104894966
openSNPrs104894966
23andMers104894966
SNPshotrs104894966
SNPdbers104894966
MSV3drs104894966
GWAS Ctlgrs104894966
Y Chromrs104894966
Max Magnitude0
OMIM480000
Desc
Variant0009
Relatedalso
ClinVar
Risk rs104894966(A;A)
Alt rs104894966(A;A)
Reference Rs104894966(G;G)
Significance Pathogenic
Disease 46
Variation info
Gene SRY
CLNDBN 46,XY sex reversal, type 1
Reversed 1
HGVS NC_000024.9:g.2655308C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000010398.5,