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rs104894959

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894959(C;G)
Make rs104894959(G;G)
ReferenceGRCh38 38.1/141
ChromosomeY
Position2787334
GeneSRY
is asnp
is mentioned by
dbSNPrs104894959
dbSNP (classic)rs104894959
ClinGenrs104894959
ebirs104894959
HLIrs104894959
Exacrs104894959
Gnomadrs104894959
Varsomers104894959
LitVarrs104894959
Maprs104894959
PheGenIrs104894959
Biobankrs104894959
1000 genomesrs104894959
hgdprs104894959
ensemblrs104894959
geneviewrs104894959
scholarrs104894959
googlers104894959
pharmgkbrs104894959
gwascentralrs104894959
openSNPrs104894959
23andMers104894959
SNPshotrs104894959
SNPdbers104894959
MSV3drs104894959
GWAS Ctlgrs104894959
Y Chromrs104894959
Max Magnitude0
OMIM480000
Desc
Variant0006
Relatedalso
ClinVar
Risk rs104894959(G;G)
Alt rs104894959(G;G)
Reference Rs104894959(C;C)
Significance Pathogenic
Disease 46
Variation info
Gene SRY
CLNDBN 46,XY sex reversal, type 1 46,XY true hermaphroditism, SRY-related
Reversed 1
HGVS NC_000024.9:g.2655375G>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000010394.7, RCV000010395.5,