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rs104894976

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894976(C;T)
Make rs104894976(T;T)
ReferenceGRCh38 38.1/141
ChromosomeY
Position2787207
GeneSRY
is asnp
is mentioned by
dbSNPrs104894976
dbSNP (classic)rs104894976
ClinGenrs104894976
ebirs104894976
HLIrs104894976
Exacrs104894976
Gnomadrs104894976
Varsomers104894976
LitVarrs104894976
Maprs104894976
PheGenIrs104894976
Biobankrs104894976
1000 genomesrs104894976
hgdprs104894976
ensemblrs104894976
geneviewrs104894976
scholarrs104894976
googlers104894976
pharmgkbrs104894976
gwascentralrs104894976
openSNPrs104894976
23andMers104894976
SNPshotrs104894976
SNPdbers104894976
MSV3drs104894976
GWAS Ctlgrs104894976
Y Chromrs104894976
Max Magnitude0
OMIM480000
Desc
Variant0019
Relatedalso
ClinVar
Risk rs104894976(T;T)
Alt rs104894976(T;T)
Reference Rs104894976(C;C)
Significance Pathogenic
Disease 46
Variation info
Gene SRY
CLNDBN 46,XY sex reversal, type 1
Reversed 1
HGVS NC_000024.9:g.2655248G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000010406.4,