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rs104894965

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894965(A;A)
Make rs104894965(A;G)
ReferenceGRCh38 38.1/141
ChromosomeY
Position2787395
GeneSRY
is asnp
is mentioned by
dbSNPrs104894965
dbSNP (classic)rs104894965
ClinGenrs104894965
ebirs104894965
HLIrs104894965
Exacrs104894965
Gnomadrs104894965
Varsomers104894965
LitVarrs104894965
Maprs104894965
PheGenIrs104894965
Biobankrs104894965
1000 genomesrs104894965
hgdprs104894965
ensemblrs104894965
geneviewrs104894965
scholarrs104894965
googlers104894965
pharmgkbrs104894965
gwascentralrs104894965
openSNPrs104894965
23andMers104894965
SNPshotrs104894965
SNPdbers104894965
MSV3drs104894965
GWAS Ctlgrs104894965
Y Chromrs104894965
Max Magnitude0
OMIM480000
Desc
Variant0013
Relatedalso
ClinVar
Risk rs104894965(A;A)
Alt rs104894965(A;A)
Reference Rs104894965(G;G)
Significance Pathogenic
Disease 46
Variation info
Gene SRY
CLNDBN 46,XY sex reversal, type 1
Reversed 1
HGVS NC_000024.9:g.2655436C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000010402.4,