Have questions? Visit https://www.reddit.com/r/SNPedia

rs104894957

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894957(C;C)
Make rs104894957(C;G)
ReferenceGRCh38 38.1/141
ChromosomeY
Position2787426
GeneSRY
is asnp
is mentioned by
dbSNPrs104894957
dbSNP (classic)rs104894957
ClinGenrs104894957
ebirs104894957
HLIrs104894957
Exacrs104894957
Gnomadrs104894957
Varsomers104894957
LitVarrs104894957
Maprs104894957
PheGenIrs104894957
Biobankrs104894957
1000 genomesrs104894957
hgdprs104894957
ensemblrs104894957
geneviewrs104894957
scholarrs104894957
googlers104894957
pharmgkbrs104894957
gwascentralrs104894957
openSNPrs104894957
23andMers104894957
SNPshotrs104894957
SNPdbers104894957
MSV3drs104894957
GWAS Ctlgrs104894957
Y Chromrs104894957
Max Magnitude0
OMIM480000
Desc
Variant0004
Relatedalso
ClinVar
Risk rs104894957(C;C)
Alt rs104894957(C;C)
Reference Rs104894957(G;G)
Significance Pathogenic
Disease 46
Variation info
Gene SRY
CLNDBN 46,XY sex reversal, type 1
Reversed 1
HGVS NC_000024.9:g.2655467C>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000010392.3,