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rs104894968

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs104894968(C;C)
Make rs104894968(C;T)
ReferenceGRCh38 38.1/141
ChromosomeY
Position2787401
GeneSRY
is asnp
is mentioned by
dbSNPrs104894968
ebirs104894968
HLIrs104894968
Exacrs104894968
Varsomers104894968
Maprs104894968
PheGenIrs104894968
hapmaprs104894968
1000 genomesrs104894968
hgdprs104894968
ensemblrs104894968
gopubmedrs104894968
geneviewrs104894968
scholarrs104894968
googlers104894968
pharmgkbrs104894968
gwascentralrs104894968
openSNPrs104894968
23andMers104894968
23andMe allrs104894968
SNP Nexus

SNPshotrs104894968
SNPdbers104894968
MSV3drs104894968
GWAS Ctlgrs104894968
Y Chromrs104894968
Max Magnitude0
OMIM480000
Desc
Variant0011
Relatedalso
ClinVar
Risk rs104894968(C;C)
Alt rs104894968(C;C)
Reference Rs104894968(T;T)
Significance Pathogenic
Disease 46
Variation info
Gene SRY
CLNDBN 46,XY sex reversal, type 1
Reversed 1
HGVS NC_000024.9:g.2655442A>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000010400.4,