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

rs121918654

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(GC;GC) 0 common in clinvar
Make rs121918654(AA;AA)
Make rs121918654(AA;GC)
ReferenceGRCh38 38.1/141
Chromosome9
Position124503218
GeneNR5A1
is asnp
is mentioned by
dbSNPrs121918654
ebirs121918654
HLIrs121918654
Exacrs121918654
Varsomers121918654
Maprs121918654
PheGenIrs121918654
hapmaprs121918654
1000 genomesrs121918654
hgdprs121918654
ensemblrs121918654
gopubmedrs121918654
geneviewrs121918654
scholarrs121918654
googlers121918654
pharmgkbrs121918654
gwascentralrs121918654
openSNPrs121918654
23andMers121918654
23andMe allrs121918654
SNP Nexus

SNPshotrs121918654
SNPdbers121918654
MSV3drs121918654
GWAS Ctlgrs121918654
Max Magnitude0
OMIM184757
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121918654(AA;AA)
Alt rs121918654(AA;AA)
Reference rs121918654(GC;GC)
Significance Pathogenic
Disease 46
Variation info
Gene NR5A1
CLNDBN 46,XY sex reversal, type 3
Reversed 1
HGVS NC_000009.11:g.127265497_127265498delGCinsTT
CLNSRC OMIM Allelic Variant
CLNACC RCV000013638.24,