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

rs104894697

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894697(C;T)
Make rs104894697(T;T)
ReferenceGRCh38 38.1/142
Chromosome19
Position17816972
GeneINSL3
is asnp
is mentioned by
dbSNPrs104894697
dbSNP (classic)rs104894697
ClinGenrs104894697
ebirs104894697
HLIrs104894697
Exacrs104894697
Gnomadrs104894697
Varsomers104894697
LitVarrs104894697
Maprs104894697
PheGenIrs104894697
Biobankrs104894697
1000 genomesrs104894697
hgdprs104894697
ensemblrs104894697
geneviewrs104894697
scholarrs104894697
googlers104894697
pharmgkbrs104894697
gwascentralrs104894697
openSNPrs104894697
23andMers104894697
SNPshotrs104894697
SNPdbers104894697
MSV3drs104894697
GWAS Ctlgrs104894697
GMAF0.0004591
Max Magnitude0
OMIM146738
Desc
Variant0002
Relatedalso
ClinVar
Risk rs104894697(G;G) rs104894697(T;T)
Alt rs104894697(G;G) rs104894697(T;T)
Reference Rs104894697(C;C)
Significance Pathogenic
Disease Cryptorchidism
Variation info
Gene INSL3
CLNDBN Cryptorchidism, unilateral or bilateral
Reversed 1
HGVS NC_000019.9:g.17927781G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000015955.25,