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rs104894698

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894698(C;T)
Make rs104894698(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position17816946
GeneINSL3
is asnp
is mentioned by
dbSNPrs104894698
dbSNP (classic)rs104894698
ClinGenrs104894698
ebirs104894698
HLIrs104894698
Exacrs104894698
Gnomadrs104894698
Varsomers104894698
LitVarrs104894698
Maprs104894698
PheGenIrs104894698
Biobankrs104894698
1000 genomesrs104894698
hgdprs104894698
ensemblrs104894698
geneviewrs104894698
scholarrs104894698
googlers104894698
pharmgkbrs104894698
gwascentralrs104894698
openSNPrs104894698
23andMers104894698
SNPshotrs104894698
SNPdbers104894698
MSV3drs104894698
GWAS Ctlgrs104894698
Max Magnitude0
OMIM146738
Desc
Variant0003
Relatedalso
ClinVar
Risk rs104894698(T;T)
Alt rs104894698(T;T)
Reference Rs104894698(C;C)
Significance Pathogenic
Disease Cryptorchidism
Variation info
Gene INSL3
CLNDBN Cryptorchidism, unilateral or bilateral
Reversed 1
HGVS NC_000019.9:g.17927755G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000015956.21,