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rs121912555

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121912555(C;G)
Make rs121912555(G;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position17816920
GeneINSL3
is asnp
is mentioned by
dbSNPrs121912555
dbSNP (classic)rs121912555
ClinGenrs121912555
ebirs121912555
HLIrs121912555
Exacrs121912555
Gnomadrs121912555
Varsomers121912555
LitVarrs121912555
Maprs121912555
PheGenIrs121912555
Biobankrs121912555
1000 genomesrs121912555
hgdprs121912555
ensemblrs121912555
geneviewrs121912555
scholarrs121912555
googlers121912555
pharmgkbrs121912555
gwascentralrs121912555
openSNPrs121912555
23andMers121912555
SNPshotrs121912555
SNPdbers121912555
MSV3drs121912555
GWAS Ctlgrs121912555
Max Magnitude0
OMIM146738
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121912555(G;G)
Alt rs121912555(G;G)
Reference Rs121912555(C;C)
Significance Pathogenic
Disease Cryptorchidism
Variation info
Gene INSL3
CLNDBN Cryptorchidism, unilateral or bilateral
Reversed 1
HGVS NC_000019.9:g.17927729G>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000015954.25,