{{Rsnum
|rsid = 2286662
|Status = Merged
|Merged = 6523
|Gene = INSL3
|Orientation=minus
|ReferenceAllele=A
|MissenseAllele=G
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Chromosome=19
|position=17821329
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=INSL3
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 20.0 | 43.1 | 36.9
| HCB | 8.3 | 52.6 | 39.1
| JPT | 13.6 | 50.0 | 36.4
| YRI | 0.0 | 21.0 | 79.0
| ASW | 3.6 | 44.6 | 51.8
| CHB | 8.3 | 52.6 | 39.1
| CHD | 0.0 | 0.0 | 0.0
| GIH | 15.5 | 42.3 | 42.3
| LWK | 0.0 | 0.0 | 0.0
| MEX | 14.5 | 52.7 | 32.7
| MKK | 0.0 | 0.0 | 0.0
| TSI | 12.4 | 52.6 | 35.1
| HapMapRevision=28
}}{{Venter SNP
|rsid=2286662
|allele=C
|frequency=0.4
|uid=1103691103898
|type=heterozygous_SNP
|hugo=JAK3
|ensembl gene=ENSG00000105639
|ensembl transcript=ENST00000317306
|sift=TOLERATED
|disease=Defects in INSL3 seems to be a cause of cryptorchidism (MIM:219050); also known as impaired testicular descent. It is one of the most frequent congenital abnormalities in humans, involving 2-5% of male births. Cryptorchidism is associated with increased risk of infertility and testicular cancer. The frequency of INSL3 gene mutations as a cause of cryptorchidism is low.
}}

{{on chip | Illumina Human 1M}}