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rs2286662

From SNPedia

Merged intors6523
Orientationminus
Stabilizedminus
Make rs2286662(A;A)
Make rs2286662(A;G)
Make rs2286662(G;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position17821329
GeneINSL3
is asnp
is mentioned by
dbSNPrs2286662
ebirs2286662
HLIrs2286662
Exacrs2286662
Varsomers2286662
Maprs2286662
PheGenIrs2286662
hapmaprs2286662
1000 genomesrs2286662
hgdprs2286662
ensemblrs2286662
gopubmedrs2286662
geneviewrs2286662
scholarrs2286662
googlers2286662
pharmgkbrs2286662
gwascentralrs2286662
openSNPrs2286662
23andMers2286662
23andMe allrs2286662
SNP Nexus

SNPshotrs2286662
SNPdbers2286662
MSV3drs2286662
GWAS Ctlgrs2286662
StatusMerged into rs6523
Max Magnitude
? (A;A) (A;G) (G;G) 28
Venter snp
Source plos
Gene JAK3
allele C
frequency 0.4
sift TOLERATED
HuRef 1103691103898
Disease Association 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.