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rs184758350

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs184758350(G;G)
Make rs184758350(G;T)
ReferenceGRCh38 38.1/142
Chromosome3
Position57110230
GeneIL17RD
is asnp
is mentioned by
dbSNPrs184758350
dbSNP (classic)rs184758350
ClinGenrs184758350
ebirs184758350
HLIrs184758350
Exacrs184758350
Gnomadrs184758350
Varsomers184758350
LitVarrs184758350
Maprs184758350
PheGenIrs184758350
Biobankrs184758350
1000 genomesrs184758350
hgdprs184758350
ensemblrs184758350
geneviewrs184758350
scholarrs184758350
googlers184758350
pharmgkbrs184758350
gwascentralrs184758350
openSNPrs184758350
23andMers184758350
SNPshotrs184758350
SNPdbers184758350
MSV3drs184758350
GWAS Ctlgrs184758350
Max Magnitude0
ClinVar
Risk rs184758350(G;G)
Alt rs184758350(G;G)
Reference Rs184758350(T;T)
Significance Pathogenic
Disease Hypogonadotropic hypogonadism 18 with anosmia Delayed puberty not specified
Variation info
Gene IL17RD
CLNDBN Hypogonadotropic hypogonadism 18 with anosmia Delayed puberty not specified
Reversed 0
HGVS NC_000003.11:g.57144258T>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000043609.2, RCV000156943.1, RCV000442073.1,