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rs10407022

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0
Make rs10407022(G;G)
Make rs10407022(G;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position2249478
GeneAMH, MIR4321
is asnp
is mentioned by
dbSNPrs10407022
ebirs10407022
HLIrs10407022
Exacrs10407022
Varsomers10407022
Maprs10407022
PheGenIrs10407022
hapmaprs10407022
1000 genomesrs10407022
hgdprs10407022
ensemblrs10407022
gopubmedrs10407022
geneviewrs10407022
scholarrs10407022
googlers10407022
pharmgkbrs10407022
gwascentralrs10407022
openSNPrs10407022
23andMers10407022
23andMe allrs10407022
SNP Nexus

SNPshotrs10407022
SNPdbers10407022
MSV3drs10407022
GWAS Ctlgrs10407022
GMAF0.3269
Max Magnitude0
? (G;G) (G;T) (T;T) 28
Venter snp
Source plos
Gene AMH
allele T
frequency 0.805
sift AFFECT FUNCTION
HuRef 1103691072201
Disease Association Defects in AMH are the cause of persistent Muellerian duct syndrome type I (PMDS-1) (MIM:261550). PMDS-1 is a form of male pseudohermaphroditism characterized by a failure of Muellerian duct regression in otherwise normal males.



[PMID 17636279] A polymorphism in the AMH type II receptor gene is associated with age at menopause in interaction with parity.


[PMID 18230658] A functional anti-mullerian hormone gene polymorphism is associated with follicle number and androgen levels in polycystic ovary syndrome patients.


[PMID 18603647OA-icon.png] Functional genetic polymorphisms and female reproductive disorders: Part I: Polycystic ovary syndrome and ovarian response.


GET Evidence
AMH-S49I
aa_change Ser49Ile
aa_change_short S49I
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.737323
summary



[PMID 23544102OA-icon.png] Interactions between genetic variants in AMH and AMHR2 may modify age at natural menopause


[PMID 23371438] Haplotype analysis of single nucleotide polymorphisms in anti-Mullerian hormone gene in Chinese PCOS women.


[PMID 26464718OA-icon.png] Possible involvement of single nucleotide polymorphisms in anti-Müllerian hormone signaling pathway in the pathogenesis of early OHSS in Han Chinese women