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rs373175587

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs373175587(A;T)
Make rs373175587(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome15
Position28130164
GeneHERC2
is asnp
is mentioned by
dbSNPrs373175587
dbSNP (classic)rs373175587
ClinGenrs373175587
ebirs373175587
HLIrs373175587
Exacrs373175587
Gnomadrs373175587
Varsomers373175587
LitVarrs373175587
Maprs373175587
PheGenIrs373175587
Biobankrs373175587
1000 genomesrs373175587
hgdprs373175587
ensemblrs373175587
geneviewrs373175587
scholarrs373175587
googlers373175587
pharmgkbrs373175587
gwascentralrs373175587
openSNPrs373175587
23andMers373175587
23andMe allrs373175587
SNPshotrs373175587
SNPdbers373175587
MSV3drs373175587
GWAS Ctlgrs373175587
Max Magnitude0
ClinVar
Risk rs373175587(T;T)
Alt rs373175587(T;T)
Reference Rs373175587(A;A)
Significance Pathogenic
Disease not specified Mental retardation
Variation info
Gene HERC2
CLNDBN not specified Mental retardation, autosomal recessive 38
Reversed 0
HGVS NC_000015.9:g.28375310A>T
CLNSRC
CLNACC RCV000454954.1, RCV000490894.1,