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rs1060499744

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1060499744(A;G)
Make rs1060499744(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome8
Position38138822
GeneASH2L
is asnp
is mentioned by
dbSNPrs1060499744
dbSNP (old)rs1060499744
ClinGenrs1060499744
ebirs1060499744
HLIrs1060499744
Exacrs1060499744
Gnomadrs1060499744
Varsomers1060499744
Maprs1060499744
PheGenIrs1060499744
Biobankrs1060499744
1000 genomesrs1060499744
hgdprs1060499744
ensemblrs1060499744
gopubmedrs1060499744
geneviewrs1060499744
scholarrs1060499744
googlers1060499744
pharmgkbrs1060499744
gwascentralrs1060499744
openSNPrs1060499744
23andMers1060499744
23andMe allrs1060499744
SNPshotrs1060499744
SNPdbers1060499744
MSV3drs1060499744
GWAS Ctlgrs1060499744
Max Magnitude0
ClinVar
Risk rs1060499744(G;G)
Alt rs1060499744(G;G)
Reference Rs1060499744(A;A)
Significance Probable-Pathogenic
Disease Global developmental delay Intellectual disability
Variation info
Gene ASH2L
CLNDBN Global developmental delay Intellectual disability
Reversed 0
HGVS NC_000008.10:g.37996340A>G
CLNSRC
CLNACC RCV000454265.1,