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rs1057519491

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1057519491(-;GGGCT)
Make rs1057519491(GGGCT;GGGCT)
ReferenceGRCh38.p7 38.3/150
Chromosome8
Position81671011
GeneIMPA1
is asnp
is mentioned by
dbSNPrs1057519491
dbSNP (old)rs1057519491
ClinGenrs1057519491
ebirs1057519491
HLIrs1057519491
Exacrs1057519491
Gnomadrs1057519491
Varsomers1057519491
Maprs1057519491
PheGenIrs1057519491
Biobankrs1057519491
1000 genomesrs1057519491
hgdprs1057519491
ensemblrs1057519491
gopubmedrs1057519491
geneviewrs1057519491
scholarrs1057519491
googlers1057519491
pharmgkbrs1057519491
gwascentralrs1057519491
openSNPrs1057519491
23andMers1057519491
23andMe allrs1057519491
SNPshotrs1057519491
SNPdbers1057519491
MSV3drs1057519491
GWAS Ctlgrs1057519491
Max Magnitude0
ClinVar
Risk rs1057519491(GGGCT;GGGCT)
Alt rs1057519491(GGGCT;GGGCT)
Reference Rs1057519491(-;-)
Significance Pathogenic
Disease Mental retardation
Variation info
Gene IMPA1
CLNDBN Mental retardation, autosomal recessive 59
Reversed 1
HGVS NC_000008.10:g.82583247_82583251dupAGCCC
CLNSRC OMIM Allelic Variant
CLNACC RCV000416531.2,