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rs797044682

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(TGA;TGA) 0 common in clinvar
Make rs797044682(CAGG;CAGG)
Make rs797044682(CAGG;TGA)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position53195403
GeneKDM5C, MIR6895
is asnp
is mentioned by
dbSNPrs797044682
dbSNP (old)rs797044682
ClinGenrs797044682
ebirs797044682
HLIrs797044682
Exacrs797044682
Gnomadrs797044682
Varsomers797044682
Maprs797044682
PheGenIrs797044682
Biobankrs797044682
1000 genomesrs797044682
hgdprs797044682
ensemblrs797044682
gopubmedrs797044682
geneviewrs797044682
scholarrs797044682
googlers797044682
pharmgkbrs797044682
gwascentralrs797044682
openSNPrs797044682
23andMers797044682
23andMe allrs797044682
SNP Nexus

SNPshotrs797044682
SNPdbers797044682
MSV3drs797044682
GWAS Ctlgrs797044682
Max Magnitude0
ClinVar
Risk rs797044682(CAGG;CAGG)
Alt rs797044682(CAGG;CAGG)
Reference Rs797044682(TGA;TGA)
Significance Pathogenic
Disease Mental retardation
Variation info
Gene KDM5C MIR6895
CLNDBN Mental retardation, syndromic, Claes-Jensen type, X-linked
Reversed 1
HGVS NC_000023.10:g.53224585_53224587delTCAinsCCTG
CLNSRC
CLNACC RCV000176207.1,