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rs104894950

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894950(G;T)
Make rs104894950(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position38681258
GeneTSPAN7
is asnp
is mentioned by
dbSNPrs104894950
dbSNP (old)rs104894950
ClinGenrs104894950
ebirs104894950
HLIrs104894950
Exacrs104894950
Gnomadrs104894950
Varsomers104894950
Maprs104894950
PheGenIrs104894950
Biobankrs104894950
1000 genomesrs104894950
hgdprs104894950
ensemblrs104894950
gopubmedrs104894950
geneviewrs104894950
scholarrs104894950
googlers104894950
pharmgkbrs104894950
gwascentralrs104894950
openSNPrs104894950
23andMers104894950
23andMe allrs104894950
SNP Nexus

SNPshotrs104894950
SNPdbers104894950
MSV3drs104894950
GWAS Ctlgrs104894950
Max Magnitude0
OMIM300096
Desc
Variant0001
Relatedalso
ClinVar
Risk rs104894950(T;T)
Alt rs104894950(T;T)
Reference Rs104894950(G;G)
Significance Pathogenic
Disease Mental retardation 58
Variation info
Gene TSPAN7
CLNDBN Mental retardation 58, X-linked
Reversed 0
HGVS NC_000023.10:g.38540512G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000012395.24,