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rs1057519609

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(TTC;TTC) 0 common in clinvar
Make rs1057519609(-;-)
Make rs1057519609(-;TTC)
ReferenceGRCh38.p7 38.3/150
ChromosomeX
Position101397950
GeneGLA, RPL36A-HNRNPH2
is asnp
is mentioned by
dbSNPrs1057519609
dbSNP (old)rs1057519609
ClinGenrs1057519609
ebirs1057519609
HLIrs1057519609
Exacrs1057519609
Gnomadrs1057519609
Varsomers1057519609
Maprs1057519609
PheGenIrs1057519609
Biobankrs1057519609
1000 genomesrs1057519609
hgdprs1057519609
ensemblrs1057519609
gopubmedrs1057519609
geneviewrs1057519609
scholarrs1057519609
googlers1057519609
pharmgkbrs1057519609
gwascentralrs1057519609
openSNPrs1057519609
23andMers1057519609
23andMe allrs1057519609
SNPshotrs1057519609
SNPdbers1057519609
MSV3drs1057519609
GWAS Ctlgrs1057519609
Max Magnitude0
ClinVar
Risk rs1057519609(-;-)
Alt rs1057519609(-;-)
Reference Rs1057519609(TTC;TTC)
Significance Pathogenic
Disease Fabry disease
Variation info
Gene RPL36A-HNRNPH2 GLA
CLNDBN Fabry disease
Reversed 1
HGVS NC_000023.10:g.100652938_100652940delGAA
CLNSRC OMIM Allelic Variant
CLNACC RCV000011512.4,