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rs1057518735

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057518735(A;A)
Make rs1057518735(A;G)
ReferenceGRCh38.p7 38.3/150
ChromosomeX
Position153798137
GeneSSR4
is asnp
is mentioned by
dbSNPrs1057518735
dbSNP (old)rs1057518735
ClinGenrs1057518735
ebirs1057518735
HLIrs1057518735
Exacrs1057518735
Gnomadrs1057518735
Varsomers1057518735
Maprs1057518735
PheGenIrs1057518735
Biobankrs1057518735
1000 genomesrs1057518735
hgdprs1057518735
ensemblrs1057518735
gopubmedrs1057518735
geneviewrs1057518735
scholarrs1057518735
googlers1057518735
pharmgkbrs1057518735
gwascentralrs1057518735
openSNPrs1057518735
23andMers1057518735
23andMe allrs1057518735
SNPshotrs1057518735
SNPdbers1057518735
MSV3drs1057518735
GWAS Ctlgrs1057518735
Max Magnitude0
ClinVar
Risk rs1057518735(A;A)
Alt rs1057518735(A;A)
Reference Rs1057518735(G;G)
Significance Pathogenic
Disease Congenital disorder of glycosylation type 1y
Variation info
Gene SSR4
CLNDBN Congenital disorder of glycosylation type 1y
Reversed 0
HGVS NC_000023.10:g.153063592G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000412518.1,