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rs1057518736

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057518736(A;A)
Make rs1057518736(A;G)
ReferenceGRCh38.p7 38.3/150
ChromosomeX
Position153798328
GeneSSR4
is asnp
is mentioned by
dbSNPrs1057518736
dbSNP (classic)rs1057518736
ClinGenrs1057518736
ebirs1057518736
HLIrs1057518736
Exacrs1057518736
Gnomadrs1057518736
Varsomers1057518736
LitVarrs1057518736
Maprs1057518736
PheGenIrs1057518736
Biobankrs1057518736
1000 genomesrs1057518736
hgdprs1057518736
ensemblrs1057518736
geneviewrs1057518736
scholarrs1057518736
googlers1057518736
pharmgkbrs1057518736
gwascentralrs1057518736
openSNPrs1057518736
23andMers1057518736
23andMe allrs1057518736
SNPshotrs1057518736
SNPdbers1057518736
MSV3drs1057518736
GWAS Ctlgrs1057518736
Max Magnitude0
ClinVar
Risk rs1057518736(A;A)
Alt rs1057518736(A;A)
Reference Rs1057518736(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.153063783G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000412598.1,