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rs752921215

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs752921215(C;C)
Make rs752921215(C;G)
ReferenceGRCh38.p7 38.3/149
Chromosome17
Position80117015
GeneGAA
is asnp
is mentioned by
dbSNPrs752921215
dbSNP (classic)rs752921215
ClinGenrs752921215
ebirs752921215
HLIrs752921215
Exacrs752921215
Gnomadrs752921215
Varsomers752921215
LitVarrs752921215
Maprs752921215
PheGenIrs752921215
Biobankrs752921215
1000 genomesrs752921215
hgdprs752921215
ensemblrs752921215
geneviewrs752921215
scholarrs752921215
googlers752921215
pharmgkbrs752921215
gwascentralrs752921215
openSNPrs752921215
23andMers752921215
SNPshotrs752921215
SNPdbers752921215
MSV3drs752921215
GWAS Ctlgrs752921215
Max Magnitude0
ClinVar
Risk rs752921215(A;A) rs752921215(C;C) rs752921215(T;T)
Alt rs752921215(A;A) rs752921215(C;C) rs752921215(T;T)
Reference Rs752921215(G;G)
Significance Pathogenic
Disease not provided not specified
Variation info
Gene GAA
CLNDBN not provided not specified
Reversed 0
HGVS NC_000017.10:g.78090814G>A; NC_000017.10:g.78090814G>C; NC_000017.10:g.78090814G>T
CLNSRC UniProtKB (protein)
CLNACC RCV000302789.1, RCV000168666.2, RCV000313359.1,