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rs749720760

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs749720760(C;C)
Make rs749720760(C;T)
ReferenceGRCh38.p7 38.3/150
Chromosome16
Position8801823
GenePMM2
is asnp
is mentioned by
dbSNPrs749720760
dbSNP (classic)rs749720760
ClinGenrs749720760
ebirs749720760
HLIrs749720760
Exacrs749720760
Gnomadrs749720760
Varsomers749720760
LitVarrs749720760
Maprs749720760
PheGenIrs749720760
Biobankrs749720760
1000 genomesrs749720760
hgdprs749720760
ensemblrs749720760
geneviewrs749720760
scholarrs749720760
googlers749720760
pharmgkbrs749720760
gwascentralrs749720760
openSNPrs749720760
23andMers749720760
SNPshotrs749720760
SNPdbers749720760
MSV3drs749720760
GWAS Ctlgrs749720760
Max Magnitude0
ClinVar
Risk rs749720760(C;C)
Alt rs749720760(C;C)
Reference Rs749720760(T;T)
Significance Probable-Pathogenic
Disease not provided
Variation info
Gene PMM2
CLNDBN not provided
Reversed 0
HGVS NC_000016.9:g.8895680T>C
CLNSRC
CLNACC RCV000487831.1,