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rs749963147

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
(D;D) 0 common genotype
Make rs749963147(-;CCGG)
Make rs749963147(CCGG;CCGG)
ReferenceGRCh38.p2 38.2/147
Chromosome5
Position149027931
GeneSH3TC2
is asnp
is mentioned by
dbSNPrs749963147
dbSNP (classic)rs749963147
ClinGenrs749963147
ebirs749963147
HLIrs749963147
Exacrs749963147
Gnomadrs749963147
Varsomers749963147
LitVarrs749963147
Maprs749963147
PheGenIrs749963147
Biobankrs749963147
1000 genomesrs749963147
hgdprs749963147
ensemblrs749963147
geneviewrs749963147
scholarrs749963147
googlers749963147
pharmgkbrs749963147
gwascentralrs749963147
openSNPrs749963147
23andMers749963147
SNPshotrs749963147
SNPdbers749963147
MSV3drs749963147
GWAS Ctlgrs749963147
Max Magnitude0
ClinVar
Risk rs749963147(GGCC;GGCC)
Alt rs749963147(GGCC;GGCC)
Reference Rs749963147(-;-)
Significance Pathogenic
Disease not provided
Variation info
Gene SH3TC2
CLNDBN not provided
Reversed 0
HGVS NC_000005.9:g.148407495_148407498dupGGCC
CLNSRC
CLNACC RCV000235976.1,