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rs1057517319

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(TTGT;TTGT) 0 common in clinvar
Make rs1057517319(-;-)
Make rs1057517319(-;TTTG)
Make rs1057517319(TTTG;TTTG)
ReferenceGRCh38.p7 38.3/150
Chromosome8
Position99135665
GeneVPS13B
is asnp
is mentioned by
dbSNPrs1057517319
dbSNP (classic)rs1057517319
ClinGenrs1057517319
ebirs1057517319
HLIrs1057517319
Exacrs1057517319
Gnomadrs1057517319
Varsomers1057517319
LitVarrs1057517319
Maprs1057517319
PheGenIrs1057517319
Biobankrs1057517319
1000 genomesrs1057517319
hgdprs1057517319
ensemblrs1057517319
geneviewrs1057517319
scholarrs1057517319
googlers1057517319
pharmgkbrs1057517319
gwascentralrs1057517319
openSNPrs1057517319
23andMers1057517319
23andMe allrs1057517319
SNPshotrs1057517319
SNPdbers1057517319
MSV3drs1057517319
GWAS Ctlgrs1057517319
Max Magnitude0
ClinVar
Risk rs1057517319(-;-)
Alt rs1057517319(-;-)
Reference Rs1057517319(TTGT;TTGT)
Significance Probable-Pathogenic
Disease Cohen syndrome
Variation info
Gene VPS13B
CLNDBN Cohen syndrome
Reversed 0
HGVS NC_000008.10:g.100147893_100147896delTTTG
CLNSRC
CLNACC RCV000409371.1,