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rs1057518813

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(TC;TC) 0 common in clinvar
Make rs1057518813(-;-)
Make rs1057518813(-;CT)
Make rs1057518813(CT;CT)
ReferenceGRCh38.p7 38.3/150
Chromosome13
Position102873308
GeneBIVM-ERCC5, ERCC5
is asnp
is mentioned by
dbSNPrs1057518813
dbSNP (old)rs1057518813
ClinGenrs1057518813
ebirs1057518813
HLIrs1057518813
Exacrs1057518813
Gnomadrs1057518813
Varsomers1057518813
Maprs1057518813
PheGenIrs1057518813
Biobankrs1057518813
1000 genomesrs1057518813
hgdprs1057518813
ensemblrs1057518813
gopubmedrs1057518813
geneviewrs1057518813
scholarrs1057518813
googlers1057518813
pharmgkbrs1057518813
gwascentralrs1057518813
openSNPrs1057518813
23andMers1057518813
23andMe allrs1057518813
SNP Nexus

SNPshotrs1057518813
SNPdbers1057518813
MSV3drs1057518813
GWAS Ctlgrs1057518813
Max Magnitude0
ClinVar
Risk rs1057518813(-;-)
Alt rs1057518813(-;-)
Reference Rs1057518813(TC;TC)
Significance Probable-Pathogenic
Disease Abnormality of the corpus callosum Cerebellar atrophy Cognitive impairment Dysarthria Pectus excavatum Pes cavus Polyneuropathy Spastic paraplegia
Variation info
Gene BIVM-ERCC5 ERCC5
CLNDBN Abnormality of the corpus callosum Cerebellar atrophy Cognitive impairment Dysarthria Pectus excavatum Pes cavus Polyneuropathy Spastic paraplegia
Reversed 0
HGVS NC_000013.10:g.103525658_103525659delCT
CLNSRC
CLNACC RCV000415130.1,