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rs138608489

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;C) 6 BRCA1 variant considered pathogenic for breast cancer
(C;C) 0 common in clinvar


Make rs138608489(A;A)
ReferenceGRCh38.p2 38.2/144
Chromosome17
Position43076504
GeneBRCA1
is asnp
is mentioned by
dbSNPrs138608489
ClinGenrs138608489
ebirs138608489
HLIrs138608489
Exacrs138608489
Varsomers138608489
Maprs138608489
PheGenIrs138608489
hapmaprs138608489
1000 genomesrs138608489
hgdprs138608489
ensemblrs138608489
gopubmedrs138608489
geneviewrs138608489
scholarrs138608489
googlers138608489
pharmgkbrs138608489
gwascentralrs138608489
openSNPrs138608489
23andMers138608489
23andMe allrs138608489
SNP Nexus

SNPshotrs138608489
SNPdbers138608489
MSV3drs138608489
GWAS Ctlgrs138608489
Max Magnitude6

c.4468G>T (p.Glu1490Ter) {ClinVar |ALT=A |CHROM=17 |CLNACC=RCV000149887.1; RCV000241381.1 |CLNALLE=1 |CLNDBN=Hereditary breast and ovarian cancer syndrome; Breast-ovarian cancer, familial 1 |CLNDSDB=MedGen:Orphanet; MedGen:OMIM |CLNDSDBID=C0677776:ORPHA145; C2676676:604370 |CLNHGVS=NC_000017.10:g.41228521C>A |CLNORIGIN=1 |CLNREVSTAT=single; exp |CLNSIG=5 |Disease=Hereditary breast and ovarian cancer syndrome; Breast-ovarian cancer |FwdALT=A |FwdREF=C |GENEINFO=BRCA1:672 |GENE_ID=672 |GENE_NAME=BRCA1 |REF=C |RSPOS=41228521 |Reversed=0 |SAO=0 |SSR=0 |Tags=NSN;REF;ASP;HD |VC=SNV |VP=0x050000000605000402000100 |WGT=1 |dbSNPBuildID=134 |rsid=138608489 }}


ClinVar
Risk rs138608489(A;A)
Alt rs138608489(A;A)
Reference Rs138608489(C;C)
Significance Pathogenic
Disease Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 1
Reversed 0
HGVS NC_000017.10:g.41228521C>A
CLNSRC
CLNACC RCV000149887.2, RCV000241381.1,