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rs786203714

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 7 Fanconi anemia, complementation group N
(A;T) 3 2-4 fold higher risk for breast cancer, depending on family history
(T;T) 0 common in clinvar
ReferenceGRCh38.p2 38.2/146
Chromosome16
Position23635095
GenePALB2
is asnp
is mentioned by
dbSNPrs786203714
dbSNP (classic)rs786203714
ClinGenrs786203714
ebirs786203714
HLIrs786203714
Exacrs786203714
Gnomadrs786203714
Varsomers786203714
LitVarrs786203714
Maprs786203714
PheGenIrs786203714
Biobankrs786203714
1000 genomesrs786203714
hgdprs786203714
ensemblrs786203714
geneviewrs786203714
scholarrs786203714
googlers786203714
pharmgkbrs786203714
gwascentralrs786203714
openSNPrs786203714
23andMers786203714
SNPshotrs786203714
SNPdbers786203714
MSV3drs786203714
GWAS Ctlgrs786203714
Max Magnitude7
ClinVar
Risk Rs786203714(A;A)
Alt Rs786203714(A;A)
Reference Rs786203714(T;T)
Significance Pathogenic
Disease Hereditary cancer-predisposing syndrome Basal cell carcinoma Generalized hypopigmentation
Variation info
Gene PALB2
CLNDBN Hereditary cancer-predisposing syndrome Basal cell carcinoma Generalized hypopigmentation
Reversed 1
HGVS NC_000016.9:g.23646416A>T
CLNSRC
CLNACC RCV000167136.2, RCV000414940.1,