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rs1057517674

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057517674(A;A)
Make rs1057517674(A;T)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position11676926
GeneMAD2L2
is asnp
is mentioned by
dbSNPrs1057517674
dbSNP (classic)rs1057517674
ClinGenrs1057517674
ebirs1057517674
HLIrs1057517674
Exacrs1057517674
Gnomadrs1057517674
Varsomers1057517674
LitVarrs1057517674
Maprs1057517674
PheGenIrs1057517674
Biobankrs1057517674
1000 genomesrs1057517674
hgdprs1057517674
ensemblrs1057517674
geneviewrs1057517674
scholarrs1057517674
googlers1057517674
pharmgkbrs1057517674
gwascentralrs1057517674
openSNPrs1057517674
23andMers1057517674
23andMe allrs1057517674
SNPshotrs1057517674
SNPdbers1057517674
MSV3drs1057517674
GWAS Ctlgrs1057517674
Max Magnitude0
ClinVar
Risk rs1057517674(A;A)
Alt rs1057517674(A;A)
Reference Rs1057517674(T;T)
Significance Pathogenic
Disease Fanconi anemia
Variation info
Gene MAD2L2
CLNDBN Fanconi anemia, complementation group V
Reversed 1
HGVS NC_000001.10:g.11736983A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000412563.1,