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rs1057519087

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057519087(C;T)
Make rs1057519087(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position39967632
GeneMFSD2A
is asnp
is mentioned by
dbSNPrs1057519087
dbSNP (old)rs1057519087
ClinGenrs1057519087
ebirs1057519087
HLIrs1057519087
Exacrs1057519087
Gnomadrs1057519087
Varsomers1057519087
Maprs1057519087
PheGenIrs1057519087
Biobankrs1057519087
1000 genomesrs1057519087
hgdprs1057519087
ensemblrs1057519087
gopubmedrs1057519087
geneviewrs1057519087
scholarrs1057519087
googlers1057519087
pharmgkbrs1057519087
gwascentralrs1057519087
openSNPrs1057519087
23andMers1057519087
23andMe allrs1057519087
SNPshotrs1057519087
SNPdbers1057519087
MSV3drs1057519087
GWAS Ctlgrs1057519087
Max Magnitude0
ClinVar
Risk rs1057519087(T;T)
Alt rs1057519087(T;T)
Reference Rs1057519087(C;C)
Significance Pathogenic
Disease Primary autosomal recessive microcephaly 15
Variation info
Gene MFSD2A
CLNDBN Primary autosomal recessive microcephaly 15
Reversed 0
HGVS NC_000001.10:g.40433304C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000412513.1,