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rs1057517689

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057517689(C;T)
Make rs1057517689(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position39965490
GeneMFSD2A
is asnp
is mentioned by
dbSNPrs1057517689
dbSNP (old)rs1057517689
ClinGenrs1057517689
ebirs1057517689
HLIrs1057517689
Exacrs1057517689
Gnomadrs1057517689
Varsomers1057517689
Maprs1057517689
PheGenIrs1057517689
Biobankrs1057517689
1000 genomesrs1057517689
hgdprs1057517689
ensemblrs1057517689
gopubmedrs1057517689
geneviewrs1057517689
scholarrs1057517689
googlers1057517689
pharmgkbrs1057517689
gwascentralrs1057517689
openSNPrs1057517689
23andMers1057517689
23andMe allrs1057517689
SNPshotrs1057517689
SNPdbers1057517689
MSV3drs1057517689
GWAS Ctlgrs1057517689
Max Magnitude0
ClinVar
Risk rs1057517689(T;T)
Alt rs1057517689(T;T)
Reference Rs1057517689(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.40431162C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000412624.1,