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rs1057517688

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057517688(C;T)
Make rs1057517688(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position39965333
GeneMFSD2A
is asnp
is mentioned by
dbSNPrs1057517688
dbSNP (old)rs1057517688
ClinGenrs1057517688
ebirs1057517688
HLIrs1057517688
Exacrs1057517688
Gnomadrs1057517688
Varsomers1057517688
Maprs1057517688
PheGenIrs1057517688
Biobankrs1057517688
1000 genomesrs1057517688
hgdprs1057517688
ensemblrs1057517688
gopubmedrs1057517688
geneviewrs1057517688
scholarrs1057517688
googlers1057517688
pharmgkbrs1057517688
gwascentralrs1057517688
openSNPrs1057517688
23andMers1057517688
23andMe allrs1057517688
SNPshotrs1057517688
SNPdbers1057517688
MSV3drs1057517688
GWAS Ctlgrs1057517688
Max Magnitude0
ClinVar
Risk rs1057517688(T;T)
Alt rs1057517688(T;T)
Reference Rs1057517688(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.40431005C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000412568.1,