rs1057517688

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar

Make rs1057517688(C;T)

Make rs1057517688(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

1

Position

39965333

Gene

MFSD2A

is a	snp
is	mentioned by
dbSNP	rs1057517688
dbSNP (classic)	rs1057517688
ClinGen	rs1057517688
ebi	rs1057517688
HLI	rs1057517688
Exac	rs1057517688
Gnomad	rs1057517688
Varsome	rs1057517688
LitVar	rs1057517688
Map	rs1057517688
PheGenI	rs1057517688
Biobank	rs1057517688
1000 genomes	rs1057517688
hgdp	rs1057517688
ensembl	rs1057517688
geneview	rs1057517688
scholar	rs1057517688
google	rs1057517688
pharmgkb	rs1057517688
gwascentral	rs1057517688
openSNP	rs1057517688
23andMe	rs1057517688
SNPshot	rs1057517688
SNPdbe	rs1057517688
MSV3d	rs1057517688
GWAS Ctlg	rs1057517688

Max Magnitude

0

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,