rs80338749

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(ATTT;ATTT)	0	common in clinvar
(I;I)	0	common genotype
(TTAT;TTAT)	0	common in clinvar
(TTTA;TTTA)	0	common in complete genomics

Make rs80338749(-;-)

Make rs80338749(-;TTTA)

Reference

GRCh38 38.1/141

Chromosome

2

Position

169198845

Gene

LRP2

is a	snp
is	mentioned by
dbSNP	rs80338749
dbSNP (classic)	rs80338749
ClinGen	rs80338749
ebi	rs80338749
HLI	rs80338749
Exac	rs80338749
Gnomad	rs80338749
Varsome	rs80338749
LitVar	rs80338749
Map	rs80338749
PheGenI	rs80338749
Biobank	rs80338749
1000 genomes	rs80338749
hgdp	rs80338749
ensembl	rs80338749
geneview	rs80338749
scholar	rs80338749
google	rs80338749
pharmgkb	rs80338749
gwascentral	rs80338749
openSNP	rs80338749
23andMe	rs80338749
SNPshot	rs80338749
SNPdbe	rs80338749
MSV3d	rs80338749
GWAS Ctlg	rs80338749

Max Magnitude

0

ClinVar
Risk	rs80338749(-;-)
Alt	rs80338749(-;-)
Reference	Rs80338749(ATTT;ATTT)
Significance	Pathogenic
Disease	Donnai Barrow syndrome
Variation	info
Gene	LRP2
CLNDBN	Donnai Barrow syndrome
Reversed	1
HGVS	NC_000002.11:g.170055355_170055358delTAAA
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000010061.5,

[PMID 17632512] Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes.