rs587777678

Orientation

plus

Stabilized

minus

Geno	Mag	Summary
(AGGTAGAAACAAG;AGGTAGAAACAAG)	0	common in clinvar
(CTTGTTTCTACCT;CTTGTTTCTACCT)	0	common in clinvar
(CTTGTTTCTACCTA;CTTGTTTCTACCTA)	0	common in clinvar
(I;I)	0	common genotype

Make rs587777678(-;-)

Make rs587777678(-;AGGTAGAAACAAG)

Reference

GRCh38 38.1/142

Chromosome

18

Position

6956768

Gene	LAMA1, LOC101927188

is a	snp
is	mentioned by
dbSNP	rs587777678
dbSNP (classic)	rs587777678
ClinGen	rs587777678
ebi	rs587777678
HLI	rs587777678
Exac	rs587777678
Gnomad	rs587777678
Varsome	rs587777678
LitVar	rs587777678
Map	rs587777678
PheGenI	rs587777678
Biobank	rs587777678
1000 genomes	rs587777678
hgdp	rs587777678
ensembl	rs587777678
geneview	rs587777678
scholar	rs587777678
google	rs587777678
pharmgkb	rs587777678
gwascentral	rs587777678
openSNP	rs587777678
23andMe	rs587777678
SNPshot	rs587777678
SNPdbe	rs587777678
MSV3d	rs587777678
GWAS Ctlg	rs587777678

Max Magnitude

0

ClinVar
Risk	Rs587777678(AGGTAGAAACAAG;AGGTAGAAACAAG) rs587777678(-;-)
Alt	Rs587777678(AGGTAGAAACAAG;AGGTAGAAACAAG) rs587777678(-;-)
Reference	Rs587777678(CTTGTTTCTACCT;CTTGTTTCTACCT)
Significance	Pathogenic
Disease	Poretti-boltshauser syndrome
Variation	info
Gene	LOC101927188 LAMA1
CLNDBN	Poretti-boltshauser syndrome
Reversed	1
HGVS	NC_000018.9:g.6956767_6956779delAGGTAGAAACAAG
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000133605.5,