rs1057517196

Orientation

plus

Stabilized

plus

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

Make rs1057517196(CCT;CCT)

Make rs1057517196(CCT;GCTA)

Reference

GRCh38.p7 38.3/150

Chromosome

18

Position

23905614

Gene

LAMA3

is a	snp
is	mentioned by
dbSNP	rs1057517196
dbSNP (classic)	rs1057517196
ClinGen	rs1057517196
ebi	rs1057517196
HLI	rs1057517196
Exac	rs1057517196
Gnomad	rs1057517196
Varsome	rs1057517196
LitVar	rs1057517196
Map	rs1057517196
PheGenI	rs1057517196
Biobank	rs1057517196
1000 genomes	rs1057517196
hgdp	rs1057517196
ensembl	rs1057517196
geneview	rs1057517196
scholar	rs1057517196
google	rs1057517196
pharmgkb	rs1057517196
gwascentral	rs1057517196
openSNP	rs1057517196
23andMe	rs1057517196
SNPshot	rs1057517196
SNPdbe	rs1057517196
MSV3d	rs1057517196
GWAS Ctlg	rs1057517196

Max Magnitude

0

ClinVar
Risk	rs1057517196(CCT;CCT)
Alt	rs1057517196(CCT;CCT)
Reference	Rs1057517196(GCTA;GCTA)
Significance	Probable-Pathogenic
Disease	Junctional epidermolysis bullosa gravis of Herlitz
Variation	info
Gene	LAMA3
CLNDBN	Junctional epidermolysis bullosa gravis of Herlitz
Reversed	0
HGVS	NC_000018.9:g.21485578_21485581delGCTAinsCCT
CLNSRC
CLNACC	RCV000409194.1,