rs1057517698

Orientation

plus

Stabilized

plus

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

Make rs1057517698(A;A)

Make rs1057517698(A;G)

Reference

GRCh38.p7 38.3/150

Chromosome

12

Position

88148318

Gene

TMTC3

is a	snp
is	mentioned by
dbSNP	rs1057517698
dbSNP (classic)	rs1057517698
ClinGen	rs1057517698
ebi	rs1057517698
HLI	rs1057517698
Exac	rs1057517698
Gnomad	rs1057517698
Varsome	rs1057517698
LitVar	rs1057517698
Map	rs1057517698
PheGenI	rs1057517698
Biobank	rs1057517698
1000 genomes	rs1057517698
hgdp	rs1057517698
ensembl	rs1057517698
geneview	rs1057517698
scholar	rs1057517698
google	rs1057517698
pharmgkb	rs1057517698
gwascentral	rs1057517698
openSNP	rs1057517698
23andMe	rs1057517698
SNPshot	rs1057517698
SNPdbe	rs1057517698
MSV3d	rs1057517698
GWAS Ctlg	rs1057517698

Max Magnitude

0

ClinVar
Risk	rs1057517698(A;A)
Alt	rs1057517698(A;A)
Reference	Rs1057517698(G;G)
Significance	Pathogenic
Disease	Lissencephaly 8
Variation	info
Gene	TMTC3
CLNDBN	Lissencephaly 8
Reversed	0
HGVS	NC_000012.11:g.88542095G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000412567.1,