rs1057517697

Orientation

plus

Stabilized

plus

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

Make rs1057517697(C;T)

Make rs1057517697(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

12

Position

88195521

Gene

TMTC3

is a	snp
is	mentioned by
dbSNP	rs1057517697
dbSNP (classic)	rs1057517697
ClinGen	rs1057517697
ebi	rs1057517697
HLI	rs1057517697
Exac	rs1057517697
Gnomad	rs1057517697
Varsome	rs1057517697
LitVar	rs1057517697
Map	rs1057517697
PheGenI	rs1057517697
Biobank	rs1057517697
1000 genomes	rs1057517697
hgdp	rs1057517697
ensembl	rs1057517697
geneview	rs1057517697
scholar	rs1057517697
google	rs1057517697
pharmgkb	rs1057517697
gwascentral	rs1057517697
openSNP	rs1057517697
23andMe	rs1057517697
SNPshot	rs1057517697
SNPdbe	rs1057517697
MSV3d	rs1057517697
GWAS Ctlg	rs1057517697

Max Magnitude

0

ClinVar
Risk	rs1057517697(T;T)
Alt	rs1057517697(T;T)
Reference	Rs1057517697(C;C)
Significance	Pathogenic
Disease	Lissencephaly 8
Variation	info
Gene	TMTC3
CLNDBN	Lissencephaly 8
Reversed	0
HGVS	NC_000012.11:g.88589298C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000412534.1,