rs1057518813

Orientation

plus

Stabilized

plus

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

Make rs1057518813(-;-)

Make rs1057518813(-;CT)

Make rs1057518813(CT;CT)

Reference

GRCh38.p7 38.3/150

Chromosome

13

Position

102873308

Gene	BIVM-ERCC5, ERCC5

is a	snp
is	mentioned by
dbSNP	rs1057518813
dbSNP (classic)	rs1057518813
ClinGen	rs1057518813
ebi	rs1057518813
HLI	rs1057518813
Exac	rs1057518813
Gnomad	rs1057518813
Varsome	rs1057518813
LitVar	rs1057518813
Map	rs1057518813
PheGenI	rs1057518813
Biobank	rs1057518813
1000 genomes	rs1057518813
hgdp	rs1057518813
ensembl	rs1057518813
geneview	rs1057518813
scholar	rs1057518813
google	rs1057518813
pharmgkb	rs1057518813
gwascentral	rs1057518813
openSNP	rs1057518813
23andMe	rs1057518813
SNPshot	rs1057518813
SNPdbe	rs1057518813
MSV3d	rs1057518813
GWAS Ctlg	rs1057518813

Max Magnitude

0

ClinVar
Risk	rs1057518813(-;-)
Alt	rs1057518813(-;-)
Reference	Rs1057518813(TC;TC)
Significance	Probable-Pathogenic
Disease	Abnormality of the corpus callosum Cerebellar atrophy Cognitive impairment Dysarthria Pectus excavatum Pes cavus Polyneuropathy Spastic paraplegia
Variation	info
Gene	BIVM-ERCC5 ERCC5
CLNDBN	Abnormality of the corpus callosum Cerebellar atrophy Cognitive impairment Dysarthria Pectus excavatum Pes cavus Polyneuropathy Spastic paraplegia
Reversed	0
HGVS	NC_000013.10:g.103525658_103525659delCT
CLNSRC
CLNACC	RCV000415130.1,