rs387906262

Orientation

minus

Stabilized

minus

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

Make rs387906262(-;A)

Make rs387906262(A;A)

Reference

GRCh38 38.1/141

Chromosome

10

Position

49524457

Gene	ERCC6, PGBD3

is a	snp
is	mentioned by
dbSNP	rs387906262
dbSNP (classic)	rs387906262
ClinGen	rs387906262
ebi	rs387906262
HLI	rs387906262
Exac	rs387906262
Gnomad	rs387906262
Varsome	rs387906262
LitVar	rs387906262
Map	rs387906262
PheGenI	rs387906262
Biobank	rs387906262
1000 genomes	rs387906262
hgdp	rs387906262
ensembl	rs387906262
geneview	rs387906262
scholar	rs387906262
google	rs387906262
pharmgkb	rs387906262
gwascentral	rs387906262
openSNP	rs387906262
23andMe	rs387906262
SNPshot	rs387906262
SNPdbe	rs387906262
MSV3d	rs387906262
GWAS Ctlg	rs387906262

Max Magnitude

0

ClinVar
Risk	rs387906262(A;A)
Alt	rs387906262(A;A)
Reference	Rs387906262(-;-)
Significance	Pathogenic
Disease	Cockayne syndrome B
Variation	info
Gene	ERCC6 PGBD3
CLNDBN	Cockayne syndrome B
Reversed	1
HGVS	NC_000010.10:g.50732504dupT
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000001773.5,