rs121434324

Orientation

minus

Stabilized

minus

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

Make rs121434324(G;T)

Make rs121434324(T;T)

Reference

GRCh38 38.1/141

Chromosome

5

Position

60944972

Gene	ERCC8, NDUFAF2

is a	snp
is	mentioned by
dbSNP	rs121434324
dbSNP (classic)	rs121434324
ClinGen	rs121434324
ebi	rs121434324
HLI	rs121434324
Exac	rs121434324
Gnomad	rs121434324
Varsome	rs121434324
LitVar	rs121434324
Map	rs121434324
PheGenI	rs121434324
Biobank	rs121434324
1000 genomes	rs121434324
hgdp	rs121434324
ensembl	rs121434324
geneview	rs121434324
scholar	rs121434324
google	rs121434324
pharmgkb	rs121434324
gwascentral	rs121434324
openSNP	rs121434324
23andMe	rs121434324
SNPshot	rs121434324
SNPdbe	rs121434324
MSV3d	rs121434324
GWAS Ctlg	rs121434324

Max Magnitude

0

OMIM	609412
Desc
Variant	0003
Related	also

ClinVar
Risk	rs121434324(T;T)
Alt	rs121434324(T;T)
Reference	Rs121434324(G;G)
Significance	Pathogenic
Disease	Cockayne syndrome type A
Variation	info
Gene	NDUFAF2 ERCC8
CLNDBN	Cockayne syndrome type A
Reversed	1
HGVS	NC_000005.9:g.60240799C>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000001786.3,