rs121917904

Orientation

minus

Stabilized

minus

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

Make rs121917904(C;T)

Make rs121917904(T;T)

Reference

GRCh38 38.1/141

Chromosome

10

Position

49482809

Gene

ERCC6

is a	snp
is	mentioned by
dbSNP	rs121917904
dbSNP (classic)	rs121917904
ClinGen	rs121917904
ebi	rs121917904
HLI	rs121917904
Exac	rs121917904
Gnomad	rs121917904
Varsome	rs121917904
LitVar	rs121917904
Map	rs121917904
PheGenI	rs121917904
Biobank	rs121917904
1000 genomes	rs121917904
hgdp	rs121917904
ensembl	rs121917904
geneview	rs121917904
scholar	rs121917904
google	rs121917904
pharmgkb	rs121917904
gwascentral	rs121917904
openSNP	rs121917904
23andMe	rs121917904
SNPshot	rs121917904
SNPdbe	rs121917904
MSV3d	rs121917904
GWAS Ctlg	rs121917904

Max Magnitude

0

OMIM	609413
Desc
Variant	0012
Related	also

ClinVar
Risk	rs121917904(T;T)
Alt	rs121917904(T;T)
Reference	Rs121917904(C;C)
Significance	Pathogenic
Disease	Cerebro-oculo-facio-skeletal syndrome ERCC6-Related Disorders
Variation	info
Gene	ERCC6
CLNDBN	Cerebro-oculo-facio-skeletal syndrome ERCC6-Related Disorders
Reversed	1
HGVS	NC_000010.10:g.50690855G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000001781.4, RCV000333649.1,