rs121917905

Orientation

minus

Stabilized

minus

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

Make rs121917905(C;C)

Make rs121917905(C;T)

Reference

GRCh38 38.1/141

Chromosome

10

Position

49471085

Gene

ERCC6

is a	snp
is	mentioned by
dbSNP	rs121917905
dbSNP (classic)	rs121917905
ClinGen	rs121917905
ebi	rs121917905
HLI	rs121917905
Exac	rs121917905
Gnomad	rs121917905
Varsome	rs121917905
LitVar	rs121917905
Map	rs121917905
PheGenI	rs121917905
Biobank	rs121917905
1000 genomes	rs121917905
hgdp	rs121917905
ensembl	rs121917905
geneview	rs121917905
scholar	rs121917905
google	rs121917905
pharmgkb	rs121917905
gwascentral	rs121917905
openSNP	rs121917905
23andMe	rs121917905
SNPshot	rs121917905
SNPdbe	rs121917905
MSV3d	rs121917905
GWAS Ctlg	rs121917905

Max Magnitude

0

OMIM	609413
Desc
Variant	0013
Related	also

ClinVar
Risk	rs121917905(C;C)
Alt	rs121917905(C;C)
Reference	Rs121917905(T;T)
Significance	Pathogenic
Disease	Cerebro-oculo-facio-skeletal syndrome
Variation	info
Gene	ERCC6
CLNDBN	Cerebro-oculo-facio-skeletal syndrome
Reversed	1
HGVS	NC_000010.10:g.50679131A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000001782.4,