rs185142838

Orientation

plus

Stabilized

plus

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

Make rs185142838(A;A)

Make rs185142838(A;G)

Reference

GRCh38 38.1/141

Chromosome

10

Position

49461473

Gene

ERCC6

is a	snp
is	mentioned by
dbSNP	rs185142838
dbSNP (classic)	rs185142838
ClinGen	rs185142838
ebi	rs185142838
HLI	rs185142838
Exac	rs185142838
Gnomad	rs185142838
Varsome	rs185142838
LitVar	rs185142838
Map	rs185142838
PheGenI	rs185142838
Biobank	rs185142838
1000 genomes	rs185142838
hgdp	rs185142838
ensembl	rs185142838
geneview	rs185142838
scholar	rs185142838
google	rs185142838
pharmgkb	rs185142838
gwascentral	rs185142838
openSNP	rs185142838
23andMe	rs185142838
SNPshot	rs185142838
SNPdbe	rs185142838
MSV3d	rs185142838
GWAS Ctlg	rs185142838

GMAF

0.0004591

Max Magnitude

0

ClinVar
Risk	rs185142838(A;A)
Alt	rs185142838(A;A)
Reference	Rs185142838(G;G)
Significance	Pathogenic
Disease	Cerebro-oculo-facio-skeletal syndrome
Variation	info
Gene	ERCC6
CLNDBN	Cerebro-oculo-facio-skeletal syndrome
Reversed	0
HGVS	NC_000010.10:g.50669519G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000024284.5,