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rs150584960

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs150584960(C;T)
Make rs150584960(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome19
Position45421315
GeneERCC1
is asnp
is mentioned by
dbSNPrs150584960
dbSNP (old)rs150584960
ClinGenrs150584960
ebirs150584960
HLIrs150584960
Exacrs150584960
Gnomadrs150584960
Varsomers150584960
Maprs150584960
PheGenIrs150584960
Biobankrs150584960
1000 genomesrs150584960
hgdprs150584960
ensemblrs150584960
gopubmedrs150584960
geneviewrs150584960
scholarrs150584960
googlers150584960
pharmgkbrs150584960
gwascentralrs150584960
openSNPrs150584960
23andMers150584960
23andMe allrs150584960
SNPshotrs150584960
SNPdbers150584960
MSV3drs150584960
GWAS Ctlgrs150584960
Max Magnitude0
ClinVar
Risk rs150584960(A;A) rs150584960(T;T)
Alt rs150584960(A;A) rs150584960(T;T)
Reference Rs150584960(C;C)
Significance Probable-Pathogenic
Disease Cerebrooculofacioskeletal syndrome 4
Variation info
Gene ERCC1
CLNDBN Cerebrooculofacioskeletal syndrome 4
Reversed 0
HGVS NC_000019.9:g.45924573C>A
CLNSRC
CLNACC RCV000490532.1,