rs121917783

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;T)	3	Carrier of a Fanconi anemia group C mutation

Make rs121917783(T;T)

Reference

GRCh38 38.1/141

Chromosome

9

Position

95150056

Gene

FANCC

is a	snp
is	mentioned by
dbSNP	rs121917783
dbSNP (classic)	rs121917783
ClinGen	rs121917783
ebi	rs121917783
HLI	rs121917783
Exac	rs121917783
Gnomad	rs121917783
Varsome	rs121917783
LitVar	rs121917783
Map	rs121917783
PheGenI	rs121917783
Biobank	rs121917783
1000 genomes	rs121917783
hgdp	rs121917783
ensembl	rs121917783
geneview	rs121917783
scholar	rs121917783
google	rs121917783
pharmgkb	rs121917783
gwascentral	rs121917783
openSNP	rs121917783
23andMe	rs121917783
SNPshot	rs121917783
SNPdbe	rs121917783
MSV3d	rs121917783
GWAS Ctlg	rs121917783

Max Magnitude

3

aka c.553C>T (p.Arg185Ter or R185X)

OMIM	227645
Desc
Variant	0002
Related	also

ClinVar
Risk	rs121917783(T;T)
Alt	rs121917783(T;T)
Reference	Rs121917783(C;C)
Significance	Pathogenic
Disease	Fanconi anemia not provided Fanconi anemia
Variation	info
Gene	FANCC
CLNDBN	Fanconi anemia, complementation group C not provided Fanconi anemia
Reversed	1
HGVS	NC_000009.11:g.97912338G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000012824.4, RCV000115356.3, RCV000471314.1,