rs121917784

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 rs121917784(T;T)

Reference

GRCh38 38.1/141

Chromosome

9

Position

95249255

Gene

FANCC

is a	snp
is	mentioned by
dbSNP	rs121917784
dbSNP (classic)	rs121917784
ClinGen	rs121917784
ebi	rs121917784
HLI	rs121917784
Exac	rs121917784
Gnomad	rs121917784
Varsome	rs121917784
LitVar	rs121917784
Map	rs121917784
PheGenI	rs121917784
Biobank	rs121917784
1000 genomes	rs121917784
hgdp	rs121917784
ensembl	rs121917784
geneview	rs121917784
scholar	rs121917784
google	rs121917784
pharmgkb	rs121917784
gwascentral	rs121917784
openSNP	rs121917784
23andMe	rs121917784
SNPshot	rs121917784
SNPdbe	rs121917784
MSV3d	rs121917784
GWAS Ctlg	rs121917784

Max Magnitude

3

aka c.37C>T (p.Gln13Ter or Q13X)

OMIM	227645
Desc
Variant	0004
Related	also

ClinVar
Risk	rs121917784(T;T)
Alt	rs121917784(T;T)
Reference	Rs121917784(C;C)
Significance	Other
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.98011537G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000012826.6, RCV000115351.4, RCV000476519.1,