rs104886458

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	5	Fanconi anemia
(C;T)	3	Carrier of a Fanconi anemia mutation
(T;T)	0	common in clinvar

Reference

GRCh38 38.1/141

Chromosome

9

Position

95101723

Gene	C9orf3, FANCC

is a	snp
is	mentioned by
dbSNP	rs104886458
dbSNP (classic)	rs104886458
ClinGen	rs104886458
ebi	rs104886458
HLI	rs104886458
Exac	rs104886458
Gnomad	rs104886458
Varsome	rs104886458
LitVar	rs104886458
Map	rs104886458
PheGenI	rs104886458
Biobank	rs104886458
1000 genomes	rs104886458
hgdp	rs104886458
ensembl	rs104886458
geneview	rs104886458
scholar	rs104886458
google	rs104886458
pharmgkb	rs104886458
gwascentral	rs104886458
openSNP	rs104886458
23andMe	rs104886458
SNPshot	rs104886458
SNPdbe	rs104886458
MSV3d	rs104886458
GWAS Ctlg	rs104886458

Max Magnitude

5

aka c.1661T>C (p.Leu554Pro or L554P)

OMIM	227645
Desc
Variant	0001
Related	also

ClinVar
Risk	Rs104886458(C;C)
Alt	Rs104886458(C;C)
Reference	Rs104886458(T;T)
Significance	Pathogenic
Disease	Fanconi anemia not provided
Variation	info
Gene	FANCC
CLNDBN	Fanconi anemia, complementation group C not provided
Reversed	1
HGVS	NC_000009.11:g.97864005A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000012823.4, RCV000058925.2,