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rs757953549

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 5.5 Hemophilia A (severity varies)
(A;G) 3 Carrier of a Factor V deficiency mutation
(G;G) 0 common in clinvar
Make rs757953549(G;T)
Make rs757953549(T;T)
ReferenceGRCh38.p7 38.3/149
Chromosome1
Position169542872
GeneF5
is asnp
is mentioned by
dbSNPrs757953549
dbSNP (classic)rs757953549
ClinGenrs757953549
ebirs757953549
HLIrs757953549
Exacrs757953549
Gnomadrs757953549
Varsomers757953549
LitVarrs757953549
Maprs757953549
PheGenIrs757953549
Biobankrs757953549
1000 genomesrs757953549
hgdprs757953549
ensemblrs757953549
geneviewrs757953549
scholarrs757953549
googlers757953549
pharmgkbrs757953549
gwascentralrs757953549
openSNPrs757953549
23andMers757953549
23andMe allrs757953549
SNPshotrs757953549
SNPdbers757953549
MSV3drs757953549
GWAS Ctlgrs757953549
Max Magnitude5.5
ClinVar
Risk Rs757953549(A;A) rs757953549(T;T)
Alt Rs757953549(A;A) rs757953549(T;T)
Reference Rs757953549(G;G)
Significance Probable-Pathogenic
Disease Factor V deficiency
Variation info
Gene F5
CLNDBN Factor V deficiency
Reversed 0
HGVS NC_000001.10:g.169512110G>A
CLNSRC Illumina
CLNACC RCV000284956.1,