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rs199753304

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199753304(C;T)
Make rs199753304(T;T)
ReferenceGRCh38 38.1/142
Chromosome17
Position69253793
GeneABCA5
is asnp
is mentioned by
dbSNPrs199753304
ebirs199753304
HLIrs199753304
Exacrs199753304
Varsomers199753304
Maprs199753304
PheGenIrs199753304
hapmaprs199753304
1000 genomesrs199753304
hgdprs199753304
ensemblrs199753304
gopubmedrs199753304
geneviewrs199753304
scholarrs199753304
googlers199753304
pharmgkbrs199753304
gwascentralrs199753304
openSNPrs199753304
23andMers199753304
23andMe allrs199753304
SNP Nexus

SNPshotrs199753304
SNPdbers199753304
MSV3drs199753304
GWAS Ctlgrs199753304
Max Magnitude0
ClinVar
Risk rs199753304(A,G,T;A,G,T)
Alt rs199753304(A,G,T;A,G,T)
Reference rs199753304(C;C)
Significance Pathogenic
Disease Gingival fibromatosis with hypertrichosis Inborn genetic diseases
Variation info
Gene ABCA5
CLNDBN Gingival fibromatosis with hypertrichosis Inborn genetic diseases
Reversed 0
HGVS NC_000017.10:g.67249934C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000128545.2, RCV000210729.1,