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rs200990647

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs200990647(A;T)
Make rs200990647(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome19
Position46755970
GeneFKRP
is asnp
is mentioned by
dbSNPrs200990647
ebirs200990647
HLIrs200990647
Exacrs200990647
Varsomers200990647
Maprs200990647
PheGenIrs200990647
hapmaprs200990647
1000 genomesrs200990647
hgdprs200990647
ensemblrs200990647
gopubmedrs200990647
geneviewrs200990647
scholarrs200990647
googlers200990647
pharmgkbrs200990647
gwascentralrs200990647
openSNPrs200990647
23andMers200990647
23andMe allrs200990647
SNP Nexus

SNPshotrs200990647
SNPdbers200990647
MSV3drs200990647
GWAS Ctlgrs200990647
Max Magnitude0

minor allele should be reclassified as benign according to [PMID 26990548OA-icon.png]

ClinVar
Risk rs200990647(T;T)
Alt rs200990647(T;T)
Reference rs200990647(A;A)
Significance Other
Disease not specified Walker-Warburg syndrome
Variation info
Gene FKRP
CLNDBN not specified Walker-Warburg syndrome
Reversed 0
HGVS NC_000019.9:g.47259227A>T
CLNSRC HGMD
CLNACC RCV000173034.2, RCV000234733.1,