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rs587777695

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 5 acromelic frontonasal dysostosis possible
Make rs587777695(T;T)
ReferenceGRCh38 38.1/142
Chromosome5
Position61544156
GeneZSWIM6
is asnp
is mentioned by
dbSNPrs587777695
ebirs587777695
HLIrs587777695
Exacrs587777695
Varsomers587777695
Maprs587777695
PheGenIrs587777695
hapmaprs587777695
1000 genomesrs587777695
hgdprs587777695
ensemblrs587777695
gopubmedrs587777695
geneviewrs587777695
scholarrs587777695
googlers587777695
pharmgkbrs587777695
gwascentralrs587777695
openSNPrs587777695
23andMers587777695
23andMe allrs587777695
SNP Nexus

SNPshotrs587777695
SNPdbers587777695
MSV3drs587777695
GWAS Ctlgrs587777695
Max Magnitude5

rs587777695, also known as R1163W, is a mutation in the ZSWIM6 gene on chromosome 5.

See OMIM 615951.0001


ClinVar
Risk rs587777695(T;T)
Alt rs587777695(T;T)
Reference rs587777695(C;C)
Significance Pathogenic
Disease Acromelic frontonasal dysostosis
Variation info
Gene ZSWIM6
CLNDBN Acromelic frontonasal dysostosis
Reversed 0
HGVS NC_000005.9:g.60839983C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000143865.3,