Have questions? Visit https://www.reddit.com/r/SNPedia

rs80338837

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs80338837(A;A)
Make rs80338837(A;C)
ReferenceGRCh38 38.1/141
ChromosomeX
Position154360243
GeneFLNA
is asnp
is mentioned by
dbSNPrs80338837
ebirs80338837
HLIrs80338837
Exacrs80338837
Varsomers80338837
Maprs80338837
PheGenIrs80338837
hapmaprs80338837
1000 genomesrs80338837
hgdprs80338837
ensemblrs80338837
gopubmedrs80338837
geneviewrs80338837
scholarrs80338837
googlers80338837
pharmgkbrs80338837
gwascentralrs80338837
openSNPrs80338837
23andMers80338837
23andMe allrs80338837
SNP Nexus

SNPshotrs80338837
SNPdbers80338837
MSV3drs80338837
GWAS Ctlgrs80338837
Max Magnitude0
ClinVar
Risk rs80338837(A;A)
Alt rs80338837(A;A)
Reference rs80338837(C;C)
Significance Pathogenic
Disease Melnick-Needles syndrome
Variation info
Gene FLNA
CLNDBN Melnick-Needles syndrome
Reversed 1
HGVS NC_000023.10:g.153588611G>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000020424.2,