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rs75961395

From SNPedia

Cystic Fibrosis related
Orientationplus
Stabilizedplus
Geno Mag Summary
(A;G) 3 Cystic fibrosis allele (carrier)
(G;G) 0 common in clinvar


Make rs75961395(A;A)
ReferenceGRCh38 38.1/141
Chromosome7
Position117509123
GeneCFTR
is asnp
is mentioned by
dbSNPrs75961395
ebirs75961395
HLIrs75961395
Exacrs75961395
Varsomers75961395
Maprs75961395
PheGenIrs75961395
hapmaprs75961395
1000 genomesrs75961395
hgdprs75961395
ensemblrs75961395
gopubmedrs75961395
geneviewrs75961395
scholarrs75961395
googlers75961395
pharmgkbrs75961395
gwascentralrs75961395
openSNPrs75961395
23andMers75961395
23andMe allrs75961395
SNP Nexus

SNPshotrs75961395
SNPdbers75961395
MSV3drs75961395
GWAS Ctlgrs75961395
Max Magnitude3

Cystic fibrosis; c.254G>A, G85E or Gly85Glu

named i4000294 by 23andMe

OMIM602421
Desc
Variant0038
Relatedalso
ClinVar
Risk rs75961395(A,T;A,T)
Alt rs75961395(A,T;A,T)
Reference rs75961395(G;G)
Significance Pathogenic
Disease Cystic fibrosis not provided
Variation info
Gene CFTR
CLNDBN Cystic fibrosis not provided
Reversed 0
HGVS NC_000007.13:g.117149177G>A; NC_000007.13:g.117149177G>T
CLNSRC CFTR2 OMIM Allelic Variant
CLNACC RCV000007563.8, RCV000224170.1, RCV000046617.2,