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

rs78478128

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 5 G6PD deficiency
(C;G) 3 Carrier of G6PD deficiency mutation; variable expressivity
(G;G) 0 common in clinvar
ReferenceGRCh38 38.1/141
ChromosomeX
Position154536168
GeneG6PD
is asnp
is mentioned by
dbSNPrs78478128
dbSNP (old)rs78478128
ClinGenrs78478128
ebirs78478128
HLIrs78478128
Exacrs78478128
Varsomers78478128
Maprs78478128
PheGenIrs78478128
Biobankrs78478128
1000 genomesrs78478128
hgdprs78478128
ensemblrs78478128
gopubmedrs78478128
geneviewrs78478128
scholarrs78478128
googlers78478128
pharmgkbrs78478128
gwascentralrs78478128
openSNPrs78478128
23andMers78478128
23andMe allrs78478128
SNP Nexus

SNPshotrs78478128
SNPdbers78478128
MSV3drs78478128
GWAS Ctlgrs78478128
Max Magnitude5

aka c.221C>G, p.Ala74Gly and A74G; G6PD Orissa (found originally in certain tribal populations in India)

23andMe name: i5008455
OMIM305900
Desc
Variant0047
Relatedalso
ClinVar
Risk Rs78478128(C;C)
Alt Rs78478128(C;C)
Reference Rs78478128(G;G)
Significance Other
Disease G6PD ORISSA
Variation info
Gene G6PD
CLNDBN G6PD ORISSA
Reversed 0
HGVS NC_000023.10:g.153764383G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000011149.1,