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rs758595075

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs758595075(A;A)
Make rs758595075(A;G)
ReferenceGRCh38.p7 38.3/149
Chromosome1
Position225921590
GeneMIR6741, PYCR2
is asnp
is mentioned by
dbSNPrs758595075
dbSNP (classic)rs758595075
ClinGenrs758595075
ebirs758595075
HLIrs758595075
Exacrs758595075
Gnomadrs758595075
Varsomers758595075
LitVarrs758595075
Maprs758595075
PheGenIrs758595075
Biobankrs758595075
1000 genomesrs758595075
hgdprs758595075
ensemblrs758595075
geneviewrs758595075
scholarrs758595075
googlers758595075
pharmgkbrs758595075
gwascentralrs758595075
openSNPrs758595075
23andMers758595075
SNPshotrs758595075
SNPdbers758595075
MSV3drs758595075
GWAS Ctlgrs758595075
Max Magnitude0
ClinVar
Risk rs758595075(A;A) rs758595075(T;T)
Alt rs758595075(A;A) rs758595075(T;T)
Reference Rs758595075(G;G)
Significance Pathogenic
Disease Leukodystrophy
Variation info
Gene PYCR2 MIR6741
CLNDBN Leukodystrophy, hypomyelinating, 10
Reversed 0
HGVS NC_000001.10:g.226109290G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000240857.1,