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

rs752317971

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs752317971(A;A)
Make rs752317971(A;C)
ReferenceGRCh38.p7 38.3/149
Chromosome10
Position104043852
GeneCOL17A1
is asnp
is mentioned by
dbSNPrs752317971
dbSNP (classic)rs752317971
ClinGenrs752317971
ebirs752317971
HLIrs752317971
Exacrs752317971
Gnomadrs752317971
Varsomers752317971
LitVarrs752317971
Maprs752317971
PheGenIrs752317971
Biobankrs752317971
1000 genomesrs752317971
hgdprs752317971
ensemblrs752317971
geneviewrs752317971
scholarrs752317971
googlers752317971
pharmgkbrs752317971
gwascentralrs752317971
openSNPrs752317971
23andMers752317971
23andMe allrs752317971
SNPshotrs752317971
SNPdbers752317971
MSV3drs752317971
GWAS Ctlgrs752317971
Max Magnitude0
ClinVar
Risk rs752317971(A;A) rs752317971(G;G)
Alt rs752317971(A;A) rs752317971(G;G)
Reference Rs752317971(C;C)
Significance Pathogenic
Disease Epidermolysis bullosa not provided
Variation info
Gene COL17A1
CLNDBN Epidermolysis bullosa, junctional not provided
Reversed 0
HGVS NC_000010.10:g.105803610C>A
CLNSRC Illumina
CLNACC RCV000376543.1, RCV000493431.1,