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GVM
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Genome Assembly
Position and Type
Variant ID
dbSNP rsid
Reference Location
Variation Type
All
SNP
InDel
Consequence Type
HIGH
MODERATE
LOW
MODIFIER
Annotation Gene Information
Gene ID
Upstream
Downstream
Gene Symbol
Gramene ID
UniprotKB
Biotype
mRNA
rRNA
miRNA
Ontology Term
Ontology Key Words
Minor Allele Frequency
MAF
>=
<=
=
(0-0.5)
ClinVar Traits
Effect
affects
benign
likely benign
likely pathogenic
pathogenic
uncertain significance
association
drug response
not reported for simple variant
protective
risk factor
other
Initial
A(617)
B(256)
C(790)
D(383)
E(256)
F(264)
G(261)
H(1215)
I(179)
J(50)
K(49)
L(264)
M(659)
N(201)
O(147)
P(540)
Q(2)
R(186)
S(485)
T(189)
U(37)
V(65)
W(60)
X(25)
Y(4)
Z(9)
Digit(29)
Other(3)
OMIM Traits
Initial
A(550)
B(245)
C(777)
D(300)
E(255)
F(200)
G(278)
H(1302)
I(136)
J(40)
K(36)
L(256)
M(708)
N(211)
O(142)
P(472)
R(189)
S(442)
T(206)
<
U(29)
V(66)
W(63)
X(14)
Y(2)
Z(2)
Digit(36)
GWAS-Catalog Traits
Ontology
immune system disease(EFO_0000540)
body weights and measures(EFO_0004324)
cancer(EFO_0000311)
cardiovascular disease(EFO_0000319)
cardiovascular measurement(EFO_0004298)
digestive system disease(EFO_0000405)
hematological measurement(EFO_0004503)
inflammatory biomarker measurement(EFO_0004872)
lipid or lipoprotein measurement(EFO_0005105)
liver enzyme measurement(EFO_0004582)
metabolic disease(EFO_0000589)
nervous system disease(EFO_0000618)
response to drug(GO_0042493)
other
Genotype to Phenotype
growth
drought tolerance
metabolite
agronomic traits
resistance
flowering time
forage quality
yield
Pfam
Pfam Accession
Pfam Name
Protein Id
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Search Results: 3019815
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VarID
Position
Alleles
MAF
Consequence Type|Effect
Gene
dbSNP
Database
hsa13797214
1:10397-10403
CCCCTAA/C
C:0.0067
hsa13797215
1:10431
T/*,TA
TA:0.0025
hsa13797218
1:10446
A/AC
AC:0.0049
hsa13797219
1:10468
T/TAA
TAA:0.0101
hsa13797220
1:10471-10473
CGG/C
C:0.0097
hsa13797221
1:10474
T/TAACCCTA
TAACCCTA:0.0046
hsa13797222
1:10815
T/TC
T:0.0000
hsa13797223
1:13417
C/CGAGA
CGAGA:0.0238
hsa13797224
1:13656-13658
CAG/C
C:0.0617
hsa13797226
1:15903
G/GC
G:0.1364
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