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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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All
VarID
Position
Alleles
MAF
Consequence Type|Effect
Gene
dbSNP
Database
hsa277
1:715348
T/G
T:0.0000
upstream_gene_variant|MODIFIER;
ENSG00000228327
(RP11-206L10.2)
rs3131984
upstream_gene_variant|MODIFIER; intron_variant|MODIFIER; non_coding_transcript_variant|MODIFIER;
ENSG00000237491
(RP11-206L10.9)
hsa543
1:758324
T/C
T:0.0000
downstream_gene_variant|MODIFIER;
ENSG00000177757
(FAM87B)
rs3131955
downstream_gene_variant|MODIFIER;
ENSG00000225880
(LINC00115)
upstream_gene_variant|MODIFIER;
ENSG00000228794
(LINC01128)
hsa638
1:775426
G/A
G:0.0000
intron_variant|MODIFIER; non_coding_transcript_variant|MODIFIER;
ENSG00000228794
(LINC01128)
rs2905037
hsa650
1:778569
A/G
A:0.0000
intron_variant|MODIFIER; non_coding_transcript_variant|MODIFIER; downstream_gene_variant|MODIFIER;
ENSG00000228794
(LINC01128)
rs2977615
hsa658
1:780027
G/T
G:0.0000
intron_variant|MODIFIER; non_coding_transcript_variant|MODIFIER; downstream_gene_variant|MODIFIER;
ENSG00000228794
(LINC01128)
rs2977613
hsa762
1:799463
T/C
T:0.0000
downstream_gene_variant|MODIFIER;
ENSG00000228794
(LINC01128)
rs4245756
downstream_gene_variant|MODIFIER;
ENSG00000230368
(FAM41C)
hsa803
1:807512
A/G
A:0.0000
intron_variant|MODIFIER; non_coding_transcript_variant|MODIFIER; upstream_gene_variant|MODIFIER;
ENSG00000230368
(FAM41C)
rs10751454
upstream_gene_variant|MODIFIER;
ENSG00000234711
(TUBB8P11)
hsa822
1:812751
T/C
T:0.0000
upstream_gene_variant|MODIFIER;
ENSG00000230368
(FAM41C)
rs4246500
downstream_gene_variant|MODIFIER;
ENSG00000234711
(TUBB8P11)
hsa1413
1:842825
A/G
A:0.0000
upstream_gene_variant|MODIFIER;
ENSG00000230699
(RP11-54O7.1)
rs7519340
intron_variant|MODIFIER; non_coding_transcript_variant|MODIFIER;
ENSG00000272438
(RP11-54O7.16)
hsa1434
1:847250
G/A
G:0.0000
downstream_gene_variant|MODIFIER;
ENSG00000223764
(RP11-54O7.3)
rs7416129
intron_variant|MODIFIER; non_coding_transcript_variant|MODIFIER;
ENSG00000230699
(RP11-54O7.1)
upstream_gene_variant|MODIFIER;
ENSG00000241180
(RP11-54O7.2)
intron_variant|MODIFIER; non_coding_transcript_variant|MODIFIER;
ENSG00000272438
(RP11-54O7.16)
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