SNP Links for Gene (Select 79574) - SNP

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Select item 14908260771.

rs1490826077 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:109762840 (GRCh38)
1:110305462 (GRCh37)
Canonical SPDI:: NC_000001.11:109762839:G:T
Gene:: EPS8L3 (Varview), LOC124904258 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.109762840G>T, NC_000001.10:g.110305462G>T

Select item 14907325872.

rs1490732587 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:109758781 (GRCh38)
1:110301403 (GRCh37)
Canonical SPDI:: NC_000001.11:109758780:C:T
Gene:: EPS8L3 (Varview), LOC124904258 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000001.11:g.109758781C>T, NC_000001.10:g.110301403C>T

Select item 14906611743.

rs1490661174 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 1:109759877 (GRCh38)
1:110302499 (GRCh37)
Canonical SPDI:: NC_000001.11:109759876:A:T
Gene:: EPS8L3 (Varview), LOC124904258 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,5_prime_UTR_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.109759877A>T, NC_000001.10:g.110302499A>T, XM_011542135.4:c.-47T>A, XM_011542135.3:c.-47T>A, XM_011542135.2:c.-47T>A, XM_011542135.1:c.-47T>A, XM_047430369.1:c.-47T>A, XM_047430384.1:c.-47T>A, XM_047430382.1:c.-47T>A, XR_007066303.1:n.13A>T

Select item 14904831124.

rs1490483112 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:109764991 (GRCh38)
1:110307613 (GRCh37)
Canonical SPDI:: NC_000001.11:109764990:G:C
Gene:: EPS8L3 (Varview), LOC124904258 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000215/57 (TOPMED)
C=0.000335/47 (GnomAD)
HGVS:: NC_000001.11:g.109764991G>C, NC_000001.10:g.110307613G>C

Select item 14903503635.

rs1490350363 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:109765938 (GRCh38)
1:110308560 (GRCh37)
Canonical SPDI:: NC_000001.11:109765937:A:G
Gene:: LOC124904258 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.109765938A>G, NC_000001.10:g.110308560A>G

Select item 14902659696.

rs1490265969 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:109757263 (GRCh38)
1:110299885 (GRCh37)
Canonical SPDI:: NC_000001.11:109757262:G:A
Gene:: EPS8L3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.109757263G>A, NC_000001.10:g.110299885G>A

Select item 14900102677.

rs1490010267 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:109749942 (GRCh38)
1:110292564 (GRCh37)
Canonical SPDI:: NC_000001.11:109749941:G:A
Gene:: EPS8L3 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.109749942G>A, NC_000001.10:g.110292564G>A

Select item 14899969898.

rs1489996989 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:109764607 (GRCh38)
1:110307229 (GRCh37)
Canonical SPDI:: NC_000001.11:109764606:G:A
Gene:: EPS8L3 (Varview), LOC124904258 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.109764607G>A, NC_000001.10:g.110307229G>A

Select item 14899939329.

rs1489993932 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:109760073 (GRCh38)
1:110302695 (GRCh37)
Canonical SPDI:: NC_000001.11:109760072:G:C
Gene:: EPS8L3 (Varview), LOC124904258 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000054/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
C=0.000223/1 (Estonian)
HGVS:: NC_000001.11:g.109760073G>C, NC_000001.10:g.110302695G>C

Select item 148919996710.

rs1489199967 [Homo sapiens]

Variant type:: INS
Alleles:: ->CT [Show Flanks]
Chromosome:: 1:109751334 (GRCh38)
1:110293957 (GRCh37)
Canonical SPDI:: NC_000001.11:109751334::CT
Gene:: EPS8L3 (Varview)
Functional Consequence:: frameshift_variant,genic_downstream_transcript_variant,coding_sequence_variant,downstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: CT=0./0 (ALFA)
CT=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.109751334_109751335insCT, NC_000001.10:g.110293956_110293957insCT, NG_082147.1:g.1022_1023insCT, NM_133181.4:c.1580_1581insAG, NM_133181.3:c.1580_1581insAG, XM_011542135.4:c.1415_1416insAG, XM_011542135.3:c.1415_1416insAG, XM_011542135.2:c.1415_1416insAG, XM_011542135.1:c.1415_1416insAG, XM_011542134.4:c.1505_1506insAG, XM_011542134.3:c.1505_1506insAG, XM_011542134.2:c.1505_1506insAG, XM_011542134.1:c.1505_1506insAG, NM_024526.4:c.1490_1491insAG, NM_024526.3:c.1490_1491insAG, XM_011542132.3:c.1607_1608insAG, XM_011542132.2:c.1607_1608insAG, XM_011542132.1:c.1607_1608insAG, XM_011542133.3:c.1604_1605insAG, XM_011542133.2:c.1604_1605insAG, XM_011542133.1:c.1604_1605insAG, NM_139053.3:c.1583_1584insAG, NM_139053.2:c.1583_1584insAG, XM_017002328.3:c.1517_1518insAG, XM_017002328.2:c.1517_1518insAG, XM_017002328.1:c.1517_1518insAG, XM_017002329.3:c.1493_1494insAG, XM_017002329.2:c.1493_1494insAG, XM_017002329.1:c.1493_1494insAG, NM_001319952.2:c.1391_1392insAG, NM_001319952.1:c.1391_1392insAG, XM_047430369.1:c.1505_1506insAG, XM_047430384.1:c.1505_1506insAG, XM_047430382.1:c.1478_1479insAG, XM_047430379.1:c.1481_1482insAG, XM_047430380.1:c.1478_1479insAG, XR_007063682.1:n.1803_1804insAG, NP_573444.2:p.Ser528fs, XP_011540437.1:p.Ser473fs, XP_011540436.1:p.Ser503fs, NP_078802.2:p.Ser498fs, XP_011540434.1:p.Ser537fs, XP_011540435.1:p.Ser536fs, NP_620641.1:p.Ser529fs, XP_016857817.1:p.Ser507fs, XP_016857818.1:p.Ser499fs, NP_001306881.1:p.Ser465fs, XP_047286325.1:p.Ser503fs, XP_047286340.1:p.Ser503fs, XP_047286338.1:p.Ser494fs, XP_047286335.1:p.Ser495fs, XP_047286336.1:p.Ser494fs

Select item 148868906711.

rs1488689067 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 1:109763104 (GRCh38)
1:110305726 (GRCh37)
Canonical SPDI:: NC_000001.11:109763103:A:T
Gene:: EPS8L3 (Varview), LOC124904258 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.109763104A>T, NC_000001.10:g.110305726A>T

Select item 148866633612.

rs1488666336 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:109753105 (GRCh38)
1:110295727 (GRCh37)
Canonical SPDI:: NC_000001.11:109753104:A:C
Gene:: EPS8L3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.109753105A>C, NC_000001.10:g.110295727A>C

Select item 148860409213.

rs1488604092 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:109761012 (GRCh38)
1:110303634 (GRCh37)
Canonical SPDI:: NC_000001.11:109761011:G:A
Gene:: EPS8L3 (Varview), LOC124904258 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.109761012G>A, NC_000001.10:g.110303634G>A

Select item 148815636114.

rs1488156361 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:109750881 (GRCh38)
1:110293503 (GRCh37)
Canonical SPDI:: NC_000001.11:109750880:G:A
Gene:: EPS8L3 (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.109750881G>A, NC_000001.10:g.110293503G>A, NG_082147.1:g.569G>A

Select item 148804065515.

rs1488040655 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:109762332 (GRCh38)
1:110304954 (GRCh37)
Canonical SPDI:: NC_000001.11:109762331:C:T
Gene:: EPS8L3 (Varview), LOC124904258 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.109762332C>T, NC_000001.10:g.110304954C>T

Select item 148800654216.

rs1488006542 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:109751869 (GRCh38)
1:110294491 (GRCh37)
Canonical SPDI:: NC_000001.11:109751868:C:A
Gene:: EPS8L3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.109751869C>A, NC_000001.10:g.110294491C>A

Select item 148790669917.

rs1487906699 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 1:109750513 (GRCh38)
1:110293135 (GRCh37)
Canonical SPDI:: NC_000001.11:109750512:G:A,NC_000001.11:109750512:G:C
Gene:: EPS8L3 (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
C=0.001092/2 (Korea1K)
HGVS:: NC_000001.11:g.109750513G>A, NC_000001.11:g.109750513G>C, NC_000001.10:g.110293135G>A, NC_000001.10:g.110293135G>C, NG_082147.1:g.201G>A, NG_082147.1:g.201G>C

Select item 148762431418.

rs1487624314 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:109760564 (GRCh38)
1:110303186 (GRCh37)
Canonical SPDI:: NC_000001.11:109760563:A:G
Gene:: EPS8L3 (Varview), LOC124904258 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0.00034/4 (ALFA)
HGVS:: NC_000001.11:g.109760564A>G, NC_000001.10:g.110303186A>G

Select item 148756943019.

rs1487569430 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 1:109753187 (GRCh38)
1:110295809 (GRCh37)
Canonical SPDI:: NC_000001.11:109753186:G:
Gene:: EPS8L3 (Varview)
Functional Consequence:: frameshift_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.109753187del, NC_000001.10:g.110295809del, NM_133181.4:c.1130del, NM_133181.3:c.1130del, XM_011542135.4:c.1055del, XM_011542135.3:c.1055del, XM_011542135.2:c.1055del, XM_011542135.1:c.1055del, XM_011542134.4:c.1055del, XM_011542134.3:c.1055del, XM_011542134.2:c.1055del, XM_011542134.1:c.1055del, NM_024526.4:c.1130del, NM_024526.3:c.1130del, XM_011542132.3:c.1157del, XM_011542132.2:c.1157del, XM_011542132.1:c.1157del, XM_011542133.3:c.1154del, XM_011542133.2:c.1154del, XM_011542133.1:c.1154del, NM_139053.3:c.1133del, NM_139053.2:c.1133del, XM_017002328.3:c.1157del, XM_017002328.2:c.1157del, XM_017002328.1:c.1157del, XM_017002329.3:c.1133del, XM_017002329.2:c.1133del, XM_017002329.1:c.1133del, XM_017002327.3:c.1157del, XM_017002327.2:c.1157del, XM_017002327.1:c.1157del, XR_001737407.3:n.1283del, XR_001737407.2:n.1306del, XR_001737407.1:n.1280del, NM_001319952.2:c.1031del, NM_001319952.1:c.1031del, XM_047430369.1:c.1055del, XM_047430384.1:c.1055del, XM_047430382.1:c.1028del, XM_047430379.1:c.1031del, XM_047430380.1:c.1028del, XR_007063682.1:n.1283del, NP_573444.2:p.Thr377fs, XP_011540437.1:p.Thr352fs, XP_011540436.1:p.Thr352fs, NP_078802.2:p.Thr377fs, XP_011540434.1:p.Thr386fs, XP_011540435.1:p.Thr385fs, NP_620641.1:p.Thr378fs, XP_016857817.1:p.Thr386fs, XP_016857818.1:p.Thr378fs, XP_016857816.1:p.Thr386fs, NP_001306881.1:p.Thr344fs, XP_047286325.1:p.Thr352fs, XP_047286340.1:p.Thr352fs, XP_047286338.1:p.Thr343fs, XP_047286335.1:p.Thr344fs, XP_047286336.1:p.Thr343fs

Select item 148715069820.

rs1487150698 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:109764310 (GRCh38)
1:110306932 (GRCh37)
Canonical SPDI:: NC_000001.11:109764309:G:T
Gene:: EPS8L3 (Varview), LOC124904258 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000224/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000223/1 (Estonian)
HGVS:: NC_000001.11:g.109764310G>T, NC_000001.10:g.110306932G>T

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