SNP Links for Gene (Select 196483) - SNP

Links from Gene

Items: 1 to 20 of 5345

<< First< Prev

Page of 268

Next >Last >>

Select item 14915771981.

rs1491577198 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 16:5092301 (GRCh38)
16:5142303 (GRCh37)
Canonical SPDI:: NC_000016.10:5092301:C:CC
Gene:: EEF2KMT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CC=0.000447/2 (ALFA)
C=0.000014/2 (GnomAD)
HGVS:: NC_000016.10:g.5092302dup, NC_000016.9:g.5142303dup

Select item 14914123892.

rs1491412389 has merged into rs34399333 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAA>-,AA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 16:5087813 (GRCh38)
16:5137814 (GRCh37)
Canonical SPDI:: NC_000016.10:5087800:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000016.10:5087800:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000016.10:5087800:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000016.10:5087800:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000016.10:5087800:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000016.10:5087800:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000016.10:5087800:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:5087800:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:5087800:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:5087800:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:5087800:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: ALG1 (Varview), EEF2KMT (Varview)
Functional Consequence:: downstream_transcript_variant,intron_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
-=0.0467/7 (NorthernSweden)
HGVS:: NC_000016.10:g.5087813_5087821del, NC_000016.10:g.5087815_5087821del, NC_000016.10:g.5087818_5087821del, NC_000016.10:g.5087819_5087821del, NC_000016.10:g.5087820_5087821del, NC_000016.10:g.5087821del, NC_000016.10:g.5087821dup, NC_000016.10:g.5087820_5087821dup, NC_000016.10:g.5087819_5087821dup, NC_000016.10:g.5087818_5087821dup, NC_000016.10:g.5087815_5087821dup, NC_000016.9:g.5137814_5137822del, NC_000016.9:g.5137816_5137822del, NC_000016.9:g.5137819_5137822del, NC_000016.9:g.5137820_5137822del, NC_000016.9:g.5137821_5137822del, NC_000016.9:g.5137822del, NC_000016.9:g.5137822dup, NC_000016.9:g.5137821_5137822dup, NC_000016.9:g.5137820_5137822dup, NC_000016.9:g.5137819_5137822dup, NC_000016.9:g.5137816_5137822dup, NG_009202.1:g.21005_21013del, NG_009202.1:g.21007_21013del, NG_009202.1:g.21010_21013del, NG_009202.1:g.21011_21013del, NG_009202.1:g.21012_21013del, NG_009202.1:g.21013del, NG_009202.1:g.21013dup, NG_009202.1:g.21012_21013dup, NG_009202.1:g.21011_21013dup, NG_009202.1:g.21010_21013dup, NG_009202.1:g.21007_21013dup

Select item 14912389553.

rs1491238955 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 16:5087800 (GRCh38)
16:5137801 (GRCh37)
Canonical SPDI:: NC_000016.10:5087799:CA:
Gene:: ALG1 (Varview), EEF2KMT (Varview)
Functional Consequence:: 500B_downstream_variant,intron_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00025/3 (ALFA)
-=0.00175/49 (TOMMO)
HGVS:: NC_000016.10:g.5087800_5087801del, NC_000016.9:g.5137801_5137802del, NG_009202.1:g.20992_20993del

Select item 14908687224.

rs1490868722 has merged into rs111681883 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA [Show Flanks]
Chromosome:: 16:5092158 (GRCh38)
16:5142159 (GRCh37)
Canonical SPDI:: NC_000016.10:5092148:AAAAAAAAAAA:AAAAAAAAA,NC_000016.10:5092148:AAAAAAAAAAA:AAAAAAAAAA,NC_000016.10:5092148:AAAAAAAAAAA:AAAAAAAAAAAA
Gene:: EEF2KMT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
-=0.126753/470 (TWINSUK)
-=0.128179/494 (ALSPAC)
-=0.15344/40614 (TOPMED)
-=0.155/93 (NorthernSweden)
-=0.2/8 (GENOME_DK)
-=0.200879/1006 (1000Genomes)
-=0.262009/480 (Korea1K)
-=0.275179/4612 (TOMMO)
HGVS:: NC_000016.10:g.5092158_5092159del, NC_000016.10:g.5092159del, NC_000016.10:g.5092159dup, NC_000016.9:g.5142159_5142160del, NC_000016.9:g.5142160del, NC_000016.9:g.5142160dup

Select item 14907109915.

rs1490710991 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:5086985 (GRCh38)
16:5136986 (GRCh37)
Canonical SPDI:: NC_000016.10:5086984:T:C
Gene:: ALG1 (Varview), EEF2KMT (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.5086985T>C, NC_000016.9:g.5136986T>C, NG_009202.1:g.20177T>C, NM_019109.5:c.*2104T>C, NM_019109.4:c.*2104T>C, NM_001330504.2:c.*2104T>C, NM_001330504.1:c.*2104T>C, XM_017023457.3:c.*2104T>C

Select item 14906164376.

rs1490616437 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TCCGCTCGCCCCGCCGCCCAC [Show Flanks]
Chromosome:: 16:5097621 (GRCh38)
16:5147623 (GRCh37)
Canonical SPDI:: NC_000016.10:5097621:CTCCGCTCGCCCCGCCGCCCAC:CTCCGCTCGCCCCGCCGCCCACTCCGCTCGCCCCGCCGCCCAC
Gene:: EEF2KMT (Varview)
Functional Consequence:: intron_variant,splice_donor_variant
Validated:: by frequency,by alfa
MAF:: CTCCGCTCGCCCCGCCGCCCACTCCGCTCGCCCCGCCGCCCAC=0.000071/1 (ALFA)
CTCCGCTCGCCCCGCCGCCCA=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.5097623_5097643dup, NC_000016.9:g.5147624_5147644dup

Select item 14904046077.

rs1490404607 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 16:5088765 (GRCh38)
16:5138766 (GRCh37)
Canonical SPDI:: NC_000016.10:5088764:G:A,NC_000016.10:5088764:G:T
Gene:: EEF2KMT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000019/5 (TOPMED)
HGVS:: NC_000016.10:g.5088765G>A, NC_000016.10:g.5088765G>T, NC_000016.9:g.5138766G>A, NC_000016.9:g.5138766G>T, NG_009202.1:g.21957G>A, NG_009202.1:g.21957G>T

Select item 14903626708.

rs1490362670 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 16:5092410 (GRCh38)
16:5142411 (GRCh37)
Canonical SPDI:: NC_000016.10:5092409:G:A,NC_000016.10:5092409:G:T
Gene:: EEF2KMT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.5092410G>A, NC_000016.10:g.5092410G>T, NC_000016.9:g.5142411G>A, NC_000016.9:g.5142411G>T

Select item 14901750079.

rs1490175007 has merged into rs764376534 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTT [Show Flanks]
Chromosome:: 16:5087934 (GRCh38)
16:5137935 (GRCh37)
Canonical SPDI:: NC_000016.10:5087923:TTTTTTTTTTTTT:TTTTTTTTTT,NC_000016.10:5087923:TTTTTTTTTTTTT:TTTTTTTTTTT,NC_000016.10:5087923:TTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000016.10:5087923:TTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000016.10:5087923:TTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000016.10:5087923:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000016.10:5087923:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT
Gene:: EEF2KMT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
-=0.04064/23 (NorthernSweden)
HGVS:: NC_000016.10:g.5087934_5087936del, NC_000016.10:g.5087935_5087936del, NC_000016.10:g.5087936del, NC_000016.10:g.5087936dup, NC_000016.10:g.5087935_5087936dup, NC_000016.10:g.5087934_5087936dup, NC_000016.10:g.5087933_5087936dup, NC_000016.9:g.5137935_5137937del, NC_000016.9:g.5137936_5137937del, NC_000016.9:g.5137937del, NC_000016.9:g.5137937dup, NC_000016.9:g.5137936_5137937dup, NC_000016.9:g.5137935_5137937dup, NC_000016.9:g.5137934_5137937dup, NG_009202.1:g.21126_21128del, NG_009202.1:g.21127_21128del, NG_009202.1:g.21128del, NG_009202.1:g.21128dup, NG_009202.1:g.21127_21128dup, NG_009202.1:g.21126_21128dup, NG_009202.1:g.21125_21128dup

Select item 149012547310.

rs1490125473 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:5097819 (GRCh38)
16:5147820 (GRCh37)
Canonical SPDI:: NC_000016.10:5097818:G:A
Gene:: EEF2KMT (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000016.10:g.5097819G>A, NC_000016.9:g.5147820G>A, NM_201400.3:c.-80C>T, NM_201598.3:c.-80C>T, NM_001289029.1:c.-80C>T

Select item 149005566311.

rs1490055663 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:5091086 (GRCh38)
16:5141087 (GRCh37)
Canonical SPDI:: NC_000016.10:5091085:T:C
Gene:: EEF2KMT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.5091086T>C, NC_000016.9:g.5141087T>C

Select item 149000831912.

rs1490008319 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 16:5089167 (GRCh38)
16:5139168 (GRCh37)
Canonical SPDI:: NC_000016.10:5089166:C:A
Gene:: EEF2KMT (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000016.10:g.5089167C>A, NC_000016.9:g.5139168C>A, NG_009202.1:g.22359C>A, XM_005255158.5:c.532G>T, XM_005255158.4:c.532G>T, XM_005255158.3:c.532G>T, XM_005255158.2:c.532G>T, XM_005255158.1:c.532G>T, XM_005255157.5:c.751G>T, XM_005255157.4:c.751G>T, XM_005255157.3:c.751G>T, XM_005255157.2:c.751G>T, XM_005255157.1:c.751G>T, NM_201400.4:c.832G>T, NM_201400.3:c.832G>T, NM_201400.2:c.832G>T, NM_201598.4:c.730G>T, NM_201598.3:c.730G>T, NM_201598.2:c.730G>T, XM_011522404.3:c.532G>T, XM_011522404.2:c.532G>T, XM_011522404.1:c.532G>T, NM_001289029.2:c.649G>T, NM_001289029.1:c.649G>T, XP_005255215.1:p.Val178Phe, XP_005255214.1:p.Val251Phe, NP_958802.1:p.Val278Phe, NP_963892.1:p.Val244Phe, XP_011520706.1:p.Val178Phe, NP_001275958.1:p.Val217Phe

Select item 148987205613.

rs1489872056 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:5092718 (GRCh38)
16:5142719 (GRCh37)
Canonical SPDI:: NC_000016.10:5092717:T:C
Gene:: EEF2KMT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000029/4 (GnomAD)
C=0.000083/22 (TOPMED)
HGVS:: NC_000016.10:g.5092718T>C, NC_000016.9:g.5142719T>C

Select item 148967620314.

rs1489676203 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 16:5090984 (GRCh38)
16:5140985 (GRCh37)
Canonical SPDI:: NC_000016.10:5090983:G:A,NC_000016.10:5090983:G:C
Gene:: EEF2KMT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000016.10:g.5090984G>A, NC_000016.10:g.5090984G>C, NC_000016.9:g.5140985G>A, NC_000016.9:g.5140985G>C

Select item 148964450315.

rs1489644503 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 16:5090304 (GRCh38)
16:5140305 (GRCh37)
Canonical SPDI:: NC_000016.10:5090303:G:A,NC_000016.10:5090303:G:C
Gene:: EEF2KMT (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000016.10:g.5090304G>A, NC_000016.10:g.5090304G>C, NC_000016.9:g.5140305G>A, NC_000016.9:g.5140305G>C, XM_005255158.5:c.222C>T, XM_005255158.5:c.222C>G, XM_005255158.4:c.222C>T, XM_005255158.4:c.222C>G, XM_005255158.3:c.222C>T, XM_005255158.3:c.222C>G, XM_005255158.2:c.222C>T, XM_005255158.2:c.222C>G, XM_005255158.1:c.222C>T, XM_005255158.1:c.222C>G, XM_005255157.5:c.441C>T, XM_005255157.5:c.441C>G, XM_005255157.4:c.441C>T, XM_005255157.4:c.441C>G, XM_005255157.3:c.441C>T, XM_005255157.3:c.441C>G, XM_005255157.2:c.441C>T, XM_005255157.2:c.441C>G, XM_005255157.1:c.441C>T, XM_005255157.1:c.441C>G, NM_201400.4:c.522C>T, NM_201400.4:c.522C>G, NM_201400.3:c.522C>T, NM_201400.3:c.522C>G, NM_201400.2:c.522C>T, NM_201400.2:c.522C>G, NM_201598.4:c.420C>T, NM_201598.4:c.420C>G, NM_201598.3:c.420C>T, NM_201598.3:c.420C>G, NM_201598.2:c.420C>T, NM_201598.2:c.420C>G, XM_011522404.3:c.222C>T, XM_011522404.3:c.222C>G, XM_011522404.2:c.222C>T, XM_011522404.2:c.222C>G, XM_011522404.1:c.222C>T, XM_011522404.1:c.222C>G, NM_001289029.2:c.339C>T, NM_001289029.2:c.339C>G, NM_001289029.1:c.339C>T, NM_001289029.1:c.339C>G

Select item 148923080416.

rs1489230804 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 16:5093083 (GRCh38)
16:5143084 (GRCh37)
Canonical SPDI:: NC_000016.10:5093082:T:
Gene:: EEF2KMT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000008/2 (TOPMED)
-=0.000021/3 (GnomAD)
HGVS:: NC_000016.10:g.5093083del, NC_000016.9:g.5143084del

Select item 148902716717.

rs1489027167 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 16:5092401 (GRCh38)
16:5142402 (GRCh37)
Canonical SPDI:: NC_000016.10:5092400:C:G
Gene:: EEF2KMT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.5092401C>G, NC_000016.9:g.5142402C>G

Select item 148896670618.

rs1488966706 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:5092985 (GRCh38)
16:5142986 (GRCh37)
Canonical SPDI:: NC_000016.10:5092984:A:G
Gene:: EEF2KMT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.5092985A>G, NC_000016.9:g.5142986A>G

Select item 148875999019.

rs1488759990 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:5086173 (GRCh38)
16:5136174 (GRCh37)
Canonical SPDI:: NC_000016.10:5086172:A:G
Gene:: ALG1 (Varview), EEF2KMT (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.00003/8 (TOPMED)
G=0.00005/7 (GnomAD)
HGVS:: NC_000016.10:g.5086173A>G, NC_000016.9:g.5136174A>G, NG_009202.1:g.19365A>G, NM_019109.5:c.*1292A>G, NM_019109.4:c.*1292A>G, NM_001330504.2:c.*1292A>G, NM_001330504.1:c.*1292A>G, XM_017023457.3:c.*1292A>G

Select item 148867945320.

rs1488679453 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:5091649 (GRCh38)
16:5141650 (GRCh37)
Canonical SPDI:: NC_000016.10:5091648:A:G
Gene:: EEF2KMT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.5091649A>G, NC_000016.9:g.5141650A>G

<< First< Prev

Page of 268

Next >Last >>

dbSNP

Result Filters

Clinical Significance

Validation Status

Publication

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Gene

Items: 1 to 20 of 5345

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity