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Select item 14915555231.

rs1491555523 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 6:73516051 (GRCh38)
6:74225774 (GRCh37)
Canonical SPDI:: NC_000006.12:73516050:TA:
Gene:: EEF1A1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000071/1 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000011/3 (TOPMED)
HGVS:: NC_000006.12:g.73516051_73516052del, NC_000006.11:g.74225774_74225775del, NM_001402.6:c.*1758_*1759del, NM_001402.5:c.*1758_*1759del

Select item 14913845882.

rs1491384588 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GAGA [Show Flanks]
Chromosome:: 6:73516892 (GRCh38)
6:74226616 (GRCh37)
Canonical SPDI:: NC_000006.12:73516892:A:AGAGA
Gene:: EEF1A1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAGA=0./0 (ALFA)
AGAG=0.000004/1 (TOPMED)
AGAG=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.73516893_73516894insGAGA, NC_000006.11:g.74226616_74226617insGAGA, NM_001402.6:c.*917_*918insCTCT, NM_001402.5:c.*917_*918insCTCT

Select item 14913812603.

rs1491381260 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 6:73517259 (GRCh38)
6:74226982 (GRCh37)
Canonical SPDI:: NC_000006.12:73517258:CA:
Gene:: EEF1A1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00121/17 (ALFA)
-=0.001479/206 (GnomAD)
-=0.001564/414 (TOPMED)
-=0.002498/13 (1000Genomes)
HGVS:: NC_000006.12:g.73517259_73517260del, NC_000006.11:g.74226982_74226983del, NM_001402.6:c.*550_*551del, NM_001402.5:c.*550_*551del

Select item 14912141324.

rs1491214132 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>- [Show Flanks]
Chromosome:: 6:73516894 (GRCh38)
6:74226617 (GRCh37)
Canonical SPDI:: NC_000006.12:73516891:AAAA:AA
Gene:: EEF1A1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: AAAA=0./0 (ALFA)
HGVS:: NC_000006.12:g.73516894_73516895del, NC_000006.11:g.74226617_74226618del, NM_001402.6:c.*917_*918del, NM_001402.5:c.*917_*918del

Select item 14910920855.

rs1491092085 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 6:73516051 (GRCh38)
6:74225775 (GRCh37)
Canonical SPDI:: NC_000006.12:73516051:A:AA
Gene:: EEF1A1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
A=0.000015/4 (TOPMED)
A=0.000036/5 (GnomAD)
HGVS:: NC_000006.12:g.73516052dup, NC_000006.11:g.74225775dup, NM_001402.6:c.*1758dup, NM_001402.5:c.*1758dup

Select item 14907543466.

rs1490754346 [Homo sapiens]

Variant type:: DELINS
Alleles:: TGACTTCAAAATGGAC>- [Show Flanks]
Chromosome:: 6:73517050 (GRCh38)
6:74226773 (GRCh37)
Canonical SPDI:: NC_000006.12:73517047:ACTGACTTCAAAATGGAC:AC
Gene:: EEF1A1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.73517050_73517065del, NC_000006.11:g.74226773_74226788del, NM_001402.6:c.*747_*762del, NM_001402.5:c.*747_*762del

Select item 14905445907.

rs1490544590 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:73522445 (GRCh38)
6:74232168 (GRCh37)
Canonical SPDI:: NC_000006.12:73522444:T:C
Gene:: EEF1A1 (Varview), LOC124901342 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.73522445T>C, NC_000006.11:g.74232168T>C

Select item 14905081968.

rs1490508196 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 6:73520060 (GRCh38)
6:74229783 (GRCh37)
Canonical SPDI:: NC_000006.12:73520059:A:G,NC_000006.12:73520059:A:T
Gene:: EEF1A1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: G=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.73520060A>G, NC_000006.12:g.73520060A>T, NC_000006.11:g.74229783A>G, NC_000006.11:g.74229783A>T

Select item 14899882179.

rs1489988217 has merged into rs530302960 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,A,AA,AAA,AAAAA [Show Flanks]
Chromosome:: 6:73517945 (GRCh38)
6:74227668 (GRCh37)
Canonical SPDI:: NC_000006.12:73517939:AAAAAAAAA:AAAAA,NC_000006.12:73517939:AAAAAAAAA:AAAAAA,NC_000006.12:73517939:AAAAAAAAA:AAAAAAA,NC_000006.12:73517939:AAAAAAAAA:AAAAAAAA,NC_000006.12:73517939:AAAAAAAAA:AAAAAAAAAA
Gene:: EEF1A1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAA=0./0 (ALFA)
-=0.00011/2 (TOMMO)
A=0.00064/8 (GoESP)
A=0.001/5 (1000Genomes)
A=0.00109/2 (Korea1K)
HGVS:: NC_000006.12:g.73517945_73517948del, NC_000006.12:g.73517946_73517948del, NC_000006.12:g.73517947_73517948del, NC_000006.12:g.73517948del, NC_000006.12:g.73517948dup, NC_000006.11:g.74227668_74227671del, NC_000006.11:g.74227669_74227671del, NC_000006.11:g.74227670_74227671del, NC_000006.11:g.74227671del, NC_000006.11:g.74227671dup

Select item 148993631310.

rs1489936313 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACTCAGTTTTTGG>- [Show Flanks]
Chromosome:: 6:73517256 (GRCh38)
6:74226979 (GRCh37)
Canonical SPDI:: NC_000006.12:73517253:GGACTCAGTTTTTGG:GG
Gene:: EEF1A1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: GG=0.000071/1 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.73517256_73517268del, NC_000006.11:g.74226979_74226991del, NM_001402.6:c.*544_*556del, NM_001402.5:c.*544_*556del

Select item 148988531011.

rs1489885310 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 6:73518769 (GRCh38)
6:74228492 (GRCh37)
Canonical SPDI:: NC_000006.12:73518768:C:G
Gene:: EEF1A1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.73518769C>G, NC_000006.11:g.74228492C>G, NM_001402.6:c.701G>C, NM_001402.5:c.701G>C, NP_001393.1:p.Cys234Ser

Select item 148949197712.

rs1489491977 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:73515996 (GRCh38)
6:74225719 (GRCh37)
Canonical SPDI:: NC_000006.12:73515995:T:C
Gene:: EEF1A1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.73515996T>C, NC_000006.11:g.74225719T>C, NM_001402.6:c.*1814A>G, NM_001402.5:c.*1814A>G

Select item 148944009913.

rs1489440099 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 6:73516593 (GRCh38)
6:74226316 (GRCh37)
Canonical SPDI:: NC_000006.12:73516592:A:C,NC_000006.12:73516592:A:G
Gene:: EEF1A1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
C=0.000035/1 (TOMMO)
HGVS:: NC_000006.12:g.73516593A>C, NC_000006.12:g.73516593A>G, NC_000006.11:g.74226316A>C, NC_000006.11:g.74226316A>G, NM_001402.6:c.*1217T>G, NM_001402.6:c.*1217T>C, NM_001402.5:c.*1217T>G, NM_001402.5:c.*1217T>C

Select item 148941289814.

rs1489412898 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:73516194 (GRCh38)
6:74225917 (GRCh37)
Canonical SPDI:: NC_000006.12:73516193:C:T
Gene:: EEF1A1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00011/2 (TOMMO)
HGVS:: NC_000006.12:g.73516194C>T, NC_000006.11:g.74225917C>T, NM_001402.6:c.*1616G>A, NM_001402.5:c.*1616G>A

Select item 148933952915.

rs1489339529 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 6:73521551 (GRCh38)
6:74231274 (GRCh37)
Canonical SPDI:: NC_000006.12:73521550:C:A
Gene:: EEF1A1 (Varview), LOC124901342 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.73521551C>A, NC_000006.11:g.74231274C>A

Select item 148880393016.

rs1488803930 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTA>- [Show Flanks]
Chromosome:: 6:73517719 (GRCh38)
6:74227442 (GRCh37)
Canonical SPDI:: NC_000006.12:73517713:TACTACTA:TACTA
Gene:: EEF1A1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TACTA=0./0 (ALFA)
-=0.000008/2 (TOPMED)
-=0.000036/5 (GnomAD)
HGVS:: NC_000006.12:g.73517716CTA[1], NC_000006.11:g.74227439CTA[1], NM_001402.6:c.*91GTA[1], NM_001402.5:c.*91GTA[1]

Select item 148857456617.

rs1488574566 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:73518327 (GRCh38)
6:74228050 (GRCh37)
Canonical SPDI:: NC_000006.12:73518326:T:C
Gene:: EEF1A1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.73518327T>C, NC_000006.11:g.74228050T>C

Select item 148851224218.

rs1488512242 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:73516249 (GRCh38)
6:74225972 (GRCh37)
Canonical SPDI:: NC_000006.12:73516248:T:C
Gene:: EEF1A1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000006.12:g.73516249T>C, NC_000006.11:g.74225972T>C, NM_001402.6:c.*1561A>G, NM_001402.5:c.*1561A>G

Select item 148814233019.

rs1488142330 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:73519806 (GRCh38)
6:74229529 (GRCh37)
Canonical SPDI:: NC_000006.12:73519805:T:C
Gene:: EEF1A1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.73519806T>C, NC_000006.11:g.74229529T>C

Select item 148807097520.

rs1488070975 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 6:73521460 (GRCh38)
6:74231183 (GRCh37)
Canonical SPDI:: NC_000006.12:73521459:A:C,NC_000006.12:73521459:A:G
Gene:: EEF1A1 (Varview), LOC124901342 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0./0 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.73521460A>C, NC_000006.12:g.73521460A>G, NC_000006.11:g.74231183A>C, NC_000006.11:g.74231183A>G

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