SNP Links for Gene (Select 254013) - SNP

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Select item 14914540291.

rs1491454029 has merged into rs10567575 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 12:31660003 (GRCh38)
12:31812937 (GRCh37)
Canonical SPDI:: NC_000012.12:31659986:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000012.12:31659986:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000012.12:31659986:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000012.12:31659986:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000012.12:31659986:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000012.12:31659986:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000012.12:31659986:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:31659986:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:31659986:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:31659986:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:31659986:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:31659986:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:31659986:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: ETFBKMT (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000012.12:g.31660003_31660009del, NC_000012.12:g.31660004_31660009del, NC_000012.12:g.31660005_31660009del, NC_000012.12:g.31660006_31660009del, NC_000012.12:g.31660007_31660009del, NC_000012.12:g.31660008_31660009del, NC_000012.12:g.31660009del, NC_000012.12:g.31660009dup, NC_000012.12:g.31660007_31660009dup, NC_000012.12:g.31660005_31660009dup, NC_000012.12:g.31660004_31660009dup, NC_000012.12:g.31660003_31660009dup, NC_000012.12:g.31660002_31660009dup, NC_000012.11:g.31812937_31812943del, NC_000012.11:g.31812938_31812943del, NC_000012.11:g.31812939_31812943del, NC_000012.11:g.31812940_31812943del, NC_000012.11:g.31812941_31812943del, NC_000012.11:g.31812942_31812943del, NC_000012.11:g.31812943del, NC_000012.11:g.31812943dup, NC_000012.11:g.31812941_31812943dup, NC_000012.11:g.31812939_31812943dup, NC_000012.11:g.31812938_31812943dup, NC_000012.11:g.31812937_31812943dup, NC_000012.11:g.31812936_31812943dup, XM_024448925.2:c.-1094_-1088del, XM_024448925.2:c.-1093_-1088del, XM_024448925.2:c.-1092_-1088del, XM_024448925.2:c.-1091_-1088del, XM_024448925.2:c.-1090_-1088del, XM_024448925.2:c.-1089_-1088del, XM_024448925.2:c.-1088del, XM_024448925.2:c.-1088dup, XM_024448925.2:c.-1090_-1088dup, XM_024448925.2:c.-1092_-1088dup, XM_024448925.2:c.-1093_-1088dup, XM_024448925.2:c.-1094_-1088dup, XM_024448925.2:c.-1095_-1088dup, XM_024448924.2:c.-180_-174del, XM_024448924.2:c.-179_-174del, XM_024448924.2:c.-178_-174del, XM_024448924.2:c.-177_-174del, XM_024448924.2:c.-176_-174del, XM_024448924.2:c.-175_-174del, XM_024448924.2:c.-174del, XM_024448924.2:c.-174dup, XM_024448924.2:c.-176_-174dup, XM_024448924.2:c.-178_-174dup, XM_024448924.2:c.-179_-174dup, XM_024448924.2:c.-180_-174dup, XM_024448924.2:c.-181_-174dup

Select item 14914388792.

rs1491438879 [Homo sapiens]

Variant type:: SNV:
Alleles:: ->GT
Chromosome:: no mapping
Canonical SPDI:

Select item 14914162973.

rs1491416297 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 12:31666999 (GRCh38)
12:31819933 (GRCh37)
Canonical SPDI:: NC_000012.12:31666997:TCT:T
Gene:: ETFBKMT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
-=0.00007/1 (TOMMO)
HGVS:: NC_000012.12:g.31666999_31667000del, NC_000012.11:g.31819933_31819934del

Select item 14913144734.

rs1491314473 has merged into rs61406039 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTT>-,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTTTT [Show Flanks]
Chromosome:: 12:31649777 (GRCh38)
12:31802711 (GRCh37)
Canonical SPDI:: NC_000012.12:31649769:TTTTTTTTTTTT:TTTTTTT,NC_000012.12:31649769:TTTTTTTTTTTT:TTTTTTTTTT,NC_000012.12:31649769:TTTTTTTTTTTT:TTTTTTTTTTT,NC_000012.12:31649769:TTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000012.12:31649769:TTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000012.12:31649769:TTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000012.12:31649769:TTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000012.12:31649769:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT
Gene:: ETFBKMT (Varview), LOC124902913 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
-=0.3634/1820 (1000Genomes)
HGVS:: NC_000012.12:g.31649777_31649781del, NC_000012.12:g.31649780_31649781del, NC_000012.12:g.31649781del, NC_000012.12:g.31649781dup, NC_000012.12:g.31649780_31649781dup, NC_000012.12:g.31649779_31649781dup, NC_000012.12:g.31649778_31649781dup, NC_000012.12:g.31649774_31649781dup, NC_000012.11:g.31802711_31802715del, NC_000012.11:g.31802714_31802715del, NC_000012.11:g.31802715del, NC_000012.11:g.31802715dup, NC_000012.11:g.31802714_31802715dup, NC_000012.11:g.31802713_31802715dup, NC_000012.11:g.31802712_31802715dup, NC_000012.11:g.31802708_31802715dup

Select item 14911449055.

rs1491144905 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 12:31660161 (GRCh38)
12:31813095 (GRCh37)
Canonical SPDI:: NC_000012.12:31660160:CA:
Gene:: ETFBKMT (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00017/2 (ALFA)
-=0.00111/31 (TOMMO)
HGVS:: NC_000012.12:g.31660161_31660162del, NC_000012.11:g.31813095_31813096del, XM_024448925.2:c.-936_-935del

Select item 14911196476.

rs1491119647 has merged into rs200203445 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTTTTT [Show Flanks]
Chromosome:: 12:31667640 (GRCh38)
12:31820574 (GRCh37)
Canonical SPDI:: NC_000012.12:31667630:TTTTTTTTTTTTT:TTTTTTTTT,NC_000012.12:31667630:TTTTTTTTTTTTT:TTTTTTTTTT,NC_000012.12:31667630:TTTTTTTTTTTTT:TTTTTTTTTTT,NC_000012.12:31667630:TTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000012.12:31667630:TTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000012.12:31667630:TTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000012.12:31667630:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT
Gene:: ETFBKMT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
-=0.000026/7 (TOPMED)
T=0.112416/67 (NorthernSweden)
T=0.125/5 (GENOME_DK)
HGVS:: NC_000012.12:g.31667640_31667643del, NC_000012.12:g.31667641_31667643del, NC_000012.12:g.31667642_31667643del, NC_000012.12:g.31667643del, NC_000012.12:g.31667643dup, NC_000012.12:g.31667642_31667643dup, NC_000012.12:g.31667638_31667643dup, NC_000012.11:g.31820574_31820577del, NC_000012.11:g.31820575_31820577del, NC_000012.11:g.31820576_31820577del, NC_000012.11:g.31820577del, NC_000012.11:g.31820577dup, NC_000012.11:g.31820576_31820577dup, NC_000012.11:g.31820572_31820577dup

Select item 14911189817.

rs1491118981 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 12:31666998 (GRCh38)
12:31819933 (GRCh37)
Canonical SPDI:: NC_000012.12:31666998:C:CC
Gene:: ETFBKMT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CC=0./0 (ALFA)
HGVS:: NC_000012.12:g.31666999dup, NC_000012.11:g.31819933dup

Select item 14911119858.

rs1491111985 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 12:31659986 (GRCh38)
12:31812920 (GRCh37)
Canonical SPDI:: NC_000012.12:31659985:TA:
Gene:: ETFBKMT (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000012.12:g.31659986_31659987del, NC_000012.11:g.31812920_31812921del, XM_024448925.2:c.-1111_-1110del, XM_024448924.2:c.-197_-196del

Select item 14910636069.

rs1491063606 [Homo sapiens]

Variant type:: SNV:
Alleles:: CT>-
Chromosome:: no mapping
Canonical SPDI:

Select item 149104495810.

rs1491044958 has merged into rs11440794 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 12:31645378 (GRCh38)
12:31798312 (GRCh37)
Canonical SPDI:: NC_000012.12:31645366:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000012.12:31645366:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000012.12:31645366:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000012.12:31645366:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000012.12:31645366:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000012.12:31645366:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000012.12:31645366:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000012.12:31645366:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000012.12:31645366:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000012.12:31645366:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000012.12:31645366:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000012.12:31645366:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:31645366:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:31645366:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:31645366:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:31645366:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:31645366:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:31645366:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:31645366:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:31645366:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:31645366:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:31645366:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:31645366:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:31645366:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:31645366:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:31645366:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: ETFBKMT (Varview), LOC124902913 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000012.12:g.31645378_31645390del, NC_000012.12:g.31645379_31645390del, NC_000012.12:g.31645380_31645390del, NC_000012.12:g.31645381_31645390del, NC_000012.12:g.31645382_31645390del, NC_000012.12:g.31645383_31645390del, NC_000012.12:g.31645384_31645390del, NC_000012.12:g.31645385_31645390del, NC_000012.12:g.31645386_31645390del, NC_000012.12:g.31645387_31645390del, NC_000012.12:g.31645388_31645390del, NC_000012.12:g.31645389_31645390del, NC_000012.12:g.31645390del, NC_000012.12:g.31645390dup, NC_000012.12:g.31645389_31645390dup, NC_000012.12:g.31645388_31645390dup, NC_000012.12:g.31645387_31645390dup, NC_000012.12:g.31645386_31645390dup, NC_000012.12:g.31645385_31645390dup, NC_000012.12:g.31645384_31645390dup, NC_000012.12:g.31645381_31645390dup, NC_000012.12:g.31645380_31645390dup, NC_000012.12:g.31645379_31645390dup, NC_000012.12:g.31645378_31645390dup, NC_000012.12:g.31645377_31645390dup, NC_000012.12:g.31645370_31645390dup, NC_000012.11:g.31798312_31798324del, NC_000012.11:g.31798313_31798324del, NC_000012.11:g.31798314_31798324del, NC_000012.11:g.31798315_31798324del, NC_000012.11:g.31798316_31798324del, NC_000012.11:g.31798317_31798324del, NC_000012.11:g.31798318_31798324del, NC_000012.11:g.31798319_31798324del, NC_000012.11:g.31798320_31798324del, NC_000012.11:g.31798321_31798324del, NC_000012.11:g.31798322_31798324del, NC_000012.11:g.31798323_31798324del, NC_000012.11:g.31798324del, NC_000012.11:g.31798324dup, NC_000012.11:g.31798323_31798324dup, NC_000012.11:g.31798322_31798324dup, NC_000012.11:g.31798321_31798324dup, NC_000012.11:g.31798320_31798324dup, NC_000012.11:g.31798319_31798324dup, NC_000012.11:g.31798318_31798324dup, NC_000012.11:g.31798315_31798324dup, NC_000012.11:g.31798314_31798324dup, NC_000012.11:g.31798313_31798324dup, NC_000012.11:g.31798312_31798324dup, NC_000012.11:g.31798311_31798324dup, NC_000012.11:g.31798304_31798324dup

Select item 149100509811.

rs1491005098 [Homo sapiens]

Variant type:: SNV:
Alleles:: GA>-
Chromosome:: no mapping
Canonical SPDI:

Select item 149097781612.

rs1490977816 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 12:31665093 (GRCh38)
12:31818027 (GRCh37)
Canonical SPDI:: NC_000012.12:31665092:C:A
Gene:: ETFBKMT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000019/5 (TOPMED)
A=0.000029/4 (GnomAD)
HGVS:: NC_000012.12:g.31665093C>A, NC_000012.11:g.31818027C>A

Select item 149093275713.

rs1490932757 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:31667500 (GRCh38)
12:31820434 (GRCh37)
Canonical SPDI:: NC_000012.12:31667499:C:T
Gene:: ETFBKMT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.31667500C>T, NC_000012.11:g.31820434C>T

Select item 149090589314.

rs1490905893 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 12:31667283 (GRCh38)
12:31820217 (GRCh37)
Canonical SPDI:: NC_000012.12:31667282:C:G
Gene:: ETFBKMT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000012.12:g.31667283C>G, NC_000012.11:g.31820217C>G

Select item 149062981715.

rs1490629817 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTAT>- [Show Flanks]
Chromosome:: 12:31660347 (GRCh38)
12:31813281 (GRCh37)
Canonical SPDI:: NC_000012.12:31660344:ATTTAT:AT
Gene:: ETFBKMT (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AT=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000011/3 (TOPMED)
HGVS:: NC_000012.12:g.31660347_31660350del, NC_000012.11:g.31813281_31813284del, XM_024448925.2:c.-750_-747del, XM_024448925.1:c.-750_-747del

Select item 149019674016.

rs1490196740 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:31657614 (GRCh38)
12:31810548 (GRCh37)
Canonical SPDI:: NC_000012.12:31657613:A:G
Gene:: ETFBKMT (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000012.12:g.31657614A>G, NC_000012.11:g.31810548A>G

Select item 149004927417.

rs1490049274 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:31666121 (GRCh38)
12:31819055 (GRCh37)
Canonical SPDI:: NC_000012.12:31666120:A:G
Gene:: ETFBKMT (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.31666121A>G, NC_000012.11:g.31819055A>G, NM_173802.4:c.349A>G, NM_173802.3:c.349A>G, XM_024448925.2:c.349A>G, XM_024448925.1:c.349A>G, XM_024448924.2:c.349A>G, XM_024448924.1:c.349A>G, XM_024448923.2:c.349A>G, XM_024448923.1:c.349A>G, NM_001135863.2:c.349A>G, NM_001135863.1:c.349A>G, NM_001135864.2:c.349A>G, NM_001135864.1:c.349A>G, NP_776163.1:p.Lys117Glu, XP_024304693.1:p.Lys117Glu, XP_024304692.1:p.Lys117Glu, XP_024304691.1:p.Lys117Glu, NP_001129335.1:p.Lys117Glu, NP_001129336.1:p.Lys117Glu

Select item 148997351318.

rs1489973513 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:31667859 (GRCh38)
12:31820793 (GRCh37)
Canonical SPDI:: NC_000012.12:31667858:G:A
Gene:: ETFBKMT (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.31667859G>A, NC_000012.11:g.31820793G>A, NM_173802.4:c.658G>A, NM_173802.3:c.658G>A, XM_024448925.2:c.658G>A, XM_024448925.1:c.658G>A, XM_024448924.2:c.658G>A, XM_024448924.1:c.658G>A, XM_024448923.2:c.658G>A, XM_024448923.1:c.658G>A, NM_001135863.2:c.658G>A, NM_001135863.1:c.658G>A, NM_001135864.2:c.658G>A, NM_001135864.1:c.658G>A, NP_776163.1:p.Gly220Arg, XP_024304693.1:p.Gly220Arg, XP_024304692.1:p.Gly220Arg, XP_024304691.1:p.Gly220Arg, NP_001129335.1:p.Gly220Arg, NP_001129336.1:p.Gly220Arg

Select item 148991986319.

rs1489919863 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:31649558 (GRCh38)
12:31802492 (GRCh37)
Canonical SPDI:: NC_000012.12:31649557:C:T
Gene:: ETFBKMT (Varview), LOC124902913 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: T=0.00007/1 (TOMMO)
HGVS:: NC_000012.12:g.31649558C>T, NC_000012.11:g.31802492C>T

Select item 148988625320.

rs1489886253 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:31666721 (GRCh38)
12:31819655 (GRCh37)
Canonical SPDI:: NC_000012.12:31666720:G:A
Gene:: ETFBKMT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.31666721G>A, NC_000012.11:g.31819655G>A

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