SNP Links for Gene (Select 79736) - SNP

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Select item 14913076821.

rs1491307682 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: 17:30903229 (GRCh38)
17:29230247 (GRCh37)
Canonical SPDI:: NC_000017.11:30903226:GTGT:GT
Gene:: TEFM (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGT=0./0 (ALFA)
-=0.00047/3 (1000Genomes)
HGVS:: NC_000017.11:g.30903227GT[1], NC_000017.10:g.29230245GT[1]

Select item 14912238432.

rs1491223843 has merged into rs1173542105 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAA>-,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 17:30903146 (GRCh38)
17:29230164 (GRCh37)
Canonical SPDI:: NC_000017.11:30903136:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000017.11:30903136:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000017.11:30903136:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000017.11:30903136:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000017.11:30903136:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000017.11:30903136:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000017.11:30903136:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000017.11:30903136:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000017.11:30903136:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000017.11:30903136:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:30903136:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:30903136:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:30903136:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:30903136:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:30903136:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: TEFM (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000017.11:g.30903146_30903158del, NC_000017.11:g.30903151_30903158del, NC_000017.11:g.30903152_30903158del, NC_000017.11:g.30903153_30903158del, NC_000017.11:g.30903154_30903158del, NC_000017.11:g.30903155_30903158del, NC_000017.11:g.30903156_30903158del, NC_000017.11:g.30903157_30903158del, NC_000017.11:g.30903158del, NC_000017.11:g.30903158dup, NC_000017.11:g.30903157_30903158dup, NC_000017.11:g.30903156_30903158dup, NC_000017.11:g.30903155_30903158dup, NC_000017.11:g.30903154_30903158dup, NC_000017.11:g.30903153_30903158dup, NC_000017.10:g.29230164_29230176del, NC_000017.10:g.29230169_29230176del, NC_000017.10:g.29230170_29230176del, NC_000017.10:g.29230171_29230176del, NC_000017.10:g.29230172_29230176del, NC_000017.10:g.29230173_29230176del, NC_000017.10:g.29230174_29230176del, NC_000017.10:g.29230175_29230176del, NC_000017.10:g.29230176del, NC_000017.10:g.29230176dup, NC_000017.10:g.29230175_29230176dup, NC_000017.10:g.29230174_29230176dup, NC_000017.10:g.29230173_29230176dup, NC_000017.10:g.29230172_29230176dup, NC_000017.10:g.29230171_29230176dup

Select item 14911915413.

rs1491191541 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 17:30903136 (GRCh38)
17:29230154 (GRCh37)
Canonical SPDI:: NC_000017.11:30903135:CA:
Gene:: TEFM (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00244/29 (ALFA)
HGVS:: NC_000017.11:g.30903136_30903137del, NC_000017.10:g.29230154_29230155del

Select item 14903171914.

rs1490317191 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 17:30907687 (GRCh38)
17:29234705 (GRCh37)
Canonical SPDI:: NC_000017.11:30907686:G:A,NC_000017.11:30907686:G:T
Gene:: TEFM (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
A=0.000035/1 (TOMMO)
A=0.000156/1 (1000Genomes)
G=0.5/1 (SGDP_PRJ)
HGVS:: NC_000017.11:g.30907687G>A, NC_000017.11:g.30907687G>T, NC_000017.10:g.29234705G>A, NC_000017.10:g.29234705G>T

Select item 14901033695.

rs1490103369 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:30900794 (GRCh38)
17:29227812 (GRCh37)
Canonical SPDI:: NC_000017.11:30900793:G:A
Gene:: TEFM (Varview)
Functional Consequence:: intron_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_000017.11:g.30900794G>A, NC_000017.10:g.29227812G>A

Select item 14895161196.

rs1489516119 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:30900385 (GRCh38)
17:29227403 (GRCh37)
Canonical SPDI:: NC_000017.11:30900384:T:C
Gene:: TEFM (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.30900385T>C, NC_000017.10:g.29227403T>C

Select item 14893898297.

rs1489389829 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:30903286 (GRCh38)
17:29230304 (GRCh37)
Canonical SPDI:: NC_000017.11:30903285:G:T
Gene:: TEFM (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.30903286G>T, NC_000017.10:g.29230304G>T

Select item 14888348188.

rs1488834818 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:30903629 (GRCh38)
17:29230647 (GRCh37)
Canonical SPDI:: NC_000017.11:30903628:T:C
Gene:: TEFM (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_000017.11:g.30903629T>C, NC_000017.10:g.29230647T>C

Select item 14883802269.

rs1488380226 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:30899059 (GRCh38)
17:29226077 (GRCh37)
Canonical SPDI:: NC_000017.11:30899058:A:G
Gene:: TEFM (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency
MAF:: G=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.30899059A>G, NC_000017.10:g.29226077A>G, NM_024683.4:c.*110T>C, NM_024683.3:c.*110T>C, XM_006722084.3:c.*110T>C, XM_006722084.2:c.*110T>C, XM_006722084.1:c.*110T>C

Select item 148835578610.

rs1488355786 has merged into rs35702969 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAA>-,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA [Show Flanks]
Chromosome:: 17:30905529 (GRCh38)
17:29232547 (GRCh37)
Canonical SPDI:: NC_000017.11:30905520:AAAAAAAAAAAAAAAA:AAAAAAAA,NC_000017.11:30905520:AAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000017.11:30905520:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000017.11:30905520:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000017.11:30905520:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000017.11:30905520:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000017.11:30905520:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000017.11:30905520:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000017.11:30905520:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000017.11:30905520:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000017.11:30905520:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA
Gene:: TEFM (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
-=0.06569/329 (1000Genomes)
AAA=0.09445/364 (ALSPAC)
AAA=0.09844/365 (TWINSUK)
HGVS:: NC_000017.11:g.30905529_30905536del, NC_000017.11:g.30905532_30905536del, NC_000017.11:g.30905533_30905536del, NC_000017.11:g.30905534_30905536del, NC_000017.11:g.30905535_30905536del, NC_000017.11:g.30905536del, NC_000017.11:g.30905536dup, NC_000017.11:g.30905535_30905536dup, NC_000017.11:g.30905534_30905536dup, NC_000017.11:g.30905533_30905536dup, NC_000017.11:g.30905532_30905536dup, NC_000017.10:g.29232547_29232554del, NC_000017.10:g.29232550_29232554del, NC_000017.10:g.29232551_29232554del, NC_000017.10:g.29232552_29232554del, NC_000017.10:g.29232553_29232554del, NC_000017.10:g.29232554del, NC_000017.10:g.29232554dup, NC_000017.10:g.29232553_29232554dup, NC_000017.10:g.29232552_29232554dup, NC_000017.10:g.29232551_29232554dup, NC_000017.10:g.29232550_29232554dup

Select item 148818841711.

rs1488188417 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:30902959 (GRCh38)
17:29229977 (GRCh37)
Canonical SPDI:: NC_000017.11:30902958:A:G
Gene:: TEFM (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000036/5 (GnomAD)
HGVS:: NC_000017.11:g.30902959A>G, NC_000017.10:g.29229977A>G

Select item 148814629612.

rs1488146296 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 17:30898621 (GRCh38)
17:29225639 (GRCh37)
Canonical SPDI:: NC_000017.11:30898620:G:A,NC_000017.11:30898620:G:C
Gene:: TEFM (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
C=0./0 (KOREAN)
A=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.30898621G>A, NC_000017.11:g.30898621G>C, NC_000017.10:g.29225639G>A, NC_000017.10:g.29225639G>C

Select item 148688274513.

rs1486882745 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 17:30904790 (GRCh38)
17:29231808 (GRCh37)
Canonical SPDI:: NC_000017.11:30904789:T:C,NC_000017.11:30904789:T:G
Gene:: TEFM (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000017.11:g.30904790T>C, NC_000017.11:g.30904790T>G, NC_000017.10:g.29231808T>C, NC_000017.10:g.29231808T>G

Select item 148637289914.

rs1486372899 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 17:30901345 (GRCh38)
17:29228363 (GRCh37)
Canonical SPDI:: NC_000017.11:30901344:A:C,NC_000017.11:30901344:A:G
Gene:: TEFM (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000064/9 (GnomAD)
HGVS:: NC_000017.11:g.30901345A>C, NC_000017.11:g.30901345A>G, NC_000017.10:g.29228363A>C, NC_000017.10:g.29228363A>G

Select item 148595879815.

rs1485958798 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:30902330 (GRCh38)
17:29229348 (GRCh37)
Canonical SPDI:: NC_000017.11:30902329:G:T
Gene:: TEFM (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_000017.11:g.30902330G>T, NC_000017.10:g.29229348G>T

Select item 148589842116.

rs1485898421 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 17:30905283 (GRCh38)
17:29232301 (GRCh37)
Canonical SPDI:: NC_000017.11:30905282:G:A,NC_000017.11:30905282:G:T
Gene:: TEFM (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.30905283G>A, NC_000017.11:g.30905283G>T, NC_000017.10:g.29232301G>A, NC_000017.10:g.29232301G>T

Select item 148584692017.

rs1485846920 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 17:30904986 (GRCh38)
17:29232004 (GRCh37)
Canonical SPDI:: NC_000017.11:30904985:A:C
Gene:: TEFM (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_000017.11:g.30904986A>C, NC_000017.10:g.29232004A>C

Select item 148501593718.

rs1485015937 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:30903507 (GRCh38)
17:29230525 (GRCh37)
Canonical SPDI:: NC_000017.11:30903506:G:A
Gene:: TEFM (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000142/2 (ALFA)
A=0.000037/5 (GnomAD)
A=0.000057/15 (TOPMED)
HGVS:: NC_000017.11:g.30903507G>A, NC_000017.10:g.29230525G>A

Select item 148493482219.

rs1484934822 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 17:30901211 (GRCh38)
17:29228229 (GRCh37)
Canonical SPDI:: NC_000017.11:30901210:GGG:GG
Gene:: TEFM (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GG=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.30901213del, NC_000017.10:g.29228231del

Select item 148434241120.

rs1484342411 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:30907806 (GRCh38)
17:29234824 (GRCh37)
Canonical SPDI:: NC_000017.11:30907805:G:T
Gene:: TEFM (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.30907806G>T, NC_000017.10:g.29234824G>T

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