SNP Links for Gene (Select 283521) - SNP

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Select item 14913973831.

rs1491397383 has merged into rs140382483 [Homo sapiens]

Variant type:: DELINS
Alleles:: CACA>-,CA,CACACA,CACACACA [Show Flanks]
Chromosome:: 13:51842050 (GRCh38)
13:52416186 (GRCh37)
Canonical SPDI:: NC_000013.11:51842036:ACACACACACACACACA:ACACACACACACA,NC_000013.11:51842036:ACACACACACACACACA:ACACACACACACACA,NC_000013.11:51842036:ACACACACACACACACA:ACACACACACACACACACA,NC_000013.11:51842036:ACACACACACACACACA:ACACACACACACACACACACA
Gene:: TMEM272 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACACACACACACACACA=0./0 (ALFA)
AC=0.10493/526 (1000Genomes)
AC=0.11215/24 (Vietnamese)
AC=0.20536/920 (Estonian)
AC=0.21543/215 (GoNL)
AC=0.225/9 (GENOME_DK)
AC=0.235/141 (NorthernSweden)
HGVS:: NC_000013.11:g.51842038CA[6], NC_000013.11:g.51842038CA[7], NC_000013.11:g.51842038CA[9], NC_000013.11:g.51842038CA[10], NC_000013.10:g.52416174CA[6], NC_000013.10:g.52416174CA[7], NC_000013.10:g.52416174CA[9], NC_000013.10:g.52416174CA[10]

Select item 14911498382.

rs1491149838 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 13:51816653 (GRCh38)
13:52390789 (GRCh37)
Canonical SPDI:: NC_000013.11:51816652:CT:
Gene:: TMEM272 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000022/3 (GnomAD)
HGVS:: NC_000013.11:g.51816653_51816654del, NC_000013.10:g.52390789_52390790del, NM_001351003.2:c.*97_*98del, NM_001351003.1:c.*97_*98del, NM_001351005.2:c.*97_*98del, NM_001351005.1:c.*97_*98del, NM_001351006.2:c.*97_*98del, NM_001351006.1:c.*97_*98del, XM_047430281.1:c.*5085_*5086del, NR_027047.1:n.819_820del, XM_047430280.1:c.*97_*98del, XM_047430278.1:c.*97_*98del, XM_047430279.1:c.*97_*98del, NR_027048.1:n.676_677del

Select item 14911336473.

rs1491133647 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 13:51826138 (GRCh38)
13:52400274 (GRCh37)
Canonical SPDI:: NC_000013.11:51826137:CA:
Gene:: TMEM272 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.000084/1 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000013.11:g.51826138_51826139del, NC_000013.10:g.52400274_52400275del

Select item 14909363024.

rs1490936302 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 13:51838494 (GRCh38)
13:52412630 (GRCh37)
Canonical SPDI:: NC_000013.11:51838493:T:C
Gene:: TMEM272 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000007/1 (GnomAD_exomes)
C=0.000008/2 (TOPMED)
HGVS:: NC_000013.11:g.51838494T>C, NC_000013.10:g.52412630T>C, NM_001351003.2:c.37A>G, NM_001351003.1:c.37A>G, NM_001351005.2:c.-112A>G, NM_001351005.1:c.-112A>G, NM_001351006.2:c.-19A>G, NM_001351006.1:c.-19A>G, XM_047430281.1:c.145A>G, NR_027047.1:n.195A>G, XM_047430280.1:c.37A>G, XM_047430278.1:c.88A>G, XM_047430279.1:c.37A>G, NR_027048.1:n.195A>G, NP_001337932.1:p.Ile13Val, XP_047286237.1:p.Ile49Val, XP_047286236.1:p.Ile13Val, XP_047286234.1:p.Ile30Val, XP_047286235.1:p.Ile13Val

Select item 14909315285.

rs1490931528 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 13:51815063 (GRCh38)
13:52389199 (GRCh37)
Canonical SPDI:: NC_000013.11:51815062:A:C
Gene:: TMEM272 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.51815063A>C, NC_000013.10:g.52389199A>C, NM_001351003.2:c.*1688T>G, NM_001351003.1:c.*1688T>G, NM_001351005.2:c.*1688T>G, NM_001351005.1:c.*1688T>G, NM_001351006.2:c.*1688T>G, NM_001351006.1:c.*1688T>G, NM_178515.2:c.426T>G, XM_047430281.1:c.*6676T>G, NR_027047.1:n.2410T>G, XM_047430280.1:c.*1688T>G, XM_047430278.1:c.*1688T>G, XM_047430279.1:c.*1688T>G, NR_027048.1:n.2267T>G, NM_178515.1:c.426T>G

Select item 14907913036.

rs1490791303 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 13:51831107 (GRCh38)
13:52405243 (GRCh37)
Canonical SPDI:: NC_000013.11:51831106:G:A
Gene:: TMEM272 (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_000013.11:g.51831107G>A, NC_000013.10:g.52405243G>A

Select item 14906487187.

rs1490648718 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 13:51846260 (GRCh38)
13:52420396 (GRCh37)
Canonical SPDI:: NC_000013.11:51846259:G:T
Gene:: TMEM272 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000013.11:g.51846260G>T, NC_000013.10:g.52420396G>T

Select item 14906007408.

rs1490600740 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 13:51829537 (GRCh38)
13:52403673 (GRCh37)
Canonical SPDI:: NC_000013.11:51829536:A:G
Gene:: TMEM272 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000013.11:g.51829537A>G, NC_000013.10:g.52403673A>G

Select item 14905881539.

rs1490588153 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 13:51835821 (GRCh38)
13:52409957 (GRCh37)
Canonical SPDI:: NC_000013.11:51835820:T:A
Gene:: TMEM272 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000108/2 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000029/4 (GnomAD)
A=0.000446/2 (Estonian)
HGVS:: NC_000013.11:g.51835821T>A, NC_000013.10:g.52409957T>A

Select item 149045464210.

rs1490454642 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 13:51816378 (GRCh38)
13:52390514 (GRCh37)
Canonical SPDI:: NC_000013.11:51816377:A:C
Gene:: TMEM272 (Varview)
Functional Consequence:: 3_prime_UTR_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_000013.11:g.51816378A>C, NC_000013.10:g.52390514A>C, NM_001351003.2:c.*373T>G, NM_001351003.1:c.*373T>G, NM_001351005.2:c.*373T>G, NM_001351005.1:c.*373T>G, NM_001351006.2:c.*373T>G, NM_001351006.1:c.*373T>G, XM_047430281.1:c.*5361T>G, NR_027047.1:n.1095T>G, XM_047430280.1:c.*373T>G, XM_047430278.1:c.*373T>G, XM_047430279.1:c.*373T>G, NR_027048.1:n.952T>G

Select item 149032346311.

rs1490323463 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,G [Show Flanks]
Chromosome:: 13:51820832 (GRCh38)
13:52394968 (GRCh37)
Canonical SPDI:: NC_000013.11:51820831:T:A,NC_000013.11:51820831:T:G
Gene:: TMEM272 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_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_000013.11:g.51820832T>A, NC_000013.11:g.51820832T>G, NC_000013.10:g.52394968T>A, NC_000013.10:g.52394968T>G, XM_047430281.1:c.*907A>T, XM_047430281.1:c.*907A>C

Select item 149010139712.

rs1490101397 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 13:51838844 (GRCh38)
13:52412980 (GRCh37)
Canonical SPDI:: NC_000013.11:51838843:C:T
Gene:: TMEM272 (Varview)
Functional Consequence:: intron_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_000013.11:g.51838844C>T, NC_000013.10:g.52412980C>T

Select item 149009805513.

rs1490098055 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 13:51835016 (GRCh38)
13:52409152 (GRCh37)
Canonical SPDI:: NC_000013.11:51835015:C:T
Gene:: TMEM272 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000015/4 (TOPMED)
T=0.000043/6 (GnomAD)
HGVS:: NC_000013.11:g.51835016C>T, NC_000013.10:g.52409152C>T

Select item 149005244914.

rs1490052449 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 13:51832602 (GRCh38)
13:52406738 (GRCh37)
Canonical SPDI:: NC_000013.11:51832601:C:A
Gene:: TMEM272 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
HGVS:: NC_000013.11:g.51832602C>A, NC_000013.10:g.52406738C>A

Select item 148995401315.

rs1489954013 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 13:51816767 (GRCh38)
13:52390903 (GRCh37)
Canonical SPDI:: NC_000013.11:51816766:G:C
Gene:: TMEM272 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
C=0.000015/2 (GnomAD_exomes)
HGVS:: NC_000013.11:g.51816767G>C, NC_000013.10:g.52390903G>C, NM_001351003.2:c.548C>G, NM_001351003.1:c.548C>G, NM_001351005.2:c.317C>G, NM_001351005.1:c.317C>G, NM_001351006.2:c.350C>G, NM_001351006.1:c.350C>G, XM_047430281.1:c.*4972C>G, NR_027047.1:n.706C>G, XM_047430280.1:c.548C>G, XM_047430278.1:c.599C>G, XM_047430279.1:c.548C>G, NR_027048.1:n.563C>G, NP_001337932.1:p.Ala183Gly, NP_001337934.1:p.Ala106Gly, NP_001337935.1:p.Ala117Gly, XP_047286236.1:p.Ala183Gly, XP_047286234.1:p.Ala200Gly, XP_047286235.1:p.Ala183Gly

Select item 148990103916.

rs1489901039 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 13:51837196 (GRCh38)
13:52411332 (GRCh37)
Canonical SPDI:: NC_000013.11:51837195:T:C
Gene:: TMEM272 (Varview)
Functional Consequence:: 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_000013.11:g.51837196T>C, NC_000013.10:g.52411332T>C

Select item 148961016017.

rs1489610160 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 13:51824643 (GRCh38)
13:52398779 (GRCh37)
Canonical SPDI:: NC_000013.11:51824642:T:C
Gene:: TMEM272 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000015/4 (TOPMED)
HGVS:: NC_000013.11:g.51824643T>C, NC_000013.10:g.52398779T>C

Select item 148939905418.

rs1489399054 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 13:51840816 (GRCh38)
13:52414952 (GRCh37)
Canonical SPDI:: NC_000013.11:51840815:G:A
Gene:: TMEM272 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000895/4 (ALFA)
A=0.000021/3 (GnomAD)
A=0.000893/4 (Estonian)
HGVS:: NC_000013.11:g.51840816G>A, NC_000013.10:g.52414952G>A

Select item 148909632319.

rs1489096323 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 13:51816134 (GRCh38)
13:52390270 (GRCh37)
Canonical SPDI:: NC_000013.11:51816133:T:G
Gene:: TMEM272 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
G=0.000023/6 (TOPMED)
HGVS:: NC_000013.11:g.51816134T>G, NC_000013.10:g.52390270T>G, NM_001351003.2:c.*617A>C, NM_001351003.1:c.*617A>C, NM_001351005.2:c.*617A>C, NM_001351005.1:c.*617A>C, NM_001351006.2:c.*617A>C, NM_001351006.1:c.*617A>C, XM_047430281.1:c.*5605A>C, NR_027047.1:n.1339A>C, XM_047430280.1:c.*617A>C, XM_047430278.1:c.*617A>C, XM_047430279.1:c.*617A>C, NR_027048.1:n.1196A>C

Select item 148909033920.

rs1489090339 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 13:51839381 (GRCh38)
13:52413517 (GRCh37)
Canonical SPDI:: NC_000013.11:51839380:G:A
Gene:: TMEM272 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.51839381G>A, NC_000013.10:g.52413517G>A

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