SNP Links for Gene (Select 90488) - SNP

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Select item 14915505051.

rs1491550505 [Homo sapiens]

Variant type:: DEL
Alleles:: CC>- [Show Flanks]
Chromosome:: 12:106955480 (GRCh38)
12:107349258 (GRCh37)
Canonical SPDI:: NC_000012.12:106955479:CC:
Gene:: TMEM263 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: -=0.0143/53 (TWINSUK)
-=0.0153/59 (ALSPAC)
HGVS:: NC_000012.12:g.106955480_106955481del, NC_000012.11:g.107349258_107349259del, NG_056541.1:g.10_11del

Select item 14913466582.

rs1491346658 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 12:106962215 (GRCh38)
12:107355994 (GRCh37)
Canonical SPDI:: NC_000012.12:106962215::G
Gene:: TMEM263 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000021/3 (GnomAD)
HGVS:: NC_000012.12:g.106962215_106962216insG, NC_000012.11:g.107355993_107355994insG

Select item 14912991513.

rs1491299151 [Homo sapiens]

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

Select item 14912935154.

rs1491293515 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 12:106972860 (GRCh38)
12:107366638 (GRCh37)
Canonical SPDI:: NC_000012.12:106972859:CT:
Gene:: TMEM263 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
HGVS:: NC_000012.12:g.106972860_106972861del, NC_000012.11:g.107366638_107366639del, NM_152261.4:c.*1469_*1470del, NM_152261.3:c.*1469_*1470del, NM_152261.2:c.*1469_*1470del, NM_001319662.2:c.*1469_*1470del, NM_001319662.1:c.*1469_*1470del, NM_001319666.2:c.*1469_*1470del, NM_001319666.1:c.*1469_*1470del, NM_001319664.2:c.*1469_*1470del, NM_001319664.1:c.*1469_*1470del, NM_001319663.2:c.*1469_*1470del, NM_001319663.1:c.*1469_*1470del, NM_001319661.2:c.*1469_*1470del, NM_001319661.1:c.*1469_*1470del

Select item 14910174635.

rs1491017463 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GTAT,GTGTAT,GTGTGTGTAT [Show Flanks]
Chromosome:: 12:106957210 (GRCh38)
12:107350989 (GRCh37)
Canonical SPDI:: NC_000012.12:106957210:T:TGTAT,NC_000012.12:106957210:T:TGTGTAT,NC_000012.12:106957210:T:TGTGTGTGTAT
Gene:: TMEM263 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTAT=0./0 (ALFA)
TGTGTGTGTA=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.106957211_106957212insGTAT, NC_000012.12:g.106957211TG[2]TAT[1], NC_000012.12:g.106957211TG[4]TAT[1], NC_000012.11:g.107350989_107350990insGTAT, NC_000012.11:g.107350989TG[2]TAT[1], NC_000012.11:g.107350989TG[4]TAT[1]

Select item 14909596716.

rs1490959671 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:106955317 (GRCh38)
12:107349095 (GRCh37)
Canonical SPDI:: NC_000012.12:106955316:A:G
Gene:: TMEM263 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_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_000012.12:g.106955317A>G, NC_000012.11:g.107349095A>G

Select item 14908138517.

rs1490813851 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 12:106971161 (GRCh38)
12:107364939 (GRCh37)
Canonical SPDI:: NC_000012.12:106971160:G:C
Gene:: TMEM263 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.106971161G>C, NC_000012.11:g.107364939G>C, NM_152261.4:c.121G>C, NM_152261.3:c.121G>C, NM_152261.2:c.121G>C, NM_001319662.2:c.121G>C, NM_001319662.1:c.121G>C, NM_001319666.2:c.52G>C, NM_001319666.1:c.52G>C, NM_001319664.2:c.121G>C, NM_001319664.1:c.121G>C, NM_001319663.2:c.121G>C, NM_001319663.1:c.121G>C, NM_001319661.2:c.121G>C, NM_001319661.1:c.121G>C, NP_689474.1:p.Gly41Arg, NP_001306591.1:p.Gly41Arg, NP_001306595.1:p.Gly18Arg, NP_001306593.1:p.Gly41Arg, NP_001306592.1:p.Gly41Arg, NP_001306590.1:p.Gly41Arg

Select item 14907442408.

rs1490744240 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 12:106960445 (GRCh38)
12:107354223 (GRCh37)
Canonical SPDI:: NC_000012.12:106960444:G:C
Gene:: TMEM263 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.106960445G>C, NC_000012.11:g.107354223G>C

Select item 14906518989.

rs1490651898 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:106957782 (GRCh38)
12:107351560 (GRCh37)
Canonical SPDI:: NC_000012.12:106957781:G:A
Gene:: TMEM263 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.106957782G>A, NC_000012.11:g.107351560G>A

Select item 149014319610.

rs1490143196 [Homo sapiens]

Variant type:: INS
Alleles:: ->CCA [Show Flanks]
Chromosome:: 12:106954874 (GRCh38)
12:107348653 (GRCh37)
Canonical SPDI:: NC_000012.12:106954874::CCA
Gene:: TMEM263 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCA=0./0 (ALFA)
CCA=0.000029/4 (GnomAD)
CCA=0.000045/12 (TOPMED)
HGVS:: NC_000012.12:g.106954874_106954875insCCA, NC_000012.11:g.107348652_107348653insCCA

Select item 148992741011.

rs1489927410 [Homo sapiens]

Variant type:: SNV:
Alleles:: G>T
Chromosome:: no mapping
Canonical SPDI:

Select item 148990154312.

rs1489901543 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 12:106963690 (GRCh38)
12:107357468 (GRCh37)
Canonical SPDI:: NC_000012.12:106963689:G:C
Gene:: TMEM263 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.106963690G>C, NC_000012.11:g.107357468G>C

Select item 148972519213.

rs1489725192 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:106956555 (GRCh38)
12:107350333 (GRCh37)
Canonical SPDI:: NC_000012.12:106956554:A:G
Gene:: TMEM263 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.106956555A>G, NC_000012.11:g.107350333A>G

Select item 148960176914.

rs1489601769 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTTTG>- [Show Flanks]
Chromosome:: 12:106954361 (GRCh38)
12:107348139 (GRCh37)
Canonical SPDI:: NC_000012.12:106954358:TGCTTTG:TG
Gene:: TMEM263 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.106954361_106954365del, NC_000012.11:g.107348139_107348143del

Select item 148938880015.

rs1489388800 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACA>- [Show Flanks]
Chromosome:: 12:106964873 (GRCh38)
12:107358651 (GRCh37)
Canonical SPDI:: NC_000012.12:106964870:CAACA:CA
Gene:: TMEM263 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CA=0./0 (ALFA)
-=0.000008/2 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.106964873_106964875del, NC_000012.11:g.107358651_107358653del

Select item 148903573716.

rs1489035737 [Homo sapiens]

Variant type:: DELINS
Alleles:: AATAATAAAGAT>- [Show Flanks]
Chromosome:: 12:106974185 (GRCh38)
12:107367963 (GRCh37)
Canonical SPDI:: NC_000012.12:106974183:TAATAATAAAGAT:T
Gene:: TMEM263 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.106974185_106974196del, NC_000012.11:g.107367963_107367974del

Select item 148892066217.

rs1488920662 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 12:106972424 (GRCh38)
12:107366203 (GRCh37)
Canonical SPDI:: NC_000012.12:106972424:AAAA:AAAAA
Gene:: TMEM263 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAA=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.106972428dup, NC_000012.11:g.107366206dup, NM_152261.4:c.*1037dup, NM_152261.3:c.*1037dup, NM_152261.2:c.*1037dup, NM_001319662.2:c.*1037dup, NM_001319662.1:c.*1037dup, NM_001319666.2:c.*1037dup, NM_001319666.1:c.*1037dup, NM_001319664.2:c.*1037dup, NM_001319664.1:c.*1037dup, NM_001319663.2:c.*1037dup, NM_001319663.1:c.*1037dup, NM_001319661.2:c.*1037dup, NM_001319661.1:c.*1037dup

Select item 148884765918.

rs1488847659 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 12:106957062 (GRCh38)
12:107350840 (GRCh37)
Canonical SPDI:: NC_000012.12:106957061:T:A
Gene:: TMEM263 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.106957062T>A, NC_000012.11:g.107350840T>A, NM_001319662.2:c.-94T>A, NM_001319662.1:c.-94T>A

Select item 148880459519.

rs1488804595 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:106956415 (GRCh38)
12:107350193 (GRCh37)
Canonical SPDI:: NC_000012.12:106956414:C:T
Gene:: TMEM263 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.00007/1 (ALFA)
HGVS:: NC_000012.12:g.106956415C>T, NC_000012.11:g.107350193C>T

Select item 148874328620.

rs1488743286 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:106956671 (GRCh38)
12:107350449 (GRCh37)
Canonical SPDI:: NC_000012.12:106956670:G:A
Gene:: TMEM263 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.106956671G>A, NC_000012.11:g.107350449G>A

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