SNP Links for Gene (Select 54970) - SNP

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Select item 14913255701.

rs1491325570 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 11:113379818 (GRCh38)
11:113250540 (GRCh37)
Canonical SPDI:: NC_000011.10:113379817:TA:
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000011.10:g.113379818_113379819del, NC_000011.9:g.113250540_113250541del

Select item 14912947952.

rs1491294795 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 11:113351331 (GRCh38)
11:113222053 (GRCh37)
Canonical SPDI:: NC_000011.10:113351329:ACA:A
Gene:: TTC12 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
-=0.000008/1 (ExAC)
-=0.000014/2 (GnomAD)
-=0.00002/5 (GnomAD_exomes)
-=0.000026/7 (TOPMED)
HGVS:: NC_000011.10:g.113351331_113351332del, NC_000011.9:g.113222053_113222054del, NW_003871078.1:g.534057_534058del

Select item 14910602713.

rs1491060271 has merged into rs34496236 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA [Show Flanks]
Chromosome:: 11:113323115 (GRCh38)
11:113193837 (GRCh37)
Canonical SPDI:: NC_000011.10:113323102:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000011.10:113323102:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000011.10:113323102:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000011.10:113323102:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000011.10:113323102:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000011.10:113323102:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000011.10:113323102:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000011.10:113323102:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000011.10:113323102:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:113323102:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:113323102:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA
Gene:: TTC12 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.113323115_113323121del, NC_000011.10:g.113323117_113323121del, NC_000011.10:g.113323118_113323121del, NC_000011.10:g.113323119_113323121del, NC_000011.10:g.113323120_113323121del, NC_000011.10:g.113323121del, NC_000011.10:g.113323121dup, NC_000011.10:g.113323120_113323121dup, NC_000011.10:g.113323119_113323121dup, NC_000011.10:g.113323118_113323121dup, NC_000011.10:g.113323117_113323121dup, NC_000011.9:g.113193837_113193843del, NC_000011.9:g.113193839_113193843del, NC_000011.9:g.113193840_113193843del, NC_000011.9:g.113193841_113193843del, NC_000011.9:g.113193842_113193843del, NC_000011.9:g.113193843del, NC_000011.9:g.113193843dup, NC_000011.9:g.113193842_113193843dup, NC_000011.9:g.113193841_113193843dup, NC_000011.9:g.113193840_113193843dup, NC_000011.9:g.113193839_113193843dup, NW_003871078.1:g.505841_505847del, NW_003871078.1:g.505843_505847del, NW_003871078.1:g.505844_505847del, NW_003871078.1:g.505845_505847del, NW_003871078.1:g.505846_505847del, NW_003871078.1:g.505847del, NW_003871078.1:g.505847dup, NW_003871078.1:g.505846_505847dup, NW_003871078.1:g.505845_505847dup, NW_003871078.1:g.505844_505847dup, NW_003871078.1:g.505843_505847dup

Select item 14909477724.

rs1490947772 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 11:113380835 (GRCh38)
11:113251557 (GRCh37)
Canonical SPDI:: NC_000011.10:113380834:G:A,NC_000011.10:113380834:G:T
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.113380835G>A, NC_000011.10:g.113380835G>T, NC_000011.9:g.113251557G>A, NC_000011.9:g.113251557G>T

Select item 14909345885.

rs1490934588 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:113383574 (GRCh38)
11:113254296 (GRCh37)
Canonical SPDI:: NC_000011.10:113383573:T:C
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.113383574T>C, NC_000011.9:g.113254296T>C, NG_012976.1:g.784T>C

Select item 14909035916.

rs1490903591 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:113349974 (GRCh38)
11:113220696 (GRCh37)
Canonical SPDI:: NC_000011.10:113349973:G:A
Gene:: TTC12 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000029/4 (GnomAD)
HGVS:: NC_000011.10:g.113349974G>A, NC_000011.9:g.113220696G>A, NW_003871078.1:g.532700G>A

Select item 14908770817.

rs1490877081 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:113351128 (GRCh38)
11:113221850 (GRCh37)
Canonical SPDI:: NC_000011.10:113351127:A:G
Gene:: TTC12 (Varview)
Functional Consequence:: intron_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_000011.10:g.113351128A>G, NC_000011.9:g.113221850A>G, NW_003871078.1:g.533854A>G

Select item 14908226158.

rs1490822615 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 11:113326999 (GRCh38)
11:113197721 (GRCh37)
Canonical SPDI:: NC_000011.10:113326998:T:G
Gene:: TTC12 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000054/1 (ALFA)
G=0.000021/3 (GnomAD)
G=0.000023/6 (TOPMED)
G=0.000223/1 (Estonian)
HGVS:: NC_000011.10:g.113326999T>G, NC_000011.9:g.113197721T>G, NW_003871078.1:g.509725T>G

Select item 14908191639.

rs1490819163 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:113342083 (GRCh38)
11:113212805 (GRCh37)
Canonical SPDI:: NC_000011.10:113342082:C:T
Gene:: TTC12 (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_000011.10:g.113342083C>T, NC_000011.9:g.113212805C>T, NW_003871078.1:g.524809C>T

Select item 149077521510.

rs1490775215 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 11:113359058 (GRCh38)
11:113229780 (GRCh37)
Canonical SPDI:: NC_000011.10:113359057:C:G
Gene:: TTC12 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.113359058C>G, NC_000011.9:g.113229780C>G, NW_003871078.1:g.541784C>G

Select item 149076801911.

rs1490768019 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 11:113343175 (GRCh38)
11:113213897 (GRCh37)
Canonical SPDI:: NC_000011.10:113343174:C:G
Gene:: TTC12 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000015/4 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000011.10:g.113343175C>G, NC_000011.9:g.113213897C>G, NW_003871078.1:g.525901C>G

Select item 149072456912.

rs1490724569 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:113384750 (GRCh38)
11:113255472 (GRCh37)
Canonical SPDI:: NC_000011.10:113384749:C:T
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0./0 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.113384750C>T, NC_000011.9:g.113255472C>T, NG_012976.1:g.1960C>T

Select item 149070934513.

rs1490709345 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:113325901 (GRCh38)
11:113196623 (GRCh37)
Canonical SPDI:: NC_000011.10:113325900:A:G
Gene:: TTC12 (Varview)
Functional Consequence:: intron_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_000011.10:g.113325901A>G, NC_000011.9:g.113196623A>G, NW_003871078.1:g.508627A>G

Select item 149063253814.

rs1490632538 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 11:113319141 (GRCh38)
11:113189863 (GRCh37)
Canonical SPDI:: NC_000011.10:113319140:T:G
Gene:: TTC12 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.113319141T>G, NC_000011.9:g.113189863T>G, NW_003871078.1:g.501867T>G

Select item 149057832015.

rs1490578320 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:113368604 (GRCh38)
11:113239326 (GRCh37)
Canonical SPDI:: NC_000011.10:113368603:G:A
Gene:: TTC12 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000021/3 (GnomAD)
A=0.000021/3 (GnomAD_exomes)
HGVS:: NC_000011.10:g.113368604G>A, NC_000011.9:g.113239326G>A, NR_165393.1:n.1884G>A

Select item 149055638916.

rs1490556389 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 11:113360110 (GRCh38)
11:113230832 (GRCh37)
Canonical SPDI:: NC_000011.10:113360109:C:G
Gene:: TTC12 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000011.10:g.113360110C>G, NC_000011.9:g.113230832C>G, NW_003871078.1:g.542836C>G

Select item 149050116817.

rs1490501168 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 11:113367277 (GRCh38)
11:113237999 (GRCh37)
Canonical SPDI:: NC_000011.10:113367276:A:C,NC_000011.10:113367276:A:G
Gene:: TTC12 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
C=0.001092/2 (Korea1K)
HGVS:: NC_000011.10:g.113367277A>C, NC_000011.10:g.113367277A>G, NC_000011.9:g.113237999A>C, NC_000011.9:g.113237999A>G

Select item 149049884818.

rs1490498848 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:113352573 (GRCh38)
11:113223295 (GRCh37)
Canonical SPDI:: NC_000011.10:113352572:A:G
Gene:: TTC12 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000011.10:g.113352573A>G, NC_000011.9:g.113223295A>G, NW_003871078.1:g.535299A>G

Select item 149047022919.

rs1490470229 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 11:113368198 (GRCh38)
11:113238920 (GRCh37)
Canonical SPDI:: NC_000011.10:113368197:A:C
Gene:: TTC12 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000029/4 (GnomAD)
HGVS:: NC_000011.10:g.113368198A>C, NC_000011.9:g.113238920A>C, NR_147891.2:n.2105A>C, NR_147891.1:n.2159A>C, NR_165393.1:n.1589A>C

Select item 149045665220.

rs1490456652 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,G [Show Flanks]
Chromosome:: 11:113381869 (GRCh38)
11:113252591 (GRCh37)
Canonical SPDI:: NC_000011.10:113381868:T:A,NC_000011.10:113381868:T:G
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
G=0.000177/3 (TOMMO)
HGVS:: NC_000011.10:g.113381869T>A, NC_000011.10:g.113381869T>G, NC_000011.9:g.113252591T>A, NC_000011.9:g.113252591T>G

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