SNP Links for Gene (Select 5756) - SNP

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Select item 14913496361.

rs1491349636 has merged into rs35482343 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAA>-,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA [Show Flanks]
Chromosome:: 12:43798629 (GRCh38)
12:44192432 (GRCh37)
Canonical SPDI:: NC_000012.12:43798621:AAAAAAAAAAAAAAA:AAAAAAA,NC_000012.12:43798621:AAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000012.12:43798621:AAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000012.12:43798621:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000012.12:43798621:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000012.12:43798621:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000012.12:43798621:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000012.12:43798621:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA
Gene:: TWF1 (Varview), TMEM117 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
A=0.092593/55 (NorthernSweden)
A=0.175/7 (GENOME_DK)
HGVS:: NC_000012.12:g.43798629_43798636del, NC_000012.12:g.43798632_43798636del, NC_000012.12:g.43798634_43798636del, NC_000012.12:g.43798635_43798636del, NC_000012.12:g.43798636del, NC_000012.12:g.43798636dup, NC_000012.12:g.43798635_43798636dup, NC_000012.12:g.43798634_43798636dup, NC_000012.11:g.44192432_44192439del, NC_000012.11:g.44192435_44192439del, NC_000012.11:g.44192437_44192439del, NC_000012.11:g.44192438_44192439del, NC_000012.11:g.44192439del, NC_000012.11:g.44192439dup, NC_000012.11:g.44192438_44192439dup, NC_000012.11:g.44192437_44192439dup

Select item 14908382422.

rs1490838242 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:43794266 (GRCh38)
12:44188069 (GRCh37)
Canonical SPDI:: NC_000012.12:43794265:C:T
Gene:: TWF1 (Varview), TMEM117 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant,2KB_upstream_variant,upstream_transcript_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_000012.12:g.43794266C>T, NC_000012.11:g.44188069C>T, NM_002822.5:c.*1319G>A, NM_002822.4:c.*1319G>A, NR_073472.2:n.2834G>A, NR_073472.1:n.2892G>A, NR_073473.2:n.2499G>A, NR_073473.1:n.2557G>A, NM_001242397.2:c.*1319G>A, NM_001242397.1:c.*1319G>A, NM_198974.1:c.*1319G>A, XM_047429198.1:c.*1319G>A, XM_047429199.1:c.*1319G>A

Select item 14907247883.

rs1490724788 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 12:43795268 (GRCh38)
12:44189071 (GRCh37)
Canonical SPDI:: NC_000012.12:43795267:TTT:TT
Gene:: TWF1 (Varview), TMEM117 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TT=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.43795270del, NC_000012.11:g.44189073del, NM_002822.5:c.*317del, NM_002822.4:c.*317del, NR_073472.2:n.1832del, NR_073472.1:n.1890del, NR_073473.2:n.1497del, NR_073473.1:n.1555del, NM_001242397.2:c.*317del, NM_001242397.1:c.*317del, NM_198974.1:c.*317del, XM_047429198.1:c.*317del, XM_047429199.1:c.*317del

Select item 14906758404.

rs1490675840 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:43794841 (GRCh38)
12:44188644 (GRCh37)
Canonical SPDI:: NC_000012.12:43794840:T:C
Gene:: TWF1 (Varview), TMEM117 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.43794841T>C, NC_000012.11:g.44188644T>C, NM_002822.5:c.*744A>G, NM_002822.4:c.*744A>G, NR_073472.2:n.2259A>G, NR_073472.1:n.2317A>G, NR_073473.2:n.1924A>G, NR_073473.1:n.1982A>G, NM_001242397.2:c.*744A>G, NM_001242397.1:c.*744A>G, NM_198974.1:c.*744A>G, XM_047429198.1:c.*744A>G, XM_047429199.1:c.*744A>G

Select item 14905721615.

rs1490572161 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 12:43802483 (GRCh38)
12:44196286 (GRCh37)
Canonical SPDI:: NC_000012.12:43802482:A:C,NC_000012.12:43802482:A:G
Gene:: TWF1 (Varview), TMEM117 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.43802483A>C, NC_000012.12:g.43802483A>G, NC_000012.11:g.44196286A>C, NC_000012.11:g.44196286A>G

Select item 14904886986.

rs1490488698 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:43804939 (GRCh38)
12:44198742 (GRCh37)
Canonical SPDI:: NC_000012.12:43804938:G:A
Gene:: TWF1 (Varview), TMEM117 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.43804939G>A, NC_000012.11:g.44198742G>A

Select item 14898920247.

rs1489892024 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 12:43804791 (GRCh38)
12:44198594 (GRCh37)
Canonical SPDI:: NC_000012.12:43804790:T:G
Gene:: TWF1 (Varview), TMEM117 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_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.43804791T>G, NC_000012.11:g.44198594T>G

Select item 14897994498.

rs1489799449 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:43795234 (GRCh38)
12:44189037 (GRCh37)
Canonical SPDI:: NC_000012.12:43795233:C:T
Gene:: TWF1 (Varview), TMEM117 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.43795234C>T, NC_000012.11:g.44189037C>T, NM_002822.5:c.*351G>A, NM_002822.4:c.*351G>A, NR_073472.2:n.1866G>A, NR_073472.1:n.1924G>A, NR_073473.2:n.1531G>A, NR_073473.1:n.1589G>A, NM_001242397.2:c.*351G>A, NM_001242397.1:c.*351G>A, NM_198974.1:c.*351G>A, XM_047429198.1:c.*351G>A, XM_047429199.1:c.*351G>A

Select item 14897437219.

rs1489743721 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 12:43805647 (GRCh38)
12:44199450 (GRCh37)
Canonical SPDI:: NC_000012.12:43805646:A:C
Gene:: TWF1 (Varview), TMEM117 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: C=0.000008/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.43805647A>C, NC_000012.11:g.44199450A>C

Select item 148971344210.

rs1489713442 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:43800410 (GRCh38)
12:44194213 (GRCh37)
Canonical SPDI:: NC_000012.12:43800409:T:C
Gene:: TWF1 (Varview), TMEM117 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.43800410T>C, NC_000012.11:g.44194213T>C

Select item 148928618811.

rs1489286188 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:43796611 (GRCh38)
12:44190414 (GRCh37)
Canonical SPDI:: NC_000012.12:43796610:C:T
Gene:: TWF1 (Varview), TMEM117 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000015/4 (TOPMED)
HGVS:: NC_000012.12:g.43796611C>T, NC_000012.11:g.44190414C>T

Select item 148925497512.

rs1489254975 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 12:43805553 (GRCh38)
12:44199356 (GRCh37)
Canonical SPDI:: NC_000012.12:43805552:A:G,NC_000012.12:43805552:A:T
Gene:: TWF1 (Varview), TMEM117 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/1 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.43805553A>G, NC_000012.12:g.43805553A>T, NC_000012.11:g.44199356A>G, NC_000012.11:g.44199356A>T

Select item 148826387713.

rs1488263877 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:43796632 (GRCh38)
12:44190435 (GRCh37)
Canonical SPDI:: NC_000012.12:43796631:G:A
Gene:: TWF1 (Varview), TMEM117 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,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.43796632G>A, NC_000012.11:g.44190435G>A

Select item 148789762214.

rs1487897622 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 12:43805202 (GRCh38)
12:44199005 (GRCh37)
Canonical SPDI:: NC_000012.12:43805201:T:C,NC_000012.12:43805201:T:G
Gene:: TWF1 (Varview), TMEM117 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000012.12:g.43805202T>C, NC_000012.12:g.43805202T>G, NC_000012.11:g.44199005T>C, NC_000012.11:g.44199005T>G

Select item 148767331315.

rs1487673313 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 12:43797077 (GRCh38)
12:44190880 (GRCh37)
Canonical SPDI:: NC_000012.12:43797076:C:G
Gene:: TWF1 (Varview), TMEM117 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.43797077C>G, NC_000012.11:g.44190880C>G, NM_002822.5:c.781G>C, NM_002822.4:c.781G>C, NR_073472.2:n.1243G>C, NR_073472.1:n.1301G>C, NR_073473.2:n.908G>C, NR_073473.1:n.966G>C, NM_001242397.2:c.802G>C, NM_001242397.1:c.802G>C, NM_198974.1:c.487G>C, XM_047429198.1:c.487G>C, XM_047429199.1:c.487G>C, NP_002813.3:p.Gly261Arg, NP_001229326.1:p.Gly268Arg, XP_047285154.1:p.Gly163Arg, XP_047285155.1:p.Gly163Arg

Select item 148744597516.

rs1487445975 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:43799369 (GRCh38)
12:44193172 (GRCh37)
Canonical SPDI:: NC_000012.12:43799368:C:T
Gene:: TWF1 (Varview), TMEM117 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000026/7 (TOPMED)
HGVS:: NC_000012.12:g.43799369C>T, NC_000012.11:g.44193172C>T

Select item 148682614717.

rs1486826147 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 12:43806556 (GRCh38)
12:44200359 (GRCh37)
Canonical SPDI:: NC_000012.12:43806555:G:T
Gene:: TWF1 (Varview), TMEM117 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.000142/2 (ALFA)
T=0.000015/4 (TOPMED)
HGVS:: NC_000012.12:g.43806556G>T, NC_000012.11:g.44200359G>T

Select item 148636794818.

rs1486367948 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 12:43804606 (GRCh38)
12:44198409 (GRCh37)
Canonical SPDI:: NC_000012.12:43804605:T:A
Gene:: TWF1 (Varview), TMEM117 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.43804606T>A, NC_000012.11:g.44198409T>A

Select item 148612139819.

rs1486121398 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 12:43799387 (GRCh38)
12:44193190 (GRCh37)
Canonical SPDI:: NC_000012.12:43799386:T:A,NC_000012.12:43799386:T:C
Gene:: TWF1 (Varview), TMEM117 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000012.12:g.43799387T>A, NC_000012.12:g.43799387T>C, NC_000012.11:g.44193190T>A, NC_000012.11:g.44193190T>C

Select item 148599056020.

rs1485990560 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 12:43806199 (GRCh38)
12:44200002 (GRCh37)
Canonical SPDI:: NC_000012.12:43806198:G:A,NC_000012.12:43806198:G:T
Gene:: TWF1 (Varview), TMEM117 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.43806199G>A, NC_000012.12:g.43806199G>T, NC_000012.11:g.44200002G>A, NC_000012.11:g.44200002G>T, NR_073472.2:n.119C>T, NR_073472.2:n.119C>A, NR_073472.1:n.177C>T, NR_073472.1:n.177C>A, NM_198974.1:c.-638C>T, NM_198974.1:c.-638C>A

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