SNP Links for Gene (Select 729220) - SNP

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Select item 14906874831.

rs1490687483 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:49848282 (GRCh38)
17:47925644 (GRCh37)
Canonical SPDI:: NC_000017.11:49848281:C:T
Gene:: TAC4 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000017.11:g.49848282C>T, NC_000017.10:g.47925644C>T, NG_029377.1:g.4736G>A, NM_001242791.1:c.*995C>T

Select item 14906545292.

rs1490654529 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:49847190 (GRCh38)
17:47924552 (GRCh37)
Canonical SPDI:: NC_000017.11:49847189:T:C
Gene:: TAC4 (Varview), FLJ45513 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency
MAF:: C=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.49847190T>C, NC_000017.10:g.47924552T>C, NG_029377.1:g.5828A>G, NM_001242791.1:c.296T>C, NR_164135.1:n.477T>C

Select item 14905753003.

rs1490575300 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATGTTT>- [Show Flanks]
Chromosome:: 17:49846452 (GRCh38)
17:47923814 (GRCh37)
Canonical SPDI:: NC_000017.11:49846446:TGTTTATGTTT:TGTTT
Gene:: TAC4 (Varview), FLJ45513 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTTT=0.000142/2 (ALFA)
-=0.000057/8 (GnomAD)
-=0.000102/27 (TOPMED)
HGVS:: NC_000017.11:g.49846452_49846457del, NC_000017.10:g.47923814_47923819del, NG_029377.1:g.6566_6571del

Select item 14894145374.

rs1489414537 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:49847517 (GRCh38)
17:47924879 (GRCh37)
Canonical SPDI:: NC_000017.11:49847516:C:T
Gene:: TAC4 (Varview), FLJ45513 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.49847517C>T, NC_000017.10:g.47924879C>T, NG_029377.1:g.5501G>A, NM_001242791.1:c.*230C>T, NR_164135.1:n.804C>T

Select item 14894000475.

rs1489400047 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:49845608 (GRCh38)
17:47922970 (GRCh37)
Canonical SPDI:: NC_000017.11:49845607:G:C
Gene:: TAC4 (Varview), FLJ45513 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000177/3 (TOMMO)
C=0.000342/1 (KOREAN)
C=0.000546/1 (Korea1K)
HGVS:: NC_000017.11:g.49845608G>C, NC_000017.10:g.47922970G>C, NG_029377.1:g.7410C>G

Select item 14887876406.

rs1488787640 [Homo sapiens]

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

Select item 14884232427.

rs1488423242 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 17:49845108 (GRCh38)
17:47922471 (GRCh37)
Canonical SPDI:: NC_000017.11:49845108:C:CC
Gene:: TAC4 (Varview), FLJ45513 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: CC=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.49845109dup, NC_000017.10:g.47922471dup, NG_029377.1:g.7909dup

Select item 14873762938.

rs1487376293 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:49847934 (GRCh38)
17:47925296 (GRCh37)
Canonical SPDI:: NC_000017.11:49847933:G:C
Gene:: TAC4 (Varview), FLJ45513 (Varview)
Functional Consequence:: synonymous_variant,downstream_transcript_variant,500B_downstream_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.49847934G>C, NC_000017.10:g.47925296G>C, NG_029377.1:g.5084C>G, NM_170685.3:c.84C>G, NM_170685.2:c.84C>G, NM_001077506.2:c.84C>G, NM_001077506.1:c.84C>G, NM_001077503.2:c.84C>G, NM_001077503.1:c.84C>G, NM_001077504.2:c.84C>G, NM_001077504.1:c.84C>G, NM_001077505.2:c.84C>G, NM_001077505.1:c.84C>G, NM_001242791.1:c.*647G>C

Select item 14872636049.

rs1487263604 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:49847986 (GRCh38)
17:47925348 (GRCh37)
Canonical SPDI:: NC_000017.11:49847985:A:G
Gene:: TAC4 (Varview), FLJ45513 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (GnomAD_exomes)
G=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.49847986A>G, NC_000017.10:g.47925348A>G, NG_029377.1:g.5032T>C, NM_170685.3:c.32T>C, NM_170685.2:c.32T>C, NM_001077506.2:c.32T>C, NM_001077506.1:c.32T>C, NM_001077503.2:c.32T>C, NM_001077503.1:c.32T>C, NM_001077504.2:c.32T>C, NM_001077504.1:c.32T>C, NM_001077505.2:c.32T>C, NM_001077505.1:c.32T>C, NM_001242791.1:c.*699A>G, NP_733786.2:p.Met11Thr, NP_001070974.1:p.Met11Thr, NP_001070971.1:p.Met11Thr, NP_001070972.1:p.Met11Thr, NP_001070973.1:p.Met11Thr

Select item 148717729710.

rs1487177297 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 17:49847546 (GRCh38)
17:47924908 (GRCh37)
Canonical SPDI:: NC_000017.11:49847545:T:G
Gene:: TAC4 (Varview), FLJ45513 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000017.11:g.49847546T>G, NC_000017.10:g.47924908T>G, NG_029377.1:g.5472A>C, NM_001242791.1:c.*259T>G, NR_164135.1:n.833T>G

Select item 148715052511.

rs1487150525 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 17:49844186 (GRCh38)
17:47921548 (GRCh37)
Canonical SPDI:: NC_000017.11:49844185:T:G
Gene:: TAC4 (Varview), FLJ45513 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.49844186T>G, NC_000017.10:g.47921548T>G, NG_029377.1:g.8832A>C

Select item 148605086512.

rs1486050865 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:49846177 (GRCh38)
17:47923539 (GRCh37)
Canonical SPDI:: NC_000017.11:49846176:C:T
Gene:: TAC4 (Varview), FLJ45513 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000017.11:g.49846177C>T, NC_000017.10:g.47923539C>T, NG_029377.1:g.6841G>A, NM_001242791.1:c.-28C>T, NR_164135.1:n.154C>T

Select item 148583552213.

rs1485835522 [Homo sapiens]

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

Select item 148538437814.

rs1485384378 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:49849277 (GRCh38)
17:47926639 (GRCh37)
Canonical SPDI:: NC_000017.11:49849276:C:T
Gene:: TAC4 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000017.11:g.49849277C>T, NC_000017.10:g.47926639C>T, NG_029377.1:g.3741G>A

Select item 148393107915.

rs1483931079 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 17:49848487 (GRCh38)
17:47925849 (GRCh37)
Canonical SPDI:: NC_000017.11:49848486:C:G,NC_000017.11:49848486:C:T
Gene:: TAC4 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.49848487C>G, NC_000017.11:g.49848487C>T, NC_000017.10:g.47925849C>G, NC_000017.10:g.47925849C>T, NG_029377.1:g.4531G>C, NG_029377.1:g.4531G>A, NM_001242791.1:c.*1200C>G, NM_001242791.1:c.*1200C>T

Select item 148358946916.

rs1483589469 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 17:49844417 (GRCh38)
17:47921779 (GRCh37)
Canonical SPDI:: NC_000017.11:49844416:A:C
Gene:: TAC4 (Varview), FLJ45513 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000054/1 (ALFA)
C=0.000026/7 (TOPMED)
C=0.000036/5 (GnomAD)
C=0.000223/1 (Estonian)
HGVS:: NC_000017.11:g.49844417A>C, NC_000017.10:g.47921779A>C, NG_029377.1:g.8601T>G

Select item 148347817017.

rs1483478170 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 17:49847833 (GRCh38)
17:47925195 (GRCh37)
Canonical SPDI:: NC_000017.11:49847832:A:C,NC_000017.11:49847832:A:T
Gene:: TAC4 (Varview), FLJ45513 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/1 (ExAC)
HGVS:: NC_000017.11:g.49847833A>C, NC_000017.11:g.49847833A>T, NC_000017.10:g.47925195A>C, NC_000017.10:g.47925195A>T, NG_029377.1:g.5185T>G, NG_029377.1:g.5185T>A, NM_001242791.1:c.*546A>C, NM_001242791.1:c.*546A>T

Select item 148299879318.

rs1482998793 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:49848021 (GRCh38)
17:47925383 (GRCh37)
Canonical SPDI:: NC_000017.11:49848020:G:C
Gene:: TAC4 (Varview), FLJ45513 (Varview)
Functional Consequence:: 5_prime_UTR_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.49848021G>C, NC_000017.10:g.47925383G>C, NG_029377.1:g.4997C>G, NM_170685.3:c.-4C>G, NM_001077506.2:c.-4C>G, NM_001077503.2:c.-4C>G, NM_001077504.2:c.-4C>G, NM_001077505.2:c.-4C>G, NM_001242791.1:c.*734G>C

Select item 148288925419.

rs1482889254 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,G [Show Flanks]
Chromosome:: 17:49847347 (GRCh38)
17:47924709 (GRCh37)
Canonical SPDI:: NC_000017.11:49847346:T:A,NC_000017.11:49847346:T:G
Gene:: TAC4 (Varview), FLJ45513 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
G=0.001092/2 (Korea1K)
HGVS:: NC_000017.11:g.49847347T>A, NC_000017.11:g.49847347T>G, NC_000017.10:g.47924709T>A, NC_000017.10:g.47924709T>G, NG_029377.1:g.5671A>T, NG_029377.1:g.5671A>C, NM_001242791.1:c.*60T>A, NM_001242791.1:c.*60T>G, NR_164135.1:n.634T>A, NR_164135.1:n.634T>G

Select item 148277745820.

rs1482777458 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:49847923 (GRCh38)
17:47925285 (GRCh37)
Canonical SPDI:: NC_000017.11:49847922:G:A
Gene:: TAC4 (Varview), FLJ45513 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.49847923G>A, NC_000017.10:g.47925285G>A, NG_029377.1:g.5095C>T, NM_170685.3:c.95C>T, NM_170685.2:c.95C>T, NM_001077506.2:c.95C>T, NM_001077506.1:c.95C>T, NM_001077503.2:c.95C>T, NM_001077503.1:c.95C>T, NM_001077504.2:c.95C>T, NM_001077504.1:c.95C>T, NM_001077505.2:c.95C>T, NM_001077505.1:c.95C>T, NM_001242791.1:c.*636G>A, NP_733786.2:p.Ala32Val, NP_001070974.1:p.Ala32Val, NP_001070971.1:p.Ala32Val, NP_001070972.1:p.Ala32Val, NP_001070973.1:p.Ala32Val

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