SNP Links for Gene (Select 92610) - SNP

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Select item 14915264911.

rs1491526491 has merged into rs34544244 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 4:112280355 (GRCh38)
4:113201511 (GRCh37)
Canonical SPDI:: NC_000004.12:112280343:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000004.12:112280343:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000004.12:112280343:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000004.12:112280343:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000004.12:112280343:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000004.12:112280343:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000004.12:112280343:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000004.12:112280343:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000004.12:112280343:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000004.12:112280343:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000004.12:112280343:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:112280343:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:112280343:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:112280343:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:112280343:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:112280343:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:112280343:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:112280343:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:112280343:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:112280343:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:112280343:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:112280343:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:112280343:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: TIFA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
TTTT=0.4119/2063 (1000Genomes)
HGVS:: NC_000004.12:g.112280355_112280367del, NC_000004.12:g.112280356_112280367del, NC_000004.12:g.112280357_112280367del, NC_000004.12:g.112280358_112280367del, NC_000004.12:g.112280360_112280367del, NC_000004.12:g.112280361_112280367del, NC_000004.12:g.112280362_112280367del, NC_000004.12:g.112280363_112280367del, NC_000004.12:g.112280364_112280367del, NC_000004.12:g.112280365_112280367del, NC_000004.12:g.112280366_112280367del, NC_000004.12:g.112280367del, NC_000004.12:g.112280367dup, NC_000004.12:g.112280366_112280367dup, NC_000004.12:g.112280365_112280367dup, NC_000004.12:g.112280364_112280367dup, NC_000004.12:g.112280363_112280367dup, NC_000004.12:g.112280361_112280367dup, NC_000004.12:g.112280346_112280367dup, NC_000004.12:g.112280345_112280367dup, NC_000004.12:g.112280367_112280368insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000004.12:g.112280367_112280368insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000004.12:g.112280367_112280368insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000004.11:g.113201511_113201523del, NC_000004.11:g.113201512_113201523del, NC_000004.11:g.113201513_113201523del, NC_000004.11:g.113201514_113201523del, NC_000004.11:g.113201516_113201523del, NC_000004.11:g.113201517_113201523del, NC_000004.11:g.113201518_113201523del, NC_000004.11:g.113201519_113201523del, NC_000004.11:g.113201520_113201523del, NC_000004.11:g.113201521_113201523del, NC_000004.11:g.113201522_113201523del, NC_000004.11:g.113201523del, NC_000004.11:g.113201523dup, NC_000004.11:g.113201522_113201523dup, NC_000004.11:g.113201521_113201523dup, NC_000004.11:g.113201520_113201523dup, NC_000004.11:g.113201519_113201523dup, NC_000004.11:g.113201517_113201523dup, NC_000004.11:g.113201502_113201523dup, NC_000004.11:g.113201501_113201523dup, NC_000004.11:g.113201523_113201524insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000004.11:g.113201523_113201524insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000004.11:g.113201523_113201524insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14913541942.

rs1491354194 [Homo sapiens]

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

Select item 14904318203.

rs1490431820 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 4:112281233 (GRCh38)
4:113202389 (GRCh37)
Canonical SPDI:: NC_000004.12:112281232:G:C
Gene:: TIFA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000004.12:g.112281233G>C, NC_000004.11:g.113202389G>C

Select item 14902673784.

rs1490267378 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 4:112281828 (GRCh38)
4:113202985 (GRCh37)
Canonical SPDI:: NC_000004.12:112281828:AAAAAAA:AAAAAAAA
Gene:: TIFA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAA=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.112281835dup, NC_000004.11:g.113202991dup

Select item 14891226215.

rs1489122621 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 4:112283666 (GRCh38)
4:113204822 (GRCh37)
Canonical SPDI:: NC_000004.12:112283665:G:C
Gene:: TIFA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.112283666G>C, NC_000004.11:g.113204822G>C

Select item 14890470076.

rs1489047007 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:112281088 (GRCh38)
4:113202244 (GRCh37)
Canonical SPDI:: NC_000004.12:112281087:T:C
Gene:: TIFA (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_000004.12:g.112281088T>C, NC_000004.11:g.113202244T>C

Select item 14887753507.

rs1488775350 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 4:112282931 (GRCh38)
4:113204087 (GRCh37)
Canonical SPDI:: NC_000004.12:112282930:C:A
Gene:: TIFA (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_000004.12:g.112282931C>A, NC_000004.11:g.113204087C>A

Select item 14886331448.

rs1488633144 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 4:112276027 (GRCh38)
4:113197183 (GRCh37)
Canonical SPDI:: NC_000004.12:112276026:G:C
Gene:: TIFA (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000004.12:g.112276027G>C, NC_000004.11:g.113197183G>C, NM_052864.3:c.*1835C>G, NM_052864.2:c.*1835C>G

Select item 14884964999.

rs1488496499 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:112279086 (GRCh38)
4:113200242 (GRCh37)
Canonical SPDI:: NC_000004.12:112279085:A:G
Gene:: TIFA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000023/6 (TOPMED)
HGVS:: NC_000004.12:g.112279086A>G, NC_000004.11:g.113200242A>G

Select item 148843483510.

rs1488434835 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:112278552 (GRCh38)
4:113199708 (GRCh37)
Canonical SPDI:: NC_000004.12:112278551:A:G
Gene:: TIFA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000015/4 (TOPMED)
HGVS:: NC_000004.12:g.112278552A>G, NC_000004.11:g.113199708A>G

Select item 148842034611.

rs1488420346 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:112283705 (GRCh38)
4:113204861 (GRCh37)
Canonical SPDI:: NC_000004.12:112283704:T:C
Gene:: TIFA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000139/2 (ALFA)
C=0.000021/3 (GnomAD)
C=0.000042/11 (TOPMED)
HGVS:: NC_000004.12:g.112283705T>C, NC_000004.11:g.113204861T>C

Select item 148796835812.

rs1487968358 [Homo sapiens]

Variant type:: DEL
Alleles:: TTA>- [Show Flanks]
Chromosome:: 4:112276864 (GRCh38)
4:113198020 (GRCh37)
Canonical SPDI:: NC_000004.12:112276863:TTA:
Gene:: TIFA (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.112276864_112276866del, NC_000004.11:g.113198020_113198022del, NM_052864.3:c.*996_*998del, NM_052864.2:c.*996_*998del

Select item 148787939813.

rs1487879398 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 4:112275246 (GRCh38)
4:113196402 (GRCh37)
Canonical SPDI:: NC_000004.12:112275245:A:G,NC_000004.12:112275245:A:T
Gene:: TIFA (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000057/8 (GnomAD)
HGVS:: NC_000004.12:g.112275246A>G, NC_000004.12:g.112275246A>T, NC_000004.11:g.113196402A>G, NC_000004.11:g.113196402A>T, NM_052864.3:c.*2616T>C, NM_052864.3:c.*2616T>A

Select item 148785373014.

rs1487853730 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:112284046 (GRCh38)
4:113205202 (GRCh37)
Canonical SPDI:: NC_000004.12:112284045:A:G
Gene:: TIFA (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_000004.12:g.112284046A>G, NC_000004.11:g.113205202A>G

Select item 148653484615.

rs1486534846 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: 4:112280066 (GRCh38)
4:113201222 (GRCh37)
Canonical SPDI:: NC_000004.12:112280064:TGT:T
Gene:: TIFA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
-=0.000014/2 (GnomAD)
-=0.000026/7 (TOPMED)
HGVS:: NC_000004.12:g.112280066_112280067del, NC_000004.11:g.113201222_113201223del

Select item 148628453316.

rs1486284533 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 4:112276580 (GRCh38)
4:113197736 (GRCh37)
Canonical SPDI:: NC_000004.12:112276579:T:G
Gene:: TIFA (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.112276580T>G, NC_000004.11:g.113197736T>G, NM_052864.3:c.*1282A>C, NM_052864.2:c.*1282A>C

Select item 148588346617.

rs1485883466 has merged into rs70958456 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 4:112284905 (GRCh38)
4:113206061 (GRCh37)
Canonical SPDI:: NC_000004.12:112284894:AAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000004.12:112284894:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000004.12:112284894:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000004.12:112284894:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000004.12:112284894:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000004.12:112284894:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000004.12:112284894:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000004.12:112284894:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000004.12:112284894:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA
Gene:: TIFA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
-=0.081/312 (ALSPAC)
HGVS:: NC_000004.12:g.112284905_112284911del, NC_000004.12:g.112284907_112284911del, NC_000004.12:g.112284908_112284911del, NC_000004.12:g.112284909_112284911del, NC_000004.12:g.112284910_112284911del, NC_000004.12:g.112284911del, NC_000004.12:g.112284911dup, NC_000004.12:g.112284909_112284911dup, NC_000004.12:g.112284905_112284911dup, NC_000004.11:g.113206061_113206067del, NC_000004.11:g.113206063_113206067del, NC_000004.11:g.113206064_113206067del, NC_000004.11:g.113206065_113206067del, NC_000004.11:g.113206066_113206067del, NC_000004.11:g.113206067del, NC_000004.11:g.113206067dup, NC_000004.11:g.113206065_113206067dup, NC_000004.11:g.113206061_113206067dup

Select item 148567537618.

rs1485675376 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:112277795 (GRCh38)
4:113198951 (GRCh37)
Canonical SPDI:: NC_000004.12:112277794:T:C
Gene:: TIFA (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.00005/7 (GnomAD)
C=0.000181/48 (TOPMED)
HGVS:: NC_000004.12:g.112277795T>C, NC_000004.11:g.113198951T>C, NM_052864.3:c.*67A>G, NM_052864.2:c.*67A>G

Select item 148554830419.

rs1485548304 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 4:112284385 (GRCh38)
4:113205541 (GRCh37)
Canonical SPDI:: NC_000004.12:112284384:T:A
Gene:: TIFA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000015/4 (TOPMED)
A=0.000106/2 (TOMMO)
A=0.000342/1 (KOREAN)
A=0.000546/1 (Korea1K)
HGVS:: NC_000004.12:g.112284385T>A, NC_000004.11:g.113205541T>A

Select item 148538664320.

rs1485386643 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 4:112281597 (GRCh38)
4:113202753 (GRCh37)
Canonical SPDI:: NC_000004.12:112281596:T:C,NC_000004.12:112281596:T:G
Gene:: TIFA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
C=0.000342/1 (KOREAN)
C=0.000546/1 (Korea1K)
C=0.000779/13 (TOMMO)
HGVS:: NC_000004.12:g.112281597T>C, NC_000004.12:g.112281597T>G, NC_000004.11:g.113202753T>C, NC_000004.11:g.113202753T>G

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