SNP Links for Gene (Select 117145) - SNP

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Select item 14915871071.

rs1491587107 has merged into rs11304399 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAA>-,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 1:151871331 (GRCh38)
1:151843807 (GRCh37)
Canonical SPDI:: NC_000001.11:151871325:AAAAAAAAAAAAAAAAAA:AAAAA,NC_000001.11:151871325:AAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000001.11:151871325:AAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000001.11:151871325:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000001.11:151871325:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:151871325:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:151871325:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:151871325:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:151871325:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:151871325:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:151871325:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:151871325:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:151871325:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:151871325:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:151871325:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:151871325:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:151871325:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:151871325:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: THEM4 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000001.11:g.151871331_151871343del, NC_000001.11:g.151871335_151871343del, NC_000001.11:g.151871336_151871343del, NC_000001.11:g.151871337_151871343del, NC_000001.11:g.151871339_151871343del, NC_000001.11:g.151871340_151871343del, NC_000001.11:g.151871341_151871343del, NC_000001.11:g.151871342_151871343del, NC_000001.11:g.151871343del, NC_000001.11:g.151871343dup, NC_000001.11:g.151871342_151871343dup, NC_000001.11:g.151871341_151871343dup, NC_000001.11:g.151871340_151871343dup, NC_000001.11:g.151871338_151871343dup, NC_000001.11:g.151871337_151871343dup, NC_000001.11:g.151871330_151871343dup, NC_000001.11:g.151871327_151871343dup, NC_000001.11:g.151871343_151871344insAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.151843807_151843819del, NC_000001.10:g.151843811_151843819del, NC_000001.10:g.151843812_151843819del, NC_000001.10:g.151843813_151843819del, NC_000001.10:g.151843815_151843819del, NC_000001.10:g.151843816_151843819del, NC_000001.10:g.151843817_151843819del, NC_000001.10:g.151843818_151843819del, NC_000001.10:g.151843819del, NC_000001.10:g.151843819dup, NC_000001.10:g.151843818_151843819dup, NC_000001.10:g.151843817_151843819dup, NC_000001.10:g.151843816_151843819dup, NC_000001.10:g.151843814_151843819dup, NC_000001.10:g.151843813_151843819dup, NC_000001.10:g.151843806_151843819dup, NC_000001.10:g.151843803_151843819dup, NC_000001.10:g.151843819_151843820insAAAAAAAAAAAAAAAAAAA, NM_053055.5:c.*3550_*3562del, NM_053055.5:c.*3554_*3562del, NM_053055.5:c.*3555_*3562del, NM_053055.5:c.*3556_*3562del, NM_053055.5:c.*3558_*3562del, NM_053055.5:c.*3559_*3562del, NM_053055.5:c.*3560_*3562del, NM_053055.5:c.*3561_*3562del, NM_053055.5:c.*3562del, NM_053055.5:c.*3562dup, NM_053055.5:c.*3561_*3562dup, NM_053055.5:c.*3560_*3562dup, NM_053055.5:c.*3559_*3562dup, NM_053055.5:c.*3557_*3562dup, NM_053055.5:c.*3556_*3562dup, NM_053055.5:c.*3549_*3562dup, NM_053055.5:c.*3546_*3562dup, NM_053055.5:c.*3562_*3563insTTTTTTTTTTTTTTTTTTT, NM_053055.4:c.*3550_*3562del, NM_053055.4:c.*3554_*3562del, NM_053055.4:c.*3555_*3562del, NM_053055.4:c.*3556_*3562del, NM_053055.4:c.*3558_*3562del, NM_053055.4:c.*3559_*3562del, NM_053055.4:c.*3560_*3562del, NM_053055.4:c.*3561_*3562del, NM_053055.4:c.*3562del, NM_053055.4:c.*3562dup, NM_053055.4:c.*3561_*3562dup, NM_053055.4:c.*3560_*3562dup, NM_053055.4:c.*3559_*3562dup, NM_053055.4:c.*3557_*3562dup, NM_053055.4:c.*3556_*3562dup, NM_053055.4:c.*3549_*3562dup, NM_053055.4:c.*3546_*3562dup, NM_053055.4:c.*3562_*3563insTTTTTTTTTTTTTTTTTTT

Select item 14915866292.

rs1491586629 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,AA [Show Flanks]
Chromosome:: 1:151899481 (GRCh38)
1:151871958 (GRCh37)
Canonical SPDI:: NC_000001.11:151899481::A,NC_000001.11:151899481::AA
Gene:: THEM4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
A=0.00059/40 (GnomAD)
A=0.00306/51 (TOMMO)
HGVS:: NC_000001.11:g.151899481_151899482insA, NC_000001.11:g.151899481_151899482insAA, NC_000001.10:g.151871957_151871958insA, NC_000001.10:g.151871957_151871958insAA

Select item 14915725183.

rs1491572518 [Homo sapiens]

Variant type:: DEL
Alleles:: GA>- [Show Flanks]
Chromosome:: 1:151871325 (GRCh38)
1:151843801 (GRCh37)
Canonical SPDI:: NC_000001.11:151871324:GA:
Gene:: THEM4 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00025/3 (ALFA)
-=0.0016/45 (TOMMO)
HGVS:: NC_000001.11:g.151871325_151871326del, NC_000001.10:g.151843801_151843802del, NM_053055.5:c.*3562_*3563del, NM_053055.4:c.*3562_*3563del

Select item 14915677404.

rs1491567740 has merged into rs1491196092 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>- [Show Flanks]
Chromosome:: 1:151878891 (GRCh38)
1:151851367 (GRCh37)
Canonical SPDI:: NC_000001.11:151878888:TATA:TA
Gene:: THEM4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATA=0.00105/17 (ALFA)
-=0.00155/24 (TOMMO)
-=0.00226/4 (Korea1K)
-=0.00234/15 (1000Genomes)
-=0.00933/118 (GnomAD)
HGVS:: NC_000001.11:g.151878889TA[1], NC_000001.10:g.151851365TA[1]

Select item 14913964105.

rs1491396410 has merged into rs35928322 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA [Show Flanks]
Chromosome:: 1:151882385 (GRCh38)
1:151854861 (GRCh37)
Canonical SPDI:: NC_000001.11:151882372:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:151882372:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:151882372:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:151882372:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:151882372:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:151882372:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:151882372:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:151882372:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:151882372:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:151882372:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA
Gene:: THEM4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
-=0.0996/384 (ALSPAC)
-=0.425/17 (GENOME_DK)
HGVS:: NC_000001.11:g.151882385_151882390del, NC_000001.11:g.151882386_151882390del, NC_000001.11:g.151882387_151882390del, NC_000001.11:g.151882388_151882390del, NC_000001.11:g.151882389_151882390del, NC_000001.11:g.151882390del, NC_000001.11:g.151882390dup, NC_000001.11:g.151882389_151882390dup, NC_000001.11:g.151882388_151882390dup, NC_000001.11:g.151882387_151882390dup, NC_000001.10:g.151854861_151854866del, NC_000001.10:g.151854862_151854866del, NC_000001.10:g.151854863_151854866del, NC_000001.10:g.151854864_151854866del, NC_000001.10:g.151854865_151854866del, NC_000001.10:g.151854866del, NC_000001.10:g.151854866dup, NC_000001.10:g.151854865_151854866dup, NC_000001.10:g.151854864_151854866dup, NC_000001.10:g.151854863_151854866dup

Select item 14912989866.

rs1491298986 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 1:151882372 (GRCh38)
1:151854848 (GRCh37)
Canonical SPDI:: NC_000001.11:151882371:CA:
Gene:: THEM4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000001.11:g.151882372_151882373del, NC_000001.10:g.151854848_151854849del

Select item 14912289697.

rs1491228969 [Homo sapiens]

Variant type:: DEL
Alleles:: TC>- [Show Flanks]
Chromosome:: 1:151899481 (GRCh38)
1:151871957 (GRCh37)
Canonical SPDI:: NC_000001.11:151899480:TC:
Gene:: THEM4 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000001.11:g.151899481_151899482del, NC_000001.10:g.151871957_151871958del

Select item 14911960928.

rs1491196092 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>- [Show Flanks]
Chromosome:: 1:151878891 (GRCh38)
1:151851367 (GRCh37)
Canonical SPDI:: NC_000001.11:151878888:TATA:TA
Gene:: THEM4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATA=0.00105/17 (ALFA)
-=0.00155/24 (TOMMO)
-=0.00226/4 (Korea1K)
-=0.00234/15 (1000Genomes)
-=0.00933/118 (GnomAD)
HGVS:: NC_000001.11:g.151878889TA[1], NC_000001.10:g.151851365TA[1]

Select item 14910865149.

rs1491086514 has merged into rs58168472 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA [Show Flanks]
Chromosome:: 1:151899495 (GRCh38)
1:151871971 (GRCh37)
Canonical SPDI:: NC_000001.11:151899482:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:151899482:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:151899482:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:151899482:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:151899482:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:151899482:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:151899482:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:151899482:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:151899482:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA
Gene:: THEM4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000001.11:g.151899495_151899498del, NC_000001.11:g.151899496_151899498del, NC_000001.11:g.151899497_151899498del, NC_000001.11:g.151899498del, NC_000001.11:g.151899498dup, NC_000001.11:g.151899497_151899498dup, NC_000001.11:g.151899496_151899498dup, NC_000001.11:g.151899495_151899498dup, NC_000001.11:g.151899494_151899498dup, NC_000001.10:g.151871971_151871974del, NC_000001.10:g.151871972_151871974del, NC_000001.10:g.151871973_151871974del, NC_000001.10:g.151871974del, NC_000001.10:g.151871974dup, NC_000001.10:g.151871973_151871974dup, NC_000001.10:g.151871972_151871974dup, NC_000001.10:g.151871971_151871974dup, NC_000001.10:g.151871970_151871974dup

Select item 149094500710.

rs1490945007 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:151910606 (GRCh38)
1:151883082 (GRCh37)
Canonical SPDI:: NC_000001.11:151910605:A:G
Gene:: THEM4 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000021/3 (GnomAD)
G=0.000023/6 (TOPMED)
HGVS:: NC_000001.11:g.151910606A>G, NC_000001.10:g.151883082A>G

Select item 149085841711.

rs1490858417 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:151879674 (GRCh38)
1:151852150 (GRCh37)
Canonical SPDI:: NC_000001.11:151879673:T:C
Gene:: THEM4 (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_000001.11:g.151879674T>C, NC_000001.10:g.151852150T>C

Select item 149078985912.

rs1490789859 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:151872622 (GRCh38)
1:151845098 (GRCh37)
Canonical SPDI:: NC_000001.11:151872621:T:G
Gene:: THEM4 (Varview)
Functional Consequence:: 3_prime_UTR_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_000001.11:g.151872622T>G, NC_000001.10:g.151845098T>G, NM_053055.5:c.*2266A>C, NM_053055.4:c.*2266A>C

Select item 149077763413.

rs1490777634 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:151899740 (GRCh38)
1:151872216 (GRCh37)
Canonical SPDI:: NC_000001.11:151899739:T:G
Gene:: THEM4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
G=0.000019/5 (TOPMED)
HGVS:: NC_000001.11:g.151899740T>G, NC_000001.10:g.151872216T>G

Select item 149076511014.

rs1490765110 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:151871361 (GRCh38)
1:151843837 (GRCh37)
Canonical SPDI:: NC_000001.11:151871360:G:A
Gene:: THEM4 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000001.11:g.151871361G>A, NC_000001.10:g.151843837G>A, NM_053055.5:c.*3527C>T, NM_053055.4:c.*3527C>T

Select item 149066502515.

rs1490665025 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:151903572 (GRCh38)
1:151876048 (GRCh37)
Canonical SPDI:: NC_000001.11:151903571:T:C
Gene:: THEM4 (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_000001.11:g.151903572T>C, NC_000001.10:g.151876048T>C

Select item 149058472716.

rs1490584727 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:151876685 (GRCh38)
1:151849161 (GRCh37)
Canonical SPDI:: NC_000001.11:151876684:G:C
Gene:: THEM4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.151876685G>C, NC_000001.10:g.151849161G>C

Select item 149056319417.

rs1490563194 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 1:151896154 (GRCh38)
1:151868630 (GRCh37)
Canonical SPDI:: NC_000001.11:151896153:C:A,NC_000001.11:151896153:C:T
Gene:: THEM4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000156/1 (1000Genomes)
HGVS:: NC_000001.11:g.151896154C>A, NC_000001.11:g.151896154C>T, NC_000001.10:g.151868630C>A, NC_000001.10:g.151868630C>T

Select item 149034162918.

rs1490341629 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:151878361 (GRCh38)
1:151850837 (GRCh37)
Canonical SPDI:: NC_000001.11:151878360:G:A
Gene:: THEM4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.151878361G>A, NC_000001.10:g.151850837G>A

Select item 149020580219.

rs1490205802 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:151881746 (GRCh38)
1:151854222 (GRCh37)
Canonical SPDI:: NC_000001.11:151881745:G:C
Gene:: THEM4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.151881746G>C, NC_000001.10:g.151854222G>C

Select item 149015259620.

rs1490152596 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:151911306 (GRCh38)
1:151883782 (GRCh37)
Canonical SPDI:: NC_000001.11:151911305:G:A
Gene:: THEM4 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
A=0.000546/1 (Korea1K)
A=0.001522/26 (TOMMO)
HGVS:: NC_000001.11:g.151911306G>A, NC_000001.10:g.151883782G>A

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