SNP Links for Gene (Select 51298) - SNP

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Select item 14913506121.

rs1491350612 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 19:364336 (GRCh38)
19:364336 (GRCh37)
Canonical SPDI:: NC_000019.10:364335:CA:
Gene:: THEG (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.02285/271 (ALFA)
-=0.00063/31 (GnomAD)
-=0.00098/25 (TOMMO)
HGVS:: NC_000019.10:g.364336_364337del, NC_000019.9:g.364336_364337del

Select item 14912484292.

rs1491248429 has merged into rs1201623079 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAAAA>-,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 19:364339 (GRCh38)
19:364339 (GRCh37)
Canonical SPDI:: NC_000019.10:364336:AAAAAAAAAAAAAAAAAAAA:AA,NC_000019.10:364336:AAAAAAAAAAAAAAAAAAAA:AAAAAAA,NC_000019.10:364336:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000019.10:364336:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000019.10:364336:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000019.10:364336:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000019.10:364336:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000019.10:364336:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000019.10:364336:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000019.10:364336:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000019.10:364336:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000019.10:364336:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000019.10:364336:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000019.10:364336:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000019.10:364336:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:364336:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:364336:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:364336:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:364336:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:364336:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:364336:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:364336:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:364336:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:364336:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:364336:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: THEG (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
HGVS:: NC_000019.10:g.364339_364356del, NC_000019.10:g.364344_364356del, NC_000019.10:g.364346_364356del, NC_000019.10:g.364347_364356del, NC_000019.10:g.364348_364356del, NC_000019.10:g.364349_364356del, NC_000019.10:g.364350_364356del, NC_000019.10:g.364351_364356del, NC_000019.10:g.364352_364356del, NC_000019.10:g.364353_364356del, NC_000019.10:g.364354_364356del, NC_000019.10:g.364355_364356del, NC_000019.10:g.364356del, NC_000019.10:g.364356dup, NC_000019.10:g.364355_364356dup, NC_000019.10:g.364354_364356dup, NC_000019.10:g.364353_364356dup, NC_000019.10:g.364352_364356dup, NC_000019.10:g.364351_364356dup, NC_000019.10:g.364350_364356dup, NC_000019.10:g.364349_364356dup, NC_000019.10:g.364345_364356dup, NC_000019.10:g.364344_364356dup, NC_000019.10:g.364343_364356dup, NC_000019.10:g.364342_364356dup, NC_000019.9:g.364339_364356del, NC_000019.9:g.364344_364356del, NC_000019.9:g.364346_364356del, NC_000019.9:g.364347_364356del, NC_000019.9:g.364348_364356del, NC_000019.9:g.364349_364356del, NC_000019.9:g.364350_364356del, NC_000019.9:g.364351_364356del, NC_000019.9:g.364352_364356del, NC_000019.9:g.364353_364356del, NC_000019.9:g.364354_364356del, NC_000019.9:g.364355_364356del, NC_000019.9:g.364356del, NC_000019.9:g.364356dup, NC_000019.9:g.364355_364356dup, NC_000019.9:g.364354_364356dup, NC_000019.9:g.364353_364356dup, NC_000019.9:g.364352_364356dup, NC_000019.9:g.364351_364356dup, NC_000019.9:g.364350_364356dup, NC_000019.9:g.364349_364356dup, NC_000019.9:g.364345_364356dup, NC_000019.9:g.364344_364356dup, NC_000019.9:g.364343_364356dup, NC_000019.9:g.364342_364356dup

Select item 14912053123.

rs1491205312 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 19:364557 (GRCh38)
19:364557 (GRCh37)
Canonical SPDI:: NC_000019.10:364556:AG:
Gene:: THEG (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000071/1 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000546/1 (Korea1K)
HGVS:: NC_000019.10:g.364557_364558del, NC_000019.9:g.364557_364558del

Select item 14911060734.

rs1491106073 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 19:364557 (GRCh38)
19:364558 (GRCh37)
Canonical SPDI:: NC_000019.10:364557:GGGGG:GGGGGG
Gene:: THEG (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: GGGGGG=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.364562dup, NC_000019.9:g.364562dup

Select item 14910524035.

rs1491052403 [Homo sapiens]

Variant type:: INS
Alleles:: ->T,TGTGTGTGTT [Show Flanks]
Chromosome:: 19:371368 (GRCh38)
19:371369 (GRCh37)
Canonical SPDI:: NC_000019.10:371368::T,NC_000019.10:371368::TGTGTGTGTT
Gene:: THEG (Varview)
Functional Consequence:: genic_downstream_transcript_variant,downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGTT=0./0 (ALFA)
T=0.000072/9 (GnomAD)
HGVS:: NC_000019.10:g.371368_371369insT, NC_000019.10:g.371368_371369insTGTGTGTGTT, NC_000019.9:g.371368_371369insT, NC_000019.9:g.371368_371369insTGTGTGTGTT

Select item 14908888236.

rs1490888823 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:369011 (GRCh38)
19:369011 (GRCh37)
Canonical SPDI:: NC_000019.10:369010:T:C
Gene:: THEG (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000019.10:g.369011T>C, NC_000019.9:g.369011T>C

Select item 14906797707.

rs1490679770 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:361741 (GRCh38)
19:361741 (GRCh37)
Canonical SPDI:: NC_000019.10:361740:C:T
Gene:: THEG (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00624/74 (ALFA)
C=0.25/1 (SGDP_PRJ)
HGVS:: NC_000019.10:g.361741C>T, NC_000019.9:g.361741C>T

Select item 14905342628.

rs1490534262 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:373809 (GRCh38)
19:373809 (GRCh37)
Canonical SPDI:: NC_000019.10:373808:G:A
Gene:: THEG (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000034/9 (TOPMED)
HGVS:: NC_000019.10:g.373809G>A, NC_000019.9:g.373809G>A

Select item 14904038769.

rs1490403876 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:373366 (GRCh38)
19:373366 (GRCh37)
Canonical SPDI:: NC_000019.10:373365:G:A
Gene:: THEG (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.373366G>A, NC_000019.9:g.373366G>A

Select item 149030766810.

rs1490307668 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:374550 (GRCh38)
19:374550 (GRCh37)
Canonical SPDI:: NC_000019.10:374549:C:T
Gene:: THEG (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000019.10:g.374550C>T, NC_000019.9:g.374550C>T

Select item 148983422411.

rs1489834224 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:375801 (GRCh38)
19:375801 (GRCh37)
Canonical SPDI:: NC_000019.10:375800:G:A
Gene:: THEG (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000019.10:g.375801G>A, NC_000019.9:g.375801G>A, NM_016585.5:c.170C>T, NM_016585.4:c.170C>T, XM_011528049.3:c.170C>T, XM_011528049.2:c.278C>T, XM_011528049.1:c.278C>T, XM_011528050.3:c.170C>T, XM_011528050.2:c.278C>T, XM_011528050.1:c.278C>T, NM_199202.3:c.170C>T, NM_199202.2:c.170C>T, XM_011528051.3:c.170C>T, XM_011528051.2:c.278C>T, XM_011528051.1:c.278C>T, XM_011528052.3:c.170C>T, XM_011528052.2:c.278C>T, XM_011528052.1:c.278C>T, XM_024451532.2:c.170C>T, XM_024451532.1:c.278C>T, XM_024451533.2:c.170C>T, XM_024451533.1:c.278C>T, NP_057669.1:p.Pro57Leu, XP_011526351.2:p.Pro57Leu, XP_011526352.2:p.Pro57Leu, NP_954672.1:p.Pro57Leu, XP_011526353.2:p.Pro57Leu, XP_011526354.2:p.Pro57Leu, XP_024307300.2:p.Pro57Leu, XP_024307301.2:p.Pro57Leu

Select item 148980526412.

rs1489805264 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:375432 (GRCh38)
19:375432 (GRCh37)
Canonical SPDI:: NC_000019.10:375431:G:C
Gene:: THEG (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000019.10:g.375432G>C, NC_000019.9:g.375432G>C

Select item 148964344913.

rs1489643449 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:362488 (GRCh38)
19:362488 (GRCh37)
Canonical SPDI:: NC_000019.10:362487:C:T
Gene:: THEG (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.362488C>T, NC_000019.9:g.362488C>T

Select item 148942094114.

rs1489420941 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 19:377081 (GRCh38)
19:377082 (GRCh37)
Canonical SPDI:: NC_000019.10:377081::G
Gene:: THEG (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000019.10:g.377081_377082insG, NC_000019.9:g.377081_377082insG

Select item 148933439815.

rs1489334398 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 19:368147 (GRCh38)
19:368147 (GRCh37)
Canonical SPDI:: NC_000019.10:368146:G:A,NC_000019.10:368146:G:T
Gene:: THEG (Varview)
Functional Consequence:: genic_downstream_transcript_variant,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_000019.10:g.368147G>A, NC_000019.10:g.368147G>T, NC_000019.9:g.368147G>A, NC_000019.9:g.368147G>T

Select item 148930753316.

rs1489307533 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:377627 (GRCh38)
19:377627 (GRCh37)
Canonical SPDI:: NC_000019.10:377626:T:C
Gene:: THEG (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.03705/101 (KOREAN)
HGVS:: NC_000019.10:g.377627T>C, NC_000019.9:g.377627T>C

Select item 148928994817.

rs1489289948 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:362850 (GRCh38)
19:362850 (GRCh37)
Canonical SPDI:: NC_000019.10:362849:C:T
Gene:: THEG (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.362850C>T, NC_000019.9:g.362850C>T

Select item 148908639718.

rs1489086397 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:370231 (GRCh38)
19:370231 (GRCh37)
Canonical SPDI:: NC_000019.10:370230:A:G
Gene:: THEG (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000224/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000223/1 (Estonian)
HGVS:: NC_000019.10:g.370231A>G, NC_000019.9:g.370231A>G

Select item 148901430119.

rs1489014301 [Homo sapiens]

Variant type:: DEL
Alleles:: A>- [Show Flanks]
Chromosome:: 19:371527 (GRCh38)
19:371527 (GRCh37)
Canonical SPDI:: NC_000019.10:371526:A:
Gene:: THEG (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.371527del, NC_000019.9:g.371527del, XM_011528052.3:c.*637del, XM_011528052.2:c.*637del, XM_011528052.1:c.*637del

Select item 148893909620.

rs1488939096 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:365322 (GRCh38)
19:365322 (GRCh37)
Canonical SPDI:: NC_000019.10:365321:T:C
Gene:: THEG (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: C=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.365322T>C, NC_000019.9:g.365322T>C

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