SNP Links for Gene (Select 343641) - SNP

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Select item 14915600621.

rs1491560062 has merged into rs10548828 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAAAAAA [Show Flanks]
Chromosome:: 20:2396192 (GRCh38)
20:2376838 (GRCh37)
Canonical SPDI:: NC_000020.11:2396180:AAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000020.11:2396180:AAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000020.11:2396180:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000020.11:2396180:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000020.11:2396180:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000020.11:2396180:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000020.11:2396180:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA
Gene:: TGM6 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: likely-benign,benign
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
-=0.0376/145 (ALSPAC)
A=0.15/6 (GENOME_DK)
HGVS:: NC_000020.11:g.2396192_2396195del, NC_000020.11:g.2396193_2396195del, NC_000020.11:g.2396194_2396195del, NC_000020.11:g.2396195del, NC_000020.11:g.2396195dup, NC_000020.11:g.2396194_2396195dup, NC_000020.11:g.2396189_2396195dup, NC_000020.10:g.2376838_2376841del, NC_000020.10:g.2376839_2376841del, NC_000020.10:g.2376840_2376841del, NC_000020.10:g.2376841del, NC_000020.10:g.2376841dup, NC_000020.10:g.2376840_2376841dup, NC_000020.10:g.2376835_2376841dup, NG_031917.1:g.20285_20288del, NG_031917.1:g.20286_20288del, NG_031917.1:g.20287_20288del, NG_031917.1:g.20288del, NG_031917.1:g.20288dup, NG_031917.1:g.20287_20288dup, NG_031917.1:g.20282_20288dup

Select item 14912071542.

rs1491207154 [Homo sapiens]

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

Select item 14911422243.

rs1491142224 has merged into rs35843804 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 20:2384118 (GRCh38)
20:2364764 (GRCh37)
Canonical SPDI:: NC_000020.11:2384106:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000020.11:2384106:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000020.11:2384106:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000020.11:2384106:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000020.11:2384106:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000020.11:2384106:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000020.11:2384106:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000020.11:2384106:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000020.11:2384106:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000020.11:2384106:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:2384106:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:2384106:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:2384106:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: TGM6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.2384118_2384127del, NC_000020.11:g.2384120_2384127del, NC_000020.11:g.2384121_2384127del, NC_000020.11:g.2384122_2384127del, NC_000020.11:g.2384123_2384127del, NC_000020.11:g.2384124_2384127del, NC_000020.11:g.2384125_2384127del, NC_000020.11:g.2384126_2384127del, NC_000020.11:g.2384127del, NC_000020.11:g.2384127dup, NC_000020.11:g.2384126_2384127dup, NC_000020.11:g.2384125_2384127dup, NC_000020.11:g.2384124_2384127dup, NC_000020.10:g.2364764_2364773del, NC_000020.10:g.2364766_2364773del, NC_000020.10:g.2364767_2364773del, NC_000020.10:g.2364768_2364773del, NC_000020.10:g.2364769_2364773del, NC_000020.10:g.2364770_2364773del, NC_000020.10:g.2364771_2364773del, NC_000020.10:g.2364772_2364773del, NC_000020.10:g.2364773del, NC_000020.10:g.2364773dup, NC_000020.10:g.2364772_2364773dup, NC_000020.10:g.2364771_2364773dup, NC_000020.10:g.2364770_2364773dup, NG_031917.1:g.8211_8220del, NG_031917.1:g.8213_8220del, NG_031917.1:g.8214_8220del, NG_031917.1:g.8215_8220del, NG_031917.1:g.8216_8220del, NG_031917.1:g.8217_8220del, NG_031917.1:g.8218_8220del, NG_031917.1:g.8219_8220del, NG_031917.1:g.8220del, NG_031917.1:g.8220dup, NG_031917.1:g.8219_8220dup, NG_031917.1:g.8218_8220dup, NG_031917.1:g.8217_8220dup

Select item 14908978424.

rs1490897842 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:2419313 (GRCh38)
20:2399959 (GRCh37)
Canonical SPDI:: NC_000020.11:2419312:T:C
Gene:: TGM6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.2419313T>C, NC_000020.10:g.2399959T>C, NG_031917.1:g.43406T>C

Select item 14908174855.

rs1490817485 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:2391118 (GRCh38)
20:2371764 (GRCh37)
Canonical SPDI:: NC_000020.11:2391117:A:G
Gene:: TGM6 (Varview)
Functional Consequence:: intron_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_000020.11:g.2391118A>G, NC_000020.10:g.2371764A>G, NG_031917.1:g.15211A>G

Select item 14908122776.

rs1490812277 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:2381806 (GRCh38)
20:2362452 (GRCh37)
Canonical SPDI:: NC_000020.11:2381805:T:C
Gene:: TGM6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000021/3 (GnomAD)
C=0.000083/22 (TOPMED)
HGVS:: NC_000020.11:g.2381806T>C, NC_000020.10:g.2362452T>C, NG_031917.1:g.5899T>C

Select item 14907683707.

rs1490768370 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:2404006 (GRCh38)
20:2384652 (GRCh37)
Canonical SPDI:: NC_000020.11:2404005:C:T
Gene:: TGM6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000029/4 (GnomAD)
T=0.00003/8 (TOPMED)
HGVS:: NC_000020.11:g.2404006C>T, NC_000020.10:g.2384652C>T, NG_031917.1:g.28099C>T

Select item 14906144768.

rs1490614476 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:2426657 (GRCh38)
20:2407303 (GRCh37)
Canonical SPDI:: NC_000020.11:2426656:T:C
Gene:: TGM6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.2426657T>C, NC_000020.10:g.2407303T>C, NG_031917.1:g.50750T>C

Select item 14905761319.

rs1490576131 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:2383482 (GRCh38)
20:2364128 (GRCh37)
Canonical SPDI:: NC_000020.11:2383481:G:A
Gene:: TGM6 (Varview)
Functional Consequence:: 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_000020.11:g.2383482G>A, NC_000020.10:g.2364128G>A, NG_031917.1:g.7575G>A

Select item 149056307110.

rs1490563071 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:2396784 (GRCh38)
20:2377430 (GRCh37)
Canonical SPDI:: NC_000020.11:2396783:C:T
Gene:: TGM6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.2396784C>T, NC_000020.10:g.2377430C>T, NG_031917.1:g.20877C>T

Select item 149046774111.

rs1490467741 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:2382409 (GRCh38)
20:2363055 (GRCh37)
Canonical SPDI:: NC_000020.11:2382408:C:T
Gene:: TGM6 (Varview)
Functional Consequence:: 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_000020.11:g.2382409C>T, NC_000020.10:g.2363055C>T, NG_031917.1:g.6502C>T

Select item 149041639112.

rs1490416391 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:2404618 (GRCh38)
20:2385264 (GRCh37)
Canonical SPDI:: NC_000020.11:2404617:C:T
Gene:: TGM6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000020.11:g.2404618C>T, NC_000020.10:g.2385264C>T, NG_031917.1:g.28711C>T

Select item 149025366513.

rs1490253665 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TGGATTATC [Show Flanks]
Chromosome:: 20:2427256 (GRCh38)
20:2407903 (GRCh37)
Canonical SPDI:: NC_000020.11:2427256:TTATCTGGATTATC:TTATCTGGATTATCTGGATTATC
Gene:: TGM6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TTATCTGGATTATCTGGATTATC=0./0 (ALFA)
HGVS:: NC_000020.11:g.2427262_2427270dup, NC_000020.10:g.2407908_2407916dup, NG_031917.1:g.51355_51363dup

Select item 149022614014.

rs1490226140 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:2383056 (GRCh38)
20:2363702 (GRCh37)
Canonical SPDI:: NC_000020.11:2383055:G:A
Gene:: TGM6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: A=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.2383056G>A, NC_000020.10:g.2363702G>A, NG_031917.1:g.7149G>A

Select item 149010542115.

rs1490105421 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 20:2428761 (GRCh38)
20:2409407 (GRCh37)
Canonical SPDI:: NC_000020.11:2428760:G:C
Gene:: TGM6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000020.11:g.2428761G>C, NC_000020.10:g.2409407G>C, NG_031917.1:g.52854G>C

Select item 149008868316.

rs1490088683 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 20:2383000 (GRCh38)
20:2363646 (GRCh37)
Canonical SPDI:: NC_000020.11:2382999:G:T
Gene:: TGM6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
T=0.000312/2 (1000Genomes)
HGVS:: NC_000020.11:g.2383000G>T, NC_000020.10:g.2363646G>T, NG_031917.1:g.7093G>T

Select item 149006554517.

rs1490065545 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 20:2396391 (GRCh38)
20:2377037 (GRCh37)
Canonical SPDI:: NC_000020.11:2396390:CC:C
Gene:: TGM6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CC=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000011/3 (TOPMED)
HGVS:: NC_000020.11:g.2396392del, NC_000020.10:g.2377038del, NG_031917.1:g.20485del

Select item 148999731518.

rs1489997315 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:2400313 (GRCh38)
20:2380959 (GRCh37)
Canonical SPDI:: NC_000020.11:2400312:G:A
Gene:: TGM6 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0.000051/1 (ALFA)
A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000020.11:g.2400313G>A, NC_000020.10:g.2380959G>A, NG_031917.1:g.24406G>A, NM_198994.3:c.858G>A, NM_198994.2:c.858G>A, NM_001254734.2:c.858G>A, NM_001254734.1:c.858G>A

Select item 148998137919.

rs1489981379 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:2381954 (GRCh38)
20:2362600 (GRCh37)
Canonical SPDI:: NC_000020.11:2381953:A:G
Gene:: TGM6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.2381954A>G, NC_000020.10:g.2362600A>G, NG_031917.1:g.6047A>G

Select item 148991731020.

rs1489917310 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 20:2418528 (GRCh38)
20:2399174 (GRCh37)
Canonical SPDI:: NC_000020.11:2418527:C:A
Gene:: TGM6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000389/7 (TOMMO)
A=0.000684/2 (KOREAN)
A=0.001638/3 (Korea1K)
HGVS:: NC_000020.11:g.2418528C>A, NC_000020.10:g.2399174C>A, NG_031917.1:g.42621C>A

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