SNP Links for Gene (Select 56900) - SNP

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Select item 14908668091.

rs1490866809 [Homo sapiens]

Variant type:: DEL
Alleles:: GGTTTGTTA>- [Show Flanks]
Chromosome:: 1:109092225 (GRCh38)
1:109634847 (GRCh37)
Canonical SPDI:: NC_000001.11:109092224:GGTTTGTTA:
Gene:: TMEM167B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000019/5 (TOPMED)
-=0.000029/4 (GnomAD)
HGVS:: NC_000001.11:g.109092225_109092233del, NC_000001.10:g.109634847_109634855del

Select item 14902818212.

rs1490281821 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:109090187 (GRCh38)
1:109632809 (GRCh37)
Canonical SPDI:: NC_000001.11:109090186:C:T
Gene:: TMEM167B (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.109090187C>T, NC_000001.10:g.109632809C>T

Select item 14901034183.

rs1490103418 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:109091031 (GRCh38)
1:109633653 (GRCh37)
Canonical SPDI:: NC_000001.11:109091030:A:G
Gene:: TMEM167B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000008/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.109091031A>G, NC_000001.10:g.109633653A>G

Select item 14890927134.

rs1489092713 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 1:109092611 (GRCh38)
1:109635233 (GRCh37)
Canonical SPDI:: NC_000001.11:109092610:G:A,NC_000001.11:109092610:G:T
Gene:: TMEM167B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.109092611G>A, NC_000001.11:g.109092611G>T, NC_000001.10:g.109635233G>A, NC_000001.10:g.109635233G>T, NG_000954.5:g.530C>T, NG_000954.5:g.530C>A

Select item 14889926455.

rs1488992645 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 1:109093526 (GRCh38)
1:109636148 (GRCh37)
Canonical SPDI:: NC_000001.11:109093525:C:A,NC_000001.11:109093525:C:T
Gene:: TMEM167B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.109093526C>A, NC_000001.11:g.109093526C>T, NC_000001.10:g.109636148C>A, NC_000001.10:g.109636148C>T

Select item 14889601576.

rs1488960157 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:109094604 (GRCh38)
1:109637226 (GRCh37)
Canonical SPDI:: NC_000001.11:109094603:C:T
Gene:: TMEM167B (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.109094604C>T, NC_000001.10:g.109637226C>T, NM_020141.4:c.*105C>T, NM_020141.3:c.*105C>T, NR_136242.2:n.528C>T, NR_136242.1:n.551C>T, NM_001322248.2:c.*25C>T, NM_001322248.1:c.*25C>T, NR_136243.2:n.307C>T, NR_136243.1:n.330C>T

Select item 14888812177.

rs1488881217 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:109097410 (GRCh38)
1:109640032 (GRCh37)
Canonical SPDI:: NC_000001.11:109097409:C:T
Gene:: TMEM167B (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.109097410C>T, NC_000001.10:g.109640032C>T

Select item 14886721408.

rs1488672140 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:109093142 (GRCh38)
1:109635764 (GRCh37)
Canonical SPDI:: NC_000001.11:109093141:G:A
Gene:: TMEM167B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000021/3 (GnomAD)
A=0.000546/1 (Korea1K)
HGVS:: NC_000001.11:g.109093142G>A, NC_000001.10:g.109635764G>A

Select item 14881452569.

rs1488145256 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:109092715 (GRCh38)
1:109635337 (GRCh37)
Canonical SPDI:: NC_000001.11:109092714:A:G
Gene:: TMEM167B (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_000001.11:g.109092715A>G, NC_000001.10:g.109635337A>G, NG_000954.5:g.426T>C

Select item 148713934410.

rs1487139344 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:109091792 (GRCh38)
1:109634414 (GRCh37)
Canonical SPDI:: NC_000001.11:109091791:G:A
Gene:: TMEM167B (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_000001.11:g.109091792G>A, NC_000001.10:g.109634414G>A

Select item 148695133711.

rs1486951337 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 1:109096927 (GRCh38)
1:109639550 (GRCh37)
Canonical SPDI:: NC_000001.11:109096927:CCC:CCCC
Gene:: TMEM167B (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCC=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.109096930dup, NC_000001.10:g.109639552dup, NM_020141.4:c.*2431dup, NM_020141.3:c.*2431dup, NR_136242.2:n.2854dup, NR_136242.1:n.2877dup, NM_001322248.2:c.*2351dup, NM_001322248.1:c.*2351dup, NR_136243.2:n.2633dup, NR_136243.1:n.2656dup

Select item 148651313512.

rs1486513135 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:109093339 (GRCh38)
1:109635961 (GRCh37)
Canonical SPDI:: NC_000001.11:109093338:A:C
Gene:: TMEM167B (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000001.11:g.109093339A>C, NC_000001.10:g.109635961A>C

Select item 148634969613.

rs1486349696 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:109088883 (GRCh38)
1:109631505 (GRCh37)
Canonical SPDI:: NC_000001.11:109088882:T:G
Gene:: TMEM167B (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.109088883T>G, NC_000001.10:g.109631505T>G

Select item 148593107614.

rs1485931076 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:109095195 (GRCh38)
1:109637817 (GRCh37)
Canonical SPDI:: NC_000001.11:109095194:A:C
Gene:: TMEM167B (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.00003/8 (TOPMED)
C=0.000212/4 (TOMMO)
C=0.000546/1 (Korea1K)
C=0.001027/3 (KOREAN)
HGVS:: NC_000001.11:g.109095195A>C, NC_000001.10:g.109637817A>C, NM_020141.4:c.*696A>C, NM_020141.3:c.*696A>C, NR_136242.2:n.1119A>C, NR_136242.1:n.1142A>C, NM_001322248.2:c.*616A>C, NM_001322248.1:c.*616A>C, NR_136243.2:n.898A>C, NR_136243.1:n.921A>C

Select item 148536273915.

rs1485362739 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:109095163 (GRCh38)
1:109637785 (GRCh37)
Canonical SPDI:: NC_000001.11:109095162:G:C
Gene:: TMEM167B (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0./0 (KOREAN)
C=0.000023/6 (TOPMED)
HGVS:: NC_000001.11:g.109095163G>C, NC_000001.10:g.109637785G>C, NM_020141.4:c.*664G>C, NM_020141.3:c.*664G>C, NR_136242.2:n.1087G>C, NR_136242.1:n.1110G>C, NM_001322248.2:c.*584G>C, NM_001322248.1:c.*584G>C, NR_136243.2:n.866G>C, NR_136243.1:n.889G>C

Select item 148514894716.

rs1485148947 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 1:109090100 (GRCh38)
1:109632722 (GRCh37)
Canonical SPDI:: NC_000001.11:109090099:G:A,NC_000001.11:109090099:G:T
Gene:: TMEM167B (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.109090100G>A, NC_000001.11:g.109090100G>T, NC_000001.10:g.109632722G>A, NC_000001.10:g.109632722G>T

Select item 148495144817.

rs1484951448 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:109094028 (GRCh38)
1:109636650 (GRCh37)
Canonical SPDI:: NC_000001.11:109094027:C:T
Gene:: TMEM167B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.000224/1 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.109094028C>T, NC_000001.10:g.109636650C>T

Select item 148487956718.

rs1484879567 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 1:109096851 (GRCh38)
1:109639473 (GRCh37)
Canonical SPDI:: NC_000001.11:109096850:C:A,NC_000001.11:109096850:C:G
Gene:: TMEM167B (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.109096851C>A, NC_000001.11:g.109096851C>G, NC_000001.10:g.109639473C>A, NC_000001.10:g.109639473C>G, NM_020141.4:c.*2352C>A, NM_020141.4:c.*2352C>G, NM_020141.3:c.*2352C>A, NM_020141.3:c.*2352C>G, NR_136242.2:n.2775C>A, NR_136242.2:n.2775C>G, NR_136242.1:n.2798C>A, NR_136242.1:n.2798C>G, NM_001322248.2:c.*2272C>A, NM_001322248.2:c.*2272C>G, NM_001322248.1:c.*2272C>A, NM_001322248.1:c.*2272C>G, NR_136243.2:n.2554C>A, NR_136243.2:n.2554C>G, NR_136243.1:n.2577C>A, NR_136243.1:n.2577C>G

Select item 148487683919.

rs1484876839 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:109093643 (GRCh38)
1:109636265 (GRCh37)
Canonical SPDI:: NC_000001.11:109093642:A:G
Gene:: TMEM167B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000319/5 (TOMMO)
G=0.000684/2 (KOREAN)
HGVS:: NC_000001.11:g.109093643A>G, NC_000001.10:g.109636265A>G

Select item 148477047520.

rs1484770475 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 1:109093236 (GRCh38)
1:109635858 (GRCh37)
Canonical SPDI:: NC_000001.11:109093235:AA:A
Gene:: TMEM167B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0.000071/1 (ALFA)
-=0.000021/3 (GnomAD)
-=0.000038/10 (TOPMED)
HGVS:: NC_000001.11:g.109093237del, NC_000001.10:g.109635859del

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