SNP Links for Gene (Select 129787) - SNP

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Select item 14912945371.

rs1491294537 [Homo sapiens]

Variant type:: DEL
Alleles:: GT>- [Show Flanks]
Chromosome:: 2:678424 (GRCh38)
2:678424 (GRCh37)
Canonical SPDI:: NC_000002.12:678423:GT:
Gene:: TMEM18 (Varview), TMEM18-DT (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000084/1 (ALFA)
-=0.000072/1 (TOMMO)
-=0.000086/11 (GnomAD)
HGVS:: NC_000002.12:g.678424_678425del, NC_000002.11:g.678424_678425del

Select item 14909927992.

rs1490992799 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 2:668971 (GRCh38)
2:668972 (GRCh37)
Canonical SPDI:: NC_000002.12:668971:CCCC:CCCCC
Gene:: TMEM18 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCC=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.668975dup, NC_000002.11:g.668975dup, NM_152834.4:c.*608dup, NM_152834.3:c.*608dup, NM_152834.2:c.*608dup, NM_001352680.2:c.*608dup, NM_001352680.1:c.*608dup, NM_001352681.1:c.*608dup

Select item 14909668483.

rs1490966848 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:665230 (GRCh38)
2:665230 (GRCh37)
Canonical SPDI:: NC_000002.12:665229:A:G
Gene:: TMEM18 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000019/5 (TOPMED)
G=0.000029/4 (GnomAD)
HGVS:: NC_000002.12:g.665230A>G, NC_000002.11:g.665230A>G, NM_152834.4:c.*4350T>C, NM_152834.3:c.*4350T>C, NM_001352680.2:c.*4350T>C, NM_001352680.1:c.*4350T>C, NM_001352681.1:c.*4350T>C

Select item 14902983094.

rs1490298309 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:675273 (GRCh38)
2:675273 (GRCh37)
Canonical SPDI:: NC_000002.12:675272:G:A
Gene:: TMEM18 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.675273G>A, NC_000002.11:g.675273G>A

Select item 14902336725.

rs1490233672 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 2:679246 (GRCh38)
2:679246 (GRCh37)
Canonical SPDI:: NC_000002.12:679245:C:A,NC_000002.12:679245:C:T
Gene:: TMEM18 (Varview), TMEM18-DT (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000108/2 (ALFA)
T=0.000034/9 (TOPMED)
T=0.000043/6 (GnomAD)
A=0.000223/1 (Estonian)
HGVS:: NC_000002.12:g.679246C>A, NC_000002.12:g.679246C>T, NC_000002.11:g.679246C>A, NC_000002.11:g.679246C>T

Select item 14900538616.

rs1490053861 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:665043 (GRCh38)
2:665043 (GRCh37)
Canonical SPDI:: NC_000002.12:665042:A:G
Gene:: TMEM18 (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=0.000021/3 (GnomAD)
HGVS:: NC_000002.12:g.665043A>G, NC_000002.11:g.665043A>G, NM_152834.4:c.*4537T>C, NM_152834.3:c.*4537T>C, NM_001352680.2:c.*4537T>C, NM_001352680.1:c.*4537T>C, NM_001352681.1:c.*4537T>C

Select item 14897419037.

rs1489741903 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 2:667872 (GRCh38)
2:667872 (GRCh37)
Canonical SPDI:: NC_000002.12:667871:C:A
Gene:: TMEM18 (Varview)
Functional Consequence:: 3_prime_UTR_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_000002.12:g.667872C>A, NC_000002.11:g.667872C>A, NM_152834.4:c.*1708G>T, NM_152834.3:c.*1708G>T, NM_001352680.2:c.*1708G>T, NM_001352680.1:c.*1708G>T, NM_001352681.1:c.*1708G>T

Select item 14895011028.

rs1489501102 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:664437 (GRCh38)
2:664437 (GRCh37)
Canonical SPDI:: NC_000002.12:664436:T:C
Gene:: TMEM18 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000002.12:g.664437T>C, NC_000002.11:g.664437T>C, NM_152834.4:c.*5143A>G, NM_152834.3:c.*5143A>G, NM_001352680.2:c.*5143A>G, NM_001352680.1:c.*5143A>G, NM_001352681.1:c.*5143A>G

Select item 14893347969.

rs1489334796 [Homo sapiens]

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

Select item 148925878010.

rs1489258780 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:667566 (GRCh38)
2:667566 (GRCh37)
Canonical SPDI:: NC_000002.12:667565:C:T
Gene:: TMEM18 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.667566C>T, NC_000002.11:g.667566C>T, NM_152834.4:c.*2014G>A, NM_152834.3:c.*2014G>A, NM_001352680.2:c.*2014G>A, NM_001352680.1:c.*2014G>A, NM_001352681.1:c.*2014G>A

Select item 148902503211.

rs1489025032 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 2:663931 (GRCh38)
2:663931 (GRCh37)
Canonical SPDI:: NC_000002.12:663930:T:C,NC_000002.12:663930:T:G
Gene:: TMEM18 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
G=0.000023/6 (TOPMED)
HGVS:: NC_000002.12:g.663931T>C, NC_000002.12:g.663931T>G, NC_000002.11:g.663931T>C, NC_000002.11:g.663931T>G, NM_152834.4:c.*5649A>G, NM_152834.4:c.*5649A>C, NM_152834.3:c.*5649A>G, NM_152834.3:c.*5649A>C, NM_001352680.2:c.*5649A>G, NM_001352680.2:c.*5649A>C, NM_001352680.1:c.*5649A>G, NM_001352680.1:c.*5649A>C, NM_001352681.1:c.*5649A>G, NM_001352681.1:c.*5649A>C

Select item 148892067612.

rs1488920676 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:669802 (GRCh38)
2:669802 (GRCh37)
Canonical SPDI:: NC_000002.12:669801:A:G
Gene:: TMEM18 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0.000111/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.669802A>G, NC_000002.11:g.669802A>G, NM_152834.4:c.282T>C, NM_152834.3:c.282T>C, NM_152834.2:c.282T>C, NM_001352680.2:c.243T>C, NM_001352680.1:c.243T>C, NM_001352681.1:c.291T>C

Select item 148854118213.

rs1488541182 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 2:675852 (GRCh38)
2:675852 (GRCh37)
Canonical SPDI:: NC_000002.12:675851:T:A,NC_000002.12:675851:T:C
Gene:: TMEM18 (Varview), TMEM18-DT (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.675852T>A, NC_000002.12:g.675852T>C, NC_000002.11:g.675852T>A, NC_000002.11:g.675852T>C, NM_001352680.2:c.-77A>T, NM_001352680.2:c.-77A>G, NM_001352680.1:c.-77A>T, NM_001352680.1:c.-77A>G

Select item 148851066514.

rs1488510665 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:674806 (GRCh38)
2:674806 (GRCh37)
Canonical SPDI:: NC_000002.12:674805:G:A
Gene:: TMEM18 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.674806G>A, NC_000002.11:g.674806G>A

Select item 148825460615.

rs1488254606 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 2:666999 (GRCh38)
2:666999 (GRCh37)
Canonical SPDI:: NC_000002.12:666998:A:T
Gene:: TMEM18 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.666999A>T, NC_000002.11:g.666999A>T, NM_152834.4:c.*2581T>A, NM_152834.3:c.*2581T>A, NM_001352680.2:c.*2581T>A, NM_001352680.1:c.*2581T>A, NM_001352681.1:c.*2581T>A

Select item 148820502916.

rs1488205029 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 2:673578 (GRCh38)
2:673578 (GRCh37)
Canonical SPDI:: NC_000002.12:673577:T:C,NC_000002.12:673577:T:G
Gene:: TMEM18 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.673578T>C, NC_000002.12:g.673578T>G, NC_000002.11:g.673578T>C, NC_000002.11:g.673578T>G

Select item 148813283817.

rs1488132838 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:670595 (GRCh38)
2:670595 (GRCh37)
Canonical SPDI:: NC_000002.12:670594:G:A
Gene:: TMEM18 (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)
HGVS:: NC_000002.12:g.670595G>A, NC_000002.11:g.670595G>A

Select item 148799857418.

rs1487998574 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 2:669869 (GRCh38)
2:669869 (GRCh37)
Canonical SPDI:: NC_000002.12:669868:C:A
Gene:: TMEM18 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.0003/3 (ALFA)
HGVS:: NC_000002.12:g.669869C>A, NC_000002.11:g.669869C>A

Select item 148796849019.

rs1487968490 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:669942 (GRCh38)
2:669942 (GRCh37)
Canonical SPDI:: NC_000002.12:669941:T:C
Gene:: TMEM18 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.669942T>C, NC_000002.11:g.669942T>C

Select item 148752524120.

rs1487525241 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 2:674384 (GRCh38)
2:674384 (GRCh37)
Canonical SPDI:: NC_000002.12:674383:CCCC:CCC
Gene:: TMEM18 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.674387del, NC_000002.11:g.674387del

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