SNP Links for Nucleotide (Select 1208914981) - SNP

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Links from Nucleotide

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Select item 14909927991.

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 14909668482.

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 14900538613.

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 14897419034.

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 14895011025.

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 14893347966.

rs1489334796 [Homo sapiens]

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

Select item 14892587807.

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 14890250328.

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 14889206769.

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 148825460610.

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 148671678011.

rs1486716780 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 2:665824 (GRCh38)
2:665824 (GRCh37)
Canonical SPDI:: NC_000002.12:665823:A:C
Gene:: TMEM18 (Varview)
Functional Consequence:: 3_prime_UTR_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_000002.12:g.665824A>C, NC_000002.11:g.665824A>C, NM_152834.4:c.*3756T>G, NM_152834.3:c.*3756T>G, NM_001352680.2:c.*3756T>G, NM_001352680.1:c.*3756T>G, NM_001352681.1:c.*3756T>G

Select item 148660283112.

rs1486602831 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:665160 (GRCh38)
2:665160 (GRCh37)
Canonical SPDI:: NC_000002.12:665159:G:A
Gene:: TMEM18 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000106/3 (TOMMO)
HGVS:: NC_000002.12:g.665160G>A, NC_000002.11:g.665160G>A, NM_152834.4:c.*4420C>T, NM_152834.3:c.*4420C>T, NM_001352680.2:c.*4420C>T, NM_001352680.1:c.*4420C>T, NM_001352681.1:c.*4420C>T

Select item 148525133613.

rs1485251336 [Homo sapiens]

Variant type:: INS
Alleles:: ->T [Show Flanks]
Chromosome:: 2:665286 (GRCh38)
2:665287 (GRCh37)
Canonical SPDI:: NC_000002.12:665286::T
Gene:: TMEM18 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000002.12:g.665286_665287insT, NC_000002.11:g.665286_665287insT, NM_152834.4:c.*4293_*4294insA, NM_152834.3:c.*4293_*4294insA, NM_001352680.2:c.*4293_*4294insA, NM_001352680.1:c.*4293_*4294insA, NM_001352681.1:c.*4293_*4294insA

Select item 148521981114.

rs1485219811 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 2:664318 (GRCh38)
2:664318 (GRCh37)
Canonical SPDI:: NC_000002.12:664317:A:C
Gene:: TMEM18 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.664318A>C, NC_000002.11:g.664318A>C, NM_152834.4:c.*5262T>G, NM_152834.3:c.*5262T>G, NM_001352680.2:c.*5262T>G, NM_001352680.1:c.*5262T>G, NM_001352681.1:c.*5262T>G

Select item 148498251415.

rs1484982514 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:666308 (GRCh38)
2:666308 (GRCh37)
Canonical SPDI:: NC_000002.12:666307:G: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.666308G>A, NC_000002.11:g.666308G>A, NM_152834.4:c.*3272C>T, NM_152834.3:c.*3272C>T, NM_001352680.2:c.*3272C>T, NM_001352680.1:c.*3272C>T, NM_001352681.1:c.*3272C>T

Select item 148492987216.

rs1484929872 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTCA>- [Show Flanks]
Chromosome:: 2:665575 (GRCh38)
2:665575 (GRCh37)
Canonical SPDI:: NC_000002.12:665568:CACTCACTCA:CACTCA
Gene:: TMEM18 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CACTCA=0./0 (ALFA)
-=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.665571CTCA[1], NC_000002.11:g.665571CTCA[1], NM_152834.4:c.*4004AGTG[1], NM_152834.3:c.*4004AGTG[1], NM_001352680.2:c.*4004AGTG[1], NM_001352680.1:c.*4004AGTG[1], NM_001352681.1:c.*4004AGTG[1]

Select item 148470172517.

rs1484701725 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:669074 (GRCh38)
2:669074 (GRCh37)
Canonical SPDI:: NC_000002.12:669073:G:A
Gene:: TMEM18 (Varview)
Functional Consequence:: 3_prime_UTR_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.669074G>A, NC_000002.11:g.669074G>A, NM_152834.4:c.*506C>T, NM_152834.3:c.*506C>T, NM_152834.2:c.*506C>T, NM_001352680.2:c.*506C>T, NM_001352680.1:c.*506C>T, NM_001352681.1:c.*506C>T

Select item 148427068718.

rs1484270687 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:664886 (GRCh38)
2:664886 (GRCh37)
Canonical SPDI:: NC_000002.12:664885:T:C
Gene:: TMEM18 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000029/4 (GnomAD)
C=0.001132/19 (TOMMO)
C=0.002053/6 (KOREAN)
C=0.002183/4 (Korea1K)
HGVS:: NC_000002.12:g.664886T>C, NC_000002.11:g.664886T>C, NM_152834.4:c.*4694A>G, NM_152834.3:c.*4694A>G, NM_001352680.2:c.*4694A>G, NM_001352680.1:c.*4694A>G, NM_001352681.1:c.*4694A>G

Select item 148355007319.

rs1483550073 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:676613 (GRCh38)
2:676613 (GRCh37)
Canonical SPDI:: NC_000002.12:676612:T:C
Gene:: TMEM18 (Varview), TMEM18-DT (Varview)
Functional Consequence:: synonymous_variant,upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency
MAF:: C=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.676613T>C, NC_000002.11:g.676613T>C, NM_001352681.1:c.27A>G

Select item 148333631420.

rs1483336314 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:664199 (GRCh38)
2:664199 (GRCh37)
Canonical SPDI:: NC_000002.12:664198:T:C
Gene:: TMEM18 (Varview)
Functional Consequence:: 3_prime_UTR_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_000002.12:g.664199T>C, NC_000002.11:g.664199T>C, NM_152834.4:c.*5381A>G, NM_152834.3:c.*5381A>G, NM_001352680.2:c.*5381A>G, NM_001352680.1:c.*5381A>G, NM_001352681.1:c.*5381A>G

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