SNP Links for Nucleotide (Select 336176047) - SNP - NCBI

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Links from Nucleotide

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Select item 14904961121.

rs1490496112 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:58352466 (GRCh38)
17:56429827 (GRCh37)
Canonical SPDI:: NC_000017.11:58352465:G:T
Gene:: SUPT4H1 (Varview), RNF43 (Varview), TSPOAP1-AS1 (Varview)
Functional Consequence:: downstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant,500B_downstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000019/5 (TOPMED)
HGVS:: NC_000017.11:g.58352466G>T, NC_000017.10:g.56429827G>T, NG_042894.1:g.70117C>A, NR_038410.1:n.1222G>T, NR_038414.1:n.1190G>T, NR_038415.1:n.1126G>T, NR_038416.1:n.1117G>T, NR_038411.1:n.1017G>T, NR_038412.1:n.1008G>T, NR_038417.1:n.989G>T, NR_038418.1:n.980G>T, NR_038413.1:n.940G>T

Select item 14903889602.

rs1490388960 [Homo sapiens]

Variant type:: DELINS
Alleles:: CATAA>- [Show Flanks]
Chromosome:: 17:58353583 (GRCh38)
17:56430944 (GRCh37)
Canonical SPDI:: NC_000017.11:58353578:ATAACATAA:ATAA
Gene:: SUPT4H1 (Varview), RNF43 (Varview), TSPOAP1-AS1 (Varview)
Functional Consequence:: downstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,3_prime_UTR_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: ATAA=0./0 (ALFA)
-=0.000011/3 (TOPMED)
HGVS:: NC_000017.11:g.58353583_58353587del, NC_000017.10:g.56430944_56430948del, NG_042894.1:g.69000_69004del, NM_017763.5:c.*1360_*1364del, NM_001305544.2:c.*1360_*1364del, NM_001305544.1:c.*1360_*1364del, NM_001305545.1:c.*1360_*1364del, XM_047436331.1:c.*1360_*1364del, XM_047436332.1:c.*1360_*1364del, NR_038410.1:n.2339_2343del, NR_038414.1:n.2307_2311del, NR_038415.1:n.2243_2247del, NR_038416.1:n.2234_2238del, NR_038411.1:n.2134_2138del, NR_038412.1:n.2125_2129del, NR_038417.1:n.2106_2110del, NR_038418.1:n.2097_2101del, NR_038413.1:n.2057_2061del

Select item 14897574453.

rs1489757445 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:58352938 (GRCh38)
17:56430299 (GRCh37)
Canonical SPDI:: NC_000017.11:58352937:A:G
Gene:: SUPT4H1 (Varview), RNF43 (Varview), TSPOAP1-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,3_prime_UTR_variant,upstream_transcript_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_000017.11:g.58352938A>G, NC_000017.10:g.56430299A>G, NG_042894.1:g.69645T>C, NM_017763.5:c.*2005T>C, NM_001305544.2:c.*2005T>C, NM_001305544.1:c.*2005T>C, NM_001305545.1:c.*2005T>C, XM_047436331.1:c.*2005T>C, XM_047436332.1:c.*2005T>C, NR_038410.1:n.1694A>G, NR_038414.1:n.1662A>G, NR_038415.1:n.1598A>G, NR_038416.1:n.1589A>G, NR_038411.1:n.1489A>G, NR_038412.1:n.1480A>G, NR_038417.1:n.1461A>G, NR_038418.1:n.1452A>G, NR_038413.1:n.1412A>G

Select item 14897270664.

rs1489727066 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G,T [Show Flanks]
Chromosome:: 17:58352214 (GRCh38)
17:56429575 (GRCh37)
Canonical SPDI:: NC_000017.11:58352213:A:C,NC_000017.11:58352213:A:G,NC_000017.11:58352213:A:T
Gene:: SUPT4H1 (Varview), RNF43 (Varview), TSPOAP1-AS1 (Varview)
Functional Consequence:: downstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant,500B_downstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000017.11:g.58352214A>C, NC_000017.11:g.58352214A>G, NC_000017.11:g.58352214A>T, NC_000017.10:g.56429575A>C, NC_000017.10:g.56429575A>G, NC_000017.10:g.56429575A>T, NG_042894.1:g.70369T>G, NG_042894.1:g.70369T>C, NG_042894.1:g.70369T>A, NM_003168.2:c.-79T>G, NM_003168.2:c.-79T>C, NM_003168.2:c.-79T>A, NR_038410.1:n.970A>C, NR_038410.1:n.970A>G, NR_038410.1:n.970A>T, NR_038414.1:n.938A>C, NR_038414.1:n.938A>G, NR_038414.1:n.938A>T, NR_038415.1:n.874A>C, NR_038415.1:n.874A>G, NR_038415.1:n.874A>T, NR_038416.1:n.865A>C, NR_038416.1:n.865A>G, NR_038416.1:n.865A>T, NR_038411.1:n.765A>C, NR_038411.1:n.765A>G, NR_038411.1:n.765A>T, NR_038412.1:n.756A>C, NR_038412.1:n.756A>G, NR_038412.1:n.756A>T, NR_038417.1:n.737A>C, NR_038417.1:n.737A>G, NR_038417.1:n.737A>T, NR_038418.1:n.728A>C, NR_038418.1:n.728A>G, NR_038418.1:n.728A>T, NR_038413.1:n.688A>C, NR_038413.1:n.688A>G, NR_038413.1:n.688A>T, NR_073470.1:n.25T>G, NR_073470.1:n.25T>C, NR_073470.1:n.25T>A

Select item 14895175975.

rs1489517597 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GCGG [Show Flanks]
Chromosome:: 17:58352327 (GRCh38)
17:56429689 (GRCh37)
Canonical SPDI:: NC_000017.11:58352327:GGGCGG:GGGCGGGCGG
Gene:: SUPT4H1 (Varview), RNF43 (Varview), TSPOAP1-AS1 (Varview)
Functional Consequence:: downstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant,500B_downstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGCGGGCGG=0.000071/1 (ALFA)
GGGC=0.000036/5 (GnomAD)
GGGC=0.000038/10 (TOPMED)
HGVS:: NC_000017.11:g.58352330_58352333dup, NC_000017.10:g.56429691_56429694dup, NG_042894.1:g.70252_70255dup, NR_038410.1:n.1086_1089dup, NR_038414.1:n.1054_1057dup, NR_038415.1:n.990_993dup, NR_038416.1:n.981_984dup, NR_038411.1:n.881_884dup, NR_038412.1:n.872_875dup, NR_038417.1:n.853_856dup, NR_038418.1:n.844_847dup, NR_038413.1:n.804_807dup

Select item 14890067586.

rs1489006758 has merged into rs368279146 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,T,TTT,TTTTT [Show Flanks]
Chromosome:: 17:58352558 (GRCh38)
17:56429919 (GRCh37)
Canonical SPDI:: NC_000017.11:58352552:TTTTTTTTT:TTTTT,NC_000017.11:58352552:TTTTTTTTT:TTTTTT,NC_000017.11:58352552:TTTTTTTTT:TTTTTTTT,NC_000017.11:58352552:TTTTTTTTT:TTTTTTTTTT
Gene:: SUPT4H1 (Varview), RNF43 (Varview), TSPOAP1-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant,2KB_upstream_variant,3_prime_UTR_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTT=0./0 (ALFA)
HGVS:: NC_000017.11:g.58352558_58352561del, NC_000017.11:g.58352559_58352561del, NC_000017.11:g.58352561del, NC_000017.11:g.58352561dup, NC_000017.10:g.56429919_56429922del, NC_000017.10:g.56429920_56429922del, NC_000017.10:g.56429922del, NC_000017.10:g.56429922dup, NG_042894.1:g.70027_70030del, NG_042894.1:g.70028_70030del, NG_042894.1:g.70030del, NG_042894.1:g.70030dup, NM_017763.5:c.*2387_*2390del, NM_017763.5:c.*2388_*2390del, NM_017763.5:c.*2390del, NM_017763.5:c.*2390dup, NM_001305544.2:c.*2387_*2390del, NM_001305544.2:c.*2388_*2390del, NM_001305544.2:c.*2390del, NM_001305544.2:c.*2390dup, NM_001305544.1:c.*2387_*2390del, NM_001305544.1:c.*2388_*2390del, NM_001305544.1:c.*2390del, NM_001305544.1:c.*2390dup, NM_001305545.1:c.*2387_*2390del, NM_001305545.1:c.*2388_*2390del, NM_001305545.1:c.*2390del, NM_001305545.1:c.*2390dup, XM_047436331.1:c.*2387_*2390del, XM_047436331.1:c.*2388_*2390del, XM_047436331.1:c.*2390del, XM_047436331.1:c.*2390dup, XM_047436332.1:c.*2387_*2390del, XM_047436332.1:c.*2388_*2390del, XM_047436332.1:c.*2390del, XM_047436332.1:c.*2390dup, NR_038410.1:n.1314_1317del, NR_038410.1:n.1315_1317del, NR_038410.1:n.1317del, NR_038410.1:n.1317dup, NR_038414.1:n.1282_1285del, NR_038414.1:n.1283_1285del, NR_038414.1:n.1285del, NR_038414.1:n.1285dup, NR_038415.1:n.1218_1221del, NR_038415.1:n.1219_1221del, NR_038415.1:n.1221del, NR_038415.1:n.1221dup, NR_038416.1:n.1209_1212del, NR_038416.1:n.1210_1212del, NR_038416.1:n.1212del, NR_038416.1:n.1212dup, NR_038411.1:n.1109_1112del, NR_038411.1:n.1110_1112del, NR_038411.1:n.1112del, NR_038411.1:n.1112dup, NR_038412.1:n.1100_1103del, NR_038412.1:n.1101_1103del, NR_038412.1:n.1103del, NR_038412.1:n.1103dup, NR_038417.1:n.1081_1084del, NR_038417.1:n.1082_1084del, NR_038417.1:n.1084del, NR_038417.1:n.1084dup, NR_038418.1:n.1072_1075del, NR_038418.1:n.1073_1075del, NR_038418.1:n.1075del, NR_038418.1:n.1075dup, NR_038413.1:n.1032_1035del, NR_038413.1:n.1033_1035del, NR_038413.1:n.1035del, NR_038413.1:n.1035dup

Select item 14889750117.

rs1488975011 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 17:58351892 (GRCh38)
17:56429253 (GRCh37)
Canonical SPDI:: NC_000017.11:58351891:A:C
Gene:: SUPT4H1 (Varview), TSPOAP1-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,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_000017.11:g.58351892A>C, NC_000017.10:g.56429253A>C, NG_042894.1:g.70691T>G, NR_038410.1:n.732A>C, NR_038414.1:n.700A>C, NR_038415.1:n.636A>C, NR_038416.1:n.627A>C, NR_038411.1:n.527A>C, NR_038412.1:n.518A>C, NR_038417.1:n.499A>C, NR_038418.1:n.490A>C, NR_038413.1:n.450A>C

Select item 14862140878.

rs1486214087 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:58351877 (GRCh38)
17:56429238 (GRCh37)
Canonical SPDI:: NC_000017.11:58351876:C:G
Gene:: SUPT4H1 (Varview), TSPOAP1-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000015/4 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000017.11:g.58351877C>G, NC_000017.10:g.56429238C>G, NG_042894.1:g.70706G>C, NR_038410.1:n.717C>G, NR_038414.1:n.685C>G, NR_038415.1:n.621C>G, NR_038416.1:n.612C>G, NR_038411.1:n.512C>G, NR_038412.1:n.503C>G, NR_038417.1:n.484C>G, NR_038418.1:n.475C>G, NR_038413.1:n.435C>G

Select item 14854701449.

rs1485470144 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:58352381 (GRCh38)
17:56429742 (GRCh37)
Canonical SPDI:: NC_000017.11:58352380:G:A
Gene:: SUPT4H1 (Varview), RNF43 (Varview), TSPOAP1-AS1 (Varview)
Functional Consequence:: downstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant,500B_downstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000021/3 (GnomAD)
A=0.000034/9 (TOPMED)
HGVS:: NC_000017.11:g.58352381G>A, NC_000017.10:g.56429742G>A, NG_042894.1:g.70202C>T, NR_038410.1:n.1137G>A, NR_038414.1:n.1105G>A, NR_038415.1:n.1041G>A, NR_038416.1:n.1032G>A, NR_038411.1:n.932G>A, NR_038412.1:n.923G>A, NR_038417.1:n.904G>A, NR_038418.1:n.895G>A, NR_038413.1:n.855G>A

Select item 148507809810.

rs1485078098 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 17:58352164 (GRCh38)
17:56429525 (GRCh37)
Canonical SPDI:: NC_000017.11:58352163:A:C
Gene:: SUPT4H1 (Varview), RNF43 (Varview), TSPOAP1-AS1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,downstream_transcript_variant,500B_downstream_variant,non_coding_transcript_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.58352164A>C, NC_000017.10:g.56429525A>C, NG_042894.1:g.70419T>G, NM_003168.3:c.-29T>G, NM_003168.2:c.-29T>G, NR_073470.2:n.38T>G, NR_073470.1:n.75T>G, NR_038410.1:n.920A>C, NR_038414.1:n.888A>C, NR_038415.1:n.824A>C, NR_038416.1:n.815A>C, NR_038411.1:n.715A>C, NR_038412.1:n.706A>C, NR_038417.1:n.687A>C, NR_038418.1:n.678A>C, NR_038413.1:n.638A>C

Select item 148466143711.

rs1484661437 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:58352657 (GRCh38)
17:56430018 (GRCh37)
Canonical SPDI:: NC_000017.11:58352656:C:T
Gene:: SUPT4H1 (Varview), RNF43 (Varview), TSPOAP1-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,3_prime_UTR_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000019/5 (TOPMED)
HGVS:: NC_000017.11:g.58352657C>T, NC_000017.10:g.56430018C>T, NG_042894.1:g.69926G>A, NM_017763.5:c.*2286G>A, NM_001305544.2:c.*2286G>A, NM_001305544.1:c.*2286G>A, NM_001305545.1:c.*2286G>A, XM_047436331.1:c.*2286G>A, XM_047436332.1:c.*2286G>A, NR_038410.1:n.1413C>T, NR_038414.1:n.1381C>T, NR_038415.1:n.1317C>T, NR_038416.1:n.1308C>T, NR_038411.1:n.1208C>T, NR_038412.1:n.1199C>T, NR_038417.1:n.1180C>T, NR_038418.1:n.1171C>T, NR_038413.1:n.1131C>T

Select item 148463037012.

rs1484630370 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:58352021 (GRCh38)
17:56429382 (GRCh37)
Canonical SPDI:: NC_000017.11:58352020:G:A
Gene:: SUPT4H1 (Varview), RNF43 (Varview), TSPOAP1-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,downstream_transcript_variant,500B_downstream_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000017.11:g.58352021G>A, NC_000017.10:g.56429382G>A, NG_042894.1:g.70562C>T, NR_038410.1:n.777G>A, NR_038414.1:n.745G>A, NR_038415.1:n.681G>A, NR_038416.1:n.672G>A, NR_038411.1:n.572G>A, NR_038412.1:n.563G>A, NR_038417.1:n.544G>A, NR_038418.1:n.535G>A, NR_038413.1:n.495G>A

Select item 148399852513.

rs1483998525 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:58352567 (GRCh38)
17:56429928 (GRCh37)
Canonical SPDI:: NC_000017.11:58352566:G:T
Gene:: SUPT4H1 (Varview), RNF43 (Varview), TSPOAP1-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,3_prime_UTR_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.0011/18 (ALFA)
T=0.00424/19 (Estonian)
HGVS:: NC_000017.11:g.58352567G>T, NC_000017.10:g.56429928G>T, NG_042894.1:g.70016C>A, NM_017763.5:c.*2376C>A, NM_001305544.2:c.*2376C>A, NM_001305544.1:c.*2376C>A, NM_001305545.1:c.*2376C>A, XM_047436331.1:c.*2376C>A, XM_047436332.1:c.*2376C>A, NR_038410.1:n.1323G>T, NR_038414.1:n.1291G>T, NR_038415.1:n.1227G>T, NR_038416.1:n.1218G>T, NR_038411.1:n.1118G>T, NR_038412.1:n.1109G>T, NR_038417.1:n.1090G>T, NR_038418.1:n.1081G>T, NR_038413.1:n.1041G>T

Select item 148352912814.

rs1483529128 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:58352099 (GRCh38)
17:56429460 (GRCh37)
Canonical SPDI:: NC_000017.11:58352098:G:A
Gene:: SUPT4H1 (Varview), RNF43 (Varview), TSPOAP1-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,downstream_transcript_variant,500B_downstream_variant,non_coding_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0.000047/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.58352099G>A, NC_000017.10:g.56429460G>A, NG_042894.1:g.70484C>T, NM_003168.3:c.37C>T, NM_003168.2:c.37C>T, NR_073470.2:n.103C>T, NR_073470.1:n.140C>T, NR_038410.1:n.855G>A, NR_038414.1:n.823G>A, NR_038415.1:n.759G>A, NR_038416.1:n.750G>A, NR_038411.1:n.650G>A, NR_038412.1:n.641G>A, NR_038417.1:n.622G>A, NR_038418.1:n.613G>A, NR_038413.1:n.573G>A

Select item 148167836515.

rs1481678365 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:58353019 (GRCh38)
17:56430380 (GRCh37)
Canonical SPDI:: NC_000017.11:58353018:G:A
Gene:: SUPT4H1 (Varview), RNF43 (Varview), TSPOAP1-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,3_prime_UTR_variant,upstream_transcript_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_000017.11:g.58353019G>A, NC_000017.10:g.56430380G>A, NG_042894.1:g.69564C>T, NM_017763.5:c.*1924C>T, NM_001305544.2:c.*1924C>T, NM_001305544.1:c.*1924C>T, NM_001305545.1:c.*1924C>T, XM_047436331.1:c.*1924C>T, XM_047436332.1:c.*1924C>T, NR_038410.1:n.1775G>A, NR_038414.1:n.1743G>A, NR_038415.1:n.1679G>A, NR_038416.1:n.1670G>A, NR_038411.1:n.1570G>A, NR_038412.1:n.1561G>A, NR_038417.1:n.1542G>A, NR_038418.1:n.1533G>A, NR_038413.1:n.1493G>A

Select item 148072899416.

rs1480728994 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 17:58353661 (GRCh38)
17:56431022 (GRCh37)
Canonical SPDI:: NC_000017.11:58353660:C:A
Gene:: SUPT4H1 (Varview), RNF43 (Varview), TSPOAP1-AS1 (Varview)
Functional Consequence:: downstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,3_prime_UTR_variant,upstream_transcript_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_000017.11:g.58353661C>A, NC_000017.10:g.56431022C>A, NG_042894.1:g.68922G>T, NM_017763.5:c.*1282G>T, NM_001305544.2:c.*1282G>T, NM_001305544.1:c.*1282G>T, NM_001305545.1:c.*1282G>T, XM_047436331.1:c.*1282G>T, XM_047436332.1:c.*1282G>T, NR_038410.1:n.2417C>A, NR_038414.1:n.2385C>A, NR_038415.1:n.2321C>A, NR_038416.1:n.2312C>A, NR_038411.1:n.2212C>A, NR_038412.1:n.2203C>A, NR_038417.1:n.2184C>A, NR_038418.1:n.2175C>A, NR_038413.1:n.2135C>A

Select item 147972058417.

rs1479720584 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 17:58352313 (GRCh38)
17:56429674 (GRCh37)
Canonical SPDI:: NC_000017.11:58352312:G:A,NC_000017.11:58352312:G:C
Gene:: SUPT4H1 (Varview), RNF43 (Varview), TSPOAP1-AS1 (Varview)
Functional Consequence:: downstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant,500B_downstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.00007/1 (TOMMO)
HGVS:: NC_000017.11:g.58352313G>A, NC_000017.11:g.58352313G>C, NC_000017.10:g.56429674G>A, NC_000017.10:g.56429674G>C, NG_042894.1:g.70270C>T, NG_042894.1:g.70270C>G, NR_038410.1:n.1069G>A, NR_038410.1:n.1069G>C, NR_038414.1:n.1037G>A, NR_038414.1:n.1037G>C, NR_038415.1:n.973G>A, NR_038415.1:n.973G>C, NR_038416.1:n.964G>A, NR_038416.1:n.964G>C, NR_038411.1:n.864G>A, NR_038411.1:n.864G>C, NR_038412.1:n.855G>A, NR_038412.1:n.855G>C, NR_038417.1:n.836G>A, NR_038417.1:n.836G>C, NR_038418.1:n.827G>A, NR_038418.1:n.827G>C, NR_038413.1:n.787G>A, NR_038413.1:n.787G>C

Select item 147927349818.

rs1479273498 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:58337309 (GRCh38)
17:56414670 (GRCh37)
Canonical SPDI:: NC_000017.11:58337308:T:C
Gene:: TSPOAP1-AS1 (Varview), MIR4736 (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000019/5 (TOPMED)
C=0.000029/4 (GnomAD)
HGVS:: NC_000017.11:g.58337309T>C, NC_000017.10:g.56414670T>C, NR_038414.1:n.108T>C, NR_038415.1:n.108T>C, NR_038416.1:n.108T>C, NR_038417.1:n.108T>C, NR_038418.1:n.108T>C

Select item 147877102919.

rs1478771029 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:58352639 (GRCh38)
17:56430000 (GRCh37)
Canonical SPDI:: NC_000017.11:58352638:G:A
Gene:: SUPT4H1 (Varview), RNF43 (Varview), TSPOAP1-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,3_prime_UTR_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.58352639G>A, NC_000017.10:g.56430000G>A, NG_042894.1:g.69944C>T, NM_017763.5:c.*2304C>T, NM_001305544.2:c.*2304C>T, NM_001305544.1:c.*2304C>T, NM_001305545.1:c.*2304C>T, XM_047436331.1:c.*2304C>T, XM_047436332.1:c.*2304C>T, NR_038410.1:n.1395G>A, NR_038414.1:n.1363G>A, NR_038415.1:n.1299G>A, NR_038416.1:n.1290G>A, NR_038411.1:n.1190G>A, NR_038412.1:n.1181G>A, NR_038417.1:n.1162G>A, NR_038418.1:n.1153G>A, NR_038413.1:n.1113G>A

Select item 147651838720.

rs1476518387 [Homo sapiens]

Variant type:: INS
Alleles:: ->TGGGGCAGGC [Show Flanks]
Chromosome:: 17:58346315 (GRCh38)
17:56423677 (GRCh37)
Canonical SPDI:: NC_000017.11:58346315::TGGGGCAGGC
Gene:: SUPT4H1 (Varview), TSPOAP1-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
HGVS:: NC_000017.11:g.58346315_58346316insTGGGGCAGGC, NC_000017.10:g.56423676_56423677insTGGGGCAGGC, NR_038414.1:n.514_515insTGGGGCAGGC

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