SNP Links for Gene (Select 8771) - SNP

Links from Gene

Items: 1 to 20 of 2143

<< First< Prev

Page of 108

Next >Last >>

Select item 14905064141.

rs1490506414 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 20:63696844 (GRCh38)
20:62328197 (GRCh37)
Canonical SPDI:: NC_000020.11:63696843:C:G
Gene:: TNFRSF6B (Varview), RTEL1-TNFRSF6B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by cluster
MAF:: G=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.63696844C>G, NC_000020.10:g.62328197C>G, NG_033901.1:g.44035C>G, NG_046961.1:g.5194C>G, NM_003823.4:c.77C>G, NM_003823.3:c.77C>G, NM_032945.2:c.77C>G, NR_037882.1:n.4811C>G, NM_032945.1:c.77C>G, NP_003814.1:p.Ala26Gly

Select item 14891498782.

rs1489149878 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:63697012 (GRCh38)
20:62328365 (GRCh37)
Canonical SPDI:: NC_000020.11:63697011:G:A
Gene:: TNFRSF6B (Varview), RTEL1-TNFRSF6B (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0.000111/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.63697012G>A, NC_000020.10:g.62328365G>A, NG_033901.1:g.44203G>A, NG_046961.1:g.5362G>A, NM_003823.4:c.245G>A, NM_003823.3:c.245G>A, NM_032945.2:c.245G>A, NR_037882.1:n.4979G>A, NM_032945.1:c.245G>A, NP_003814.1:p.Trp82Ter

Select item 14888242553.

rs1488824255 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 20:63697157 (GRCh38)
20:62328510 (GRCh37)
Canonical SPDI:: NC_000020.11:63697156:A:G,NC_000020.11:63697156:A:T
Gene:: TNFRSF6B (Varview), RTEL1-TNFRSF6B (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
G=0.000006/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.63697157A>G, NC_000020.11:g.63697157A>T, NC_000020.10:g.62328510A>G, NC_000020.10:g.62328510A>T, NG_033901.1:g.44348A>G, NG_033901.1:g.44348A>T, NG_046961.1:g.5507A>G, NG_046961.1:g.5507A>T, NM_003823.4:c.390A>G, NM_003823.4:c.390A>T, NM_003823.3:c.390A>G, NM_003823.3:c.390A>T, NM_032945.2:c.390A>G, NM_032945.2:c.390A>T, NR_037882.1:n.5124A>G, NR_037882.1:n.5124A>T, NM_032945.1:c.390A>G, NM_032945.1:c.390A>T

Select item 14886837254.

rs1488683725 [Homo sapiens]

Variant type:: DELINS
Alleles:: CAG>- [Show Flanks]
Chromosome:: 20:63695547 (GRCh38)
20:62326900 (GRCh37)
Canonical SPDI:: NC_000020.11:63695543:CAGCAG:CAG
Gene:: TNFRSF6B (Varview), RTEL1 (Varview), RTEL1-TNFRSF6B (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,intron_variant,upstream_transcript_variant,inframe_deletion,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CAGCAG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.63695544CAG[1], NC_000020.10:g.62326897CAG[1], NG_033901.1:g.42735CAG[1], NM_001283009.2:c.3716CAG[1], NM_001283009.1:c.3716CAG[1], NG_046961.1:g.3894CAG[1], NM_015647.2:c.1451CAG[1], NR_037882.1:n.4543CAG[1], NM_015647.1:c.1451CAG[1], NP_001269938.1:p.Ala1240del

Select item 14885302715.

rs1488530271 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:63697449 (GRCh38)
20:62328802 (GRCh37)
Canonical SPDI:: NC_000020.11:63697448:T:C
Gene:: TNFRSF6B (Varview), RTEL1-TNFRSF6B (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.63697449T>C, NC_000020.10:g.62328802T>C, NG_033901.1:g.44640T>C, NG_046961.1:g.5799T>C, NM_003823.4:c.546T>C, NM_003823.3:c.546T>C, NM_032945.2:c.546T>C, NR_037882.1:n.5280T>C, NM_032945.1:c.546T>C

Select item 14879066196.

rs1487906619 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:63695138 (GRCh38)
20:62326491 (GRCh37)
Canonical SPDI:: NC_000020.11:63695137:C:T
Gene:: TNFRSF6B (Varview), RTEL1 (Varview), RTEL1-TNFRSF6B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
HGVS:: NC_000020.11:g.63695138C>T, NC_000020.10:g.62326491C>T, NG_033901.1:g.42329C>T, NM_032957.5:c.3488C>T, NM_032957.4:c.3488C>T, NM_016434.4:c.3416C>T, NM_016434.3:c.3416C>T, NM_001283009.2:c.3416C>T, NM_001283009.1:c.3416C>T, NM_001283010.1:c.2747C>T, NG_046961.1:g.3488C>T, NM_015647.2:c.1151C>T, NM_032945.2:c.-322C>T, NR_037882.1:n.4243C>T, NM_015647.1:c.1151C>T, NM_032945.1:c.-322C>T, NP_116575.3:p.Pro1163Leu, NP_057518.1:p.Pro1139Leu, NP_001269938.1:p.Pro1139Leu, NP_001269939.1:p.Pro916Leu

Select item 14868375897.

rs1486837589 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 20:63698486 (GRCh38)
20:62329839 (GRCh37)
Canonical SPDI:: NC_000020.11:63698485:C:G
Gene:: TNFRSF6B (Varview), ARFRP1 (Varview), RTEL1-TNFRSF6B (Varview)
Functional Consequence:: missense_variant,downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
G=0.000156/1 (1000Genomes)
HGVS:: NC_000020.11:g.63698486C>G, NC_000020.10:g.62329839C>G, NG_046961.1:g.6836C>G, NM_003823.4:c.826C>G, NM_003823.3:c.826C>G, NM_032945.2:c.826C>G, NR_037882.1:n.5560C>G, NM_032945.1:c.826C>G, NP_003814.1:p.Leu276Val

Select item 14845406498.

rs1484540649 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 20:63698972 (GRCh38)
20:62330326 (GRCh37)
Canonical SPDI:: NC_000020.11:63698972:CCCCCC:CCCCCCC
Gene:: TNFRSF6B (Varview), ARFRP1 (Varview), RTEL1-TNFRSF6B (Varview)
Functional Consequence:: 3_prime_UTR_variant,downstream_transcript_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCCC=0.000071/1 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000034/9 (TOPMED)
C=0.000546/1 (Korea1K)
C=0.000566/9 (TOMMO)
HGVS:: NC_000020.11:g.63698978dup, NC_000020.10:g.62330331dup, NG_046961.1:g.7328dup, NM_003224.6:c.*1470dup, NM_003224.5:c.*1470dup, NM_003224.4:c.*1469dup, NM_001134758.4:c.*1625dup, NM_001134758.3:c.*1625dup, NM_001134758.2:c.*1624dup, XM_011528482.4:c.*1470dup, NM_001267549.3:c.*1625dup, NM_001267549.2:c.*1625dup, NM_001267549.1:c.*1624dup, NM_001267544.3:c.*1710dup, NM_001267544.2:c.*1710dup, NM_001267544.1:c.*1709dup, NM_001267547.3:c.*1470dup, NM_001267547.2:c.*1470dup, NM_001267547.1:c.*1469dup, NR_051955.3:n.2190dup, NR_051955.2:n.2227dup, NR_051955.1:n.2226dup, NR_051956.3:n.2187dup, NR_051956.2:n.2224dup, NR_051956.1:n.2223dup, NM_001267545.3:c.*1710dup, NM_001267545.2:c.*1710dup, NM_001267545.1:c.*1709dup, NR_051954.3:n.2185dup, NR_051954.2:n.2222dup, NR_051954.1:n.2221dup, NR_051957.3:n.2182dup, NR_051957.2:n.2219dup, NR_051957.1:n.2218dup, NM_001267548.3:c.*1470dup, NM_001267548.2:c.*1470dup, NM_001267548.1:c.*1469dup, NR_051958.3:n.2116dup, NR_051958.2:n.2153dup, NR_051958.1:n.2152dup, NM_001267546.3:c.*1470dup, NM_001267546.2:c.*1470dup, NM_001267546.1:c.*1469dup, XM_011528483.2:c.*1470dup, XM_047439821.1:c.*1470dup

Select item 14838610809.

rs1483861080 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:63697639 (GRCh38)
20:62328992 (GRCh37)
Canonical SPDI:: NC_000020.11:63697638:A:G
Gene:: TNFRSF6B (Varview), RTEL1-TNFRSF6B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000020.11:g.63697639A>G, NC_000020.10:g.62328992A>G, NG_033901.1:g.44830A>G, NG_046961.1:g.5989A>G

Select item 148382016510.

rs1483820165 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:63694847 (GRCh38)
20:62326200 (GRCh37)
Canonical SPDI:: NC_000020.11:63694846:G:A
Gene:: TNFRSF6B (Varview), RTEL1 (Varview), RTEL1-TNFRSF6B (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.63694847G>A, NC_000020.10:g.62326200G>A, NG_033901.1:g.42038G>A, NM_032957.5:c.3288G>A, NM_032957.4:c.3288G>A, NM_016434.4:c.3216G>A, NM_016434.3:c.3216G>A, NM_001283009.2:c.3216G>A, NM_001283009.1:c.3216G>A, NM_001283010.1:c.2547G>A, NG_046961.1:g.3197G>A, NM_015647.2:c.951G>A, NR_037882.1:n.4043G>A, NM_015647.1:c.951G>A

Select item 148369404911.

rs1483694049 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 20:63696077 (GRCh38)
20:62327430 (GRCh37)
Canonical SPDI:: NC_000020.11:63696076:G:A,NC_000020.11:63696076:G:T
Gene:: TNFRSF6B (Varview), RTEL1 (Varview), RTEL1-TNFRSF6B (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.63696077G>A, NC_000020.11:g.63696077G>T, NC_000020.10:g.62327430G>A, NC_000020.10:g.62327430G>T, NG_033901.1:g.43268G>A, NG_033901.1:g.43268G>T, NM_032957.5:c.*292G>A, NM_032957.5:c.*292G>T, NM_032957.4:c.*292G>A, NM_032957.4:c.*292G>T, NM_016434.4:c.*292G>A, NM_016434.4:c.*292G>T, NM_016434.3:c.*292G>A, NM_016434.3:c.*292G>T, NM_001283009.2:c.*219G>A, NM_001283009.2:c.*219G>T, NM_001283009.1:c.*219G>A, NM_001283009.1:c.*219G>T, NM_001283010.1:c.*292G>A, NM_001283010.1:c.*292G>T, NG_046961.1:g.4427G>A, NG_046961.1:g.4427G>T, NM_015647.2:c.*219G>A, NM_015647.2:c.*219G>T, NM_015647.1:c.*219G>A, NM_015647.1:c.*219G>T

Select item 148349155612.

rs1483491556 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:63695969 (GRCh38)
20:62327322 (GRCh37)
Canonical SPDI:: NC_000020.11:63695968:T:C
Gene:: TNFRSF6B (Varview), RTEL1 (Varview), RTEL1-TNFRSF6B (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000020.11:g.63695969T>C, NC_000020.10:g.62327322T>C, NG_033901.1:g.43160T>C, NM_032957.5:c.*184T>C, NM_032957.4:c.*184T>C, NM_016434.4:c.*184T>C, NM_016434.3:c.*184T>C, NM_001283009.2:c.*111T>C, NM_001283009.1:c.*111T>C, NM_001283010.1:c.*184T>C, NG_046961.1:g.4319T>C, NM_015647.2:c.*111T>C, NM_015647.1:c.*111T>C

Select item 148310014213.

rs1483100142 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:63699192 (GRCh38)
20:62330545 (GRCh37)
Canonical SPDI:: NC_000020.11:63699191:C:T
Gene:: ARFRP1 (Varview), RTEL1-TNFRSF6B (Varview)
Functional Consequence:: 3_prime_UTR_variant,downstream_transcript_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000020.11:g.63699192C>T, NC_000020.10:g.62330545C>T, NG_046961.1:g.7542C>T, NM_003224.6:c.*1251G>A, NM_003224.5:c.*1251G>A, NM_003224.4:c.*1250G>A, NM_001134758.4:c.*1406G>A, NM_001134758.3:c.*1406G>A, NM_001134758.2:c.*1405G>A, XM_011528482.4:c.*1251G>A, NM_001267549.3:c.*1406G>A, NM_001267549.2:c.*1406G>A, NM_001267549.1:c.*1405G>A, NM_001267544.3:c.*1491G>A, NM_001267544.2:c.*1491G>A, NM_001267544.1:c.*1490G>A, NM_001267547.3:c.*1251G>A, NM_001267547.2:c.*1251G>A, NM_001267547.1:c.*1250G>A, NR_051955.3:n.1971G>A, NR_051955.2:n.2008G>A, NR_051955.1:n.2007G>A, NR_051956.3:n.1968G>A, NR_051956.2:n.2005G>A, NR_051956.1:n.2004G>A, NM_001267545.3:c.*1491G>A, NM_001267545.2:c.*1491G>A, NM_001267545.1:c.*1490G>A, NR_051954.3:n.1966G>A, NR_051954.2:n.2003G>A, NR_051954.1:n.2002G>A, NR_051957.3:n.1963G>A, NR_051957.2:n.2000G>A, NR_051957.1:n.1999G>A, NM_001267548.3:c.*1251G>A, NM_001267548.2:c.*1251G>A, NM_001267548.1:c.*1250G>A, NR_051958.3:n.1897G>A, NR_051958.2:n.1934G>A, NR_051958.1:n.1933G>A, NM_001267546.3:c.*1251G>A, NM_001267546.2:c.*1251G>A, NM_001267546.1:c.*1250G>A, XM_011528483.2:c.*1251G>A, XM_047439821.1:c.*1251G>A

Select item 148290923414.

rs1482909234 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 20:63697353 (GRCh38)
20:62328706 (GRCh37)
Canonical SPDI:: NC_000020.11:63697352:C:A
Gene:: TNFRSF6B (Varview), RTEL1-TNFRSF6B (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000094/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.63697353C>A, NC_000020.10:g.62328706C>A, NG_033901.1:g.44544C>A, NG_046961.1:g.5703C>A, NM_003823.4:c.450C>A, NM_003823.3:c.450C>A, NM_032945.2:c.450C>A, NR_037882.1:n.5184C>A, NM_032945.1:c.450C>A, NP_003814.1:p.Cys150Ter

Select item 148263695015.

rs1482636950 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:63694689 (GRCh38)
20:62326042 (GRCh37)
Canonical SPDI:: NC_000020.11:63694688:C:T
Gene:: TNFRSF6B (Varview), RTEL1 (Varview), RTEL1-TNFRSF6B (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000020.11:g.63694689C>T, NC_000020.10:g.62326042C>T, NG_033901.1:g.41880C>T, NG_046961.1:g.3039C>T

Select item 148237778916.

rs1482377789 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 20:63695183 (GRCh38)
20:62326536 (GRCh37)
Canonical SPDI:: NC_000020.11:63695182:C:G,NC_000020.11:63695182:C:T
Gene:: TNFRSF6B (Varview), RTEL1 (Varview), RTEL1-TNFRSF6B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000043/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000020.11:g.63695183C>G, NC_000020.11:g.63695183C>T, NC_000020.10:g.62326536C>G, NC_000020.10:g.62326536C>T, NG_033901.1:g.42374C>G, NG_033901.1:g.42374C>T, NM_032957.5:c.3533C>G, NM_032957.5:c.3533C>T, NM_032957.4:c.3533C>G, NM_032957.4:c.3533C>T, NM_016434.4:c.3461C>G, NM_016434.4:c.3461C>T, NM_016434.3:c.3461C>G, NM_016434.3:c.3461C>T, NM_001283009.2:c.3461C>G, NM_001283009.2:c.3461C>T, NM_001283009.1:c.3461C>G, NM_001283009.1:c.3461C>T, NM_001283010.1:c.2792C>G, NM_001283010.1:c.2792C>T, NG_046961.1:g.3533C>G, NG_046961.1:g.3533C>T, NM_015647.2:c.1196C>G, NM_015647.2:c.1196C>T, NM_032945.2:c.-277C>G, NM_032945.2:c.-277C>T, NR_037882.1:n.4288C>G, NR_037882.1:n.4288C>T, NM_015647.1:c.1196C>G, NM_015647.1:c.1196C>T, NM_032945.1:c.-277C>G, NM_032945.1:c.-277C>T, NP_116575.3:p.Ala1178Gly, NP_116575.3:p.Ala1178Val, NP_057518.1:p.Ala1154Gly, NP_057518.1:p.Ala1154Val, NP_001269938.1:p.Ala1154Gly, NP_001269938.1:p.Ala1154Val, NP_001269939.1:p.Ala931Gly, NP_001269939.1:p.Ala931Val

Select item 148202748017.

rs1482027480 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 20:63698682 (GRCh38)
20:62330035 (GRCh37)
Canonical SPDI:: NC_000020.11:63698681:A:C,NC_000020.11:63698681:A:G
Gene:: TNFRSF6B (Varview), ARFRP1 (Varview), RTEL1-TNFRSF6B (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000020.11:g.63698682A>C, NC_000020.11:g.63698682A>G, NC_000020.10:g.62330035A>C, NC_000020.10:g.62330035A>G, NG_046961.1:g.7032A>C, NG_046961.1:g.7032A>G, NM_003823.4:c.*119A>C, NM_003823.4:c.*119A>G, NM_003823.3:c.*119A>C, NM_003823.3:c.*119A>G, NM_003224.6:c.*1761T>G, NM_003224.6:c.*1761T>C, NM_003224.5:c.*1761T>G, NM_003224.5:c.*1761T>C, NM_003224.4:c.*1760T>G, NM_003224.4:c.*1760T>C, NM_001134758.4:c.*1916T>G, NM_001134758.4:c.*1916T>C, NM_001134758.3:c.*1916T>G, NM_001134758.3:c.*1916T>C, NM_001134758.2:c.*1915T>G, NM_001134758.2:c.*1915T>C, XM_011528482.4:c.*1761T>G, XM_011528482.4:c.*1761T>C, NM_001267549.3:c.*1916T>G, NM_001267549.3:c.*1916T>C, NM_001267549.2:c.*1916T>G, NM_001267549.2:c.*1916T>C, NM_001267549.1:c.*1915T>G, NM_001267549.1:c.*1915T>C, NM_001267544.3:c.*2001T>G, NM_001267544.3:c.*2001T>C, NM_001267544.2:c.*2001T>G, NM_001267544.2:c.*2001T>C, NM_001267544.1:c.*2000T>G, NM_001267544.1:c.*2000T>C, NM_001267547.3:c.*1761T>G, NM_001267547.3:c.*1761T>C, NM_001267547.2:c.*1761T>G, NM_001267547.2:c.*1761T>C, NM_001267547.1:c.*1760T>G, NM_001267547.1:c.*1760T>C, NR_051955.3:n.2481T>G, NR_051955.3:n.2481T>C, NR_051955.2:n.2518T>G, NR_051955.2:n.2518T>C, NR_051955.1:n.2517T>G, NR_051955.1:n.2517T>C, NR_051956.3:n.2478T>G, NR_051956.3:n.2478T>C, NR_051956.2:n.2515T>G, NR_051956.2:n.2515T>C, NR_051956.1:n.2514T>G, NR_051956.1:n.2514T>C, NM_001267545.3:c.*2001T>G, NM_001267545.3:c.*2001T>C, NM_001267545.2:c.*2001T>G, NM_001267545.2:c.*2001T>C, NM_001267545.1:c.*2000T>G, NM_001267545.1:c.*2000T>C, NR_051954.3:n.2476T>G, NR_051954.3:n.2476T>C, NR_051954.2:n.2513T>G, NR_051954.2:n.2513T>C, NR_051954.1:n.2512T>G, NR_051954.1:n.2512T>C, NR_051957.3:n.2473T>G, NR_051957.3:n.2473T>C, NR_051957.2:n.2510T>G, NR_051957.2:n.2510T>C, NR_051957.1:n.2509T>G, NR_051957.1:n.2509T>C, NM_001267548.3:c.*1761T>G, NM_001267548.3:c.*1761T>C, NM_001267548.2:c.*1761T>G, NM_001267548.2:c.*1761T>C, NM_001267548.1:c.*1760T>G, NM_001267548.1:c.*1760T>C, NR_051958.3:n.2407T>G, NR_051958.3:n.2407T>C, NR_051958.2:n.2444T>G, NR_051958.2:n.2444T>C, NR_051958.1:n.2443T>G, NR_051958.1:n.2443T>C, NM_001267546.3:c.*1761T>G, NM_001267546.3:c.*1761T>C, NM_001267546.2:c.*1761T>G, NM_001267546.2:c.*1761T>C, NM_001267546.1:c.*1760T>G, NM_001267546.1:c.*1760T>C, XM_011528483.2:c.*1761T>G, XM_011528483.2:c.*1761T>C, NM_032945.2:c.*119A>C, NM_032945.2:c.*119A>G, NR_037882.1:n.5756A>C, NR_037882.1:n.5756A>G, XM_047439821.1:c.*1761T>G, XM_047439821.1:c.*1761T>C, NM_032945.1:c.*120A>C, NM_032945.1:c.*120A>G

Select item 148022551818.

rs1480225518 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:63696808 (GRCh38)
20:62328161 (GRCh37)
Canonical SPDI:: NC_000020.11:63696807:T:C
Gene:: TNFRSF6B (Varview), RTEL1-TNFRSF6B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
HGVS:: NC_000020.11:g.63696808T>C, NC_000020.10:g.62328161T>C, NG_033901.1:g.43999T>C, NG_046961.1:g.5158T>C, NM_003823.4:c.41T>C, NM_003823.3:c.41T>C, NM_032945.2:c.41T>C, NR_037882.1:n.4775T>C, NM_032945.1:c.41T>C, NP_003814.1:p.Leu14Pro

Select item 147995180519.

rs1479951805 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 20:63695726 (GRCh38)
20:62327079 (GRCh37)
Canonical SPDI:: NC_000020.11:63695725:G:C
Gene:: TNFRSF6B (Varview), RTEL1 (Varview), RTEL1-TNFRSF6B (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_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_000020.11:g.63695726G>C, NC_000020.10:g.62327079G>C, NG_033901.1:g.42917G>C, NG_046961.1:g.4076G>C

Select item 147992163020.

rs1479921630 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:63695089 (GRCh38)
20:62326442 (GRCh37)
Canonical SPDI:: NC_000020.11:63695088:C:T
Gene:: TNFRSF6B (Varview), RTEL1 (Varview), RTEL1-TNFRSF6B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.63695089C>T, NC_000020.10:g.62326442C>T, NG_033901.1:g.42280C>T, NM_032957.5:c.3439C>T, NM_032957.4:c.3439C>T, NM_016434.4:c.3367C>T, NM_016434.3:c.3367C>T, NM_001283009.2:c.3367C>T, NM_001283009.1:c.3367C>T, NM_001283010.1:c.2698C>T, NG_046961.1:g.3439C>T, NM_015647.2:c.1102C>T, NM_032945.2:c.-371C>T, NR_037882.1:n.4194C>T, NM_015647.1:c.1102C>T, NM_032945.1:c.-371C>T, NP_116575.3:p.His1147Tyr, NP_057518.1:p.His1123Tyr, NP_001269938.1:p.His1123Tyr, NP_001269939.1:p.His900Tyr

<< First< Prev

Page of 108

Next >Last >>

dbSNP

Result Filters

Clinical Significance

Validation Status

Publication

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Gene

Items: 1 to 20 of 2143

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity