SNP Links for Gene (Select 127534) - SNP

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Links from Gene

Items: 1 to 20 of 1690

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Select item 14909467971.

rs1490946797 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:34757969 (GRCh38)
1:35223570 (GRCh37)
Canonical SPDI:: NC_000001.11:34757968:C:T
Gene:: GJB5 (Varview), GJB4 (Varview)
Functional Consequence:: synonymous_variant,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.34757969C>T, NC_000001.10:g.35223570C>T, NG_016243.1:g.3229C>T, NM_005268.4:c.639C>T, NM_005268.3:c.639C>T, XM_005270751.4:c.639C>T, XM_005270751.3:c.639C>T, XM_005270751.2:c.639C>T, XM_005270751.1:c.639C>T

Select item 14909152032.

rs1490915203 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:34761495 (GRCh38)
1:35227096 (GRCh37)
Canonical SPDI:: NC_000001.11:34761494:C:T
Gene:: GJB4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.000051/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.34761495C>T, NC_000001.10:g.35227096C>T, NG_016243.1:g.6755C>T, NM_153212.3:c.241C>T, NM_153212.2:c.241C>T, XM_011540679.3:c.241C>T, XM_011540679.2:c.241C>T, XM_011540679.1:c.241C>T, NP_694944.1:p.Leu81Phe, XP_011538981.1:p.Leu81Phe

Select item 14904103763.

rs1490410376 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 1:34763763 (GRCh38)
1:35229364 (GRCh37)
Canonical SPDI:: NC_000001.11:34763762:T:A
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.34763763T>A, NC_000001.10:g.35229364T>A, NG_016243.1:g.9023T>A

Select item 14898892454.

rs1489889245 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 1:34762333 (GRCh38)
1:35227934 (GRCh37)
Canonical SPDI:: NC_000001.11:34762332:C:G,NC_000001.11:34762332:C:T
Gene:: GJB4 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000001.11:g.34762333C>G, NC_000001.11:g.34762333C>T, NC_000001.10:g.35227934C>G, NC_000001.10:g.35227934C>T, NG_016243.1:g.7593C>G, NG_016243.1:g.7593C>T, NM_153212.2:c.*278C>G, NM_153212.2:c.*278C>T

Select item 14896024745.

rs1489602474 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:34758658 (GRCh38)
1:35224259 (GRCh37)
Canonical SPDI:: NC_000001.11:34758657:C:T
Gene:: GJB5 (Varview), GJB4 (Varview)
Functional Consequence:: 500B_downstream_variant,upstream_transcript_variant,downstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000064/9 (GnomAD)
T=0.000079/21 (TOPMED)
HGVS:: NC_000001.11:g.34758658C>T, NC_000001.10:g.35224259C>T, NG_016243.1:g.3918C>T

Select item 14887267746.

rs1488726774 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 1:34760615 (GRCh38)
1:35226216 (GRCh37)
Canonical SPDI:: NC_000001.11:34760614:C:A,NC_000001.11:34760614:C:T
Gene:: GJB4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000001.11:g.34760615C>A, NC_000001.11:g.34760615C>T, NC_000001.10:g.35226216C>A, NC_000001.10:g.35226216C>T, NG_016243.1:g.5875C>A, NG_016243.1:g.5875C>T

Select item 14885524917.

rs1488552491 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:34759763 (GRCh38)
1:35225364 (GRCh37)
Canonical SPDI:: NC_000001.11:34759762:G:A
Gene:: GJB4 (Varview)
Functional Consequence:: upstream_transcript_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.34759763G>A, NC_000001.10:g.35225364G>A, NG_016243.1:g.5023G>A, NM_153212.3:c.-348G>A, NM_153212.2:c.-348G>A

Select item 14881991578.

rs1488199157 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:34760595 (GRCh38)
1:35226196 (GRCh37)
Canonical SPDI:: NC_000001.11:34760594:G:A
Gene:: GJB4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.34760595G>A, NC_000001.10:g.35226196G>A, NG_016243.1:g.5855G>A

Select item 14871532019.

rs1487153201 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 1:34759446 (GRCh38)
1:35225047 (GRCh37)
Canonical SPDI:: NC_000001.11:34759445:T:A
Gene:: GJB4 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.0002/1 (ALFA)
A=0.0002/1 (Estonian)
HGVS:: NC_000001.11:g.34759446T>A, NC_000001.10:g.35225047T>A, NG_016243.1:g.4706T>A

Select item 148658606310.

rs1486586063 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:34759514 (GRCh38)
1:35225115 (GRCh37)
Canonical SPDI:: NC_000001.11:34759513:C:T
Gene:: GJB4 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000015/4 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000001.11:g.34759514C>T, NC_000001.10:g.35225115C>T, NG_016243.1:g.4774C>T

Select item 148637655511.

rs1486376555 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:34760496 (GRCh38)
1:35226097 (GRCh37)
Canonical SPDI:: NC_000001.11:34760495:G:A
Gene:: GJB4 (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_000001.11:g.34760496G>A, NC_000001.10:g.35226097G>A, NG_016243.1:g.5756G>A

Select item 148580791712.

rs1485807917 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:34762210 (GRCh38)
1:35227811 (GRCh37)
Canonical SPDI:: NC_000001.11:34762209:G:A
Gene:: GJB4 (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=0.000035/1 (TOMMO)
HGVS:: NC_000001.11:g.34762210G>A, NC_000001.10:g.35227811G>A, NG_016243.1:g.7470G>A, NM_153212.3:c.*155G>A, NM_153212.2:c.*155G>A, XM_011540679.3:c.*155G>A, XM_011540679.2:c.*155G>A, XM_011540679.1:c.*155G>A

Select item 148560870413.

rs1485608704 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 1:34759051 (GRCh38)
1:35224652 (GRCh37)
Canonical SPDI:: NC_000001.11:34759050:C:A,NC_000001.11:34759050:C:T
Gene:: GJB4 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.34759051C>A, NC_000001.11:g.34759051C>T, NC_000001.10:g.35224652C>A, NC_000001.10:g.35224652C>T, NG_016243.1:g.4311C>A, NG_016243.1:g.4311C>T

Select item 148536452114.

rs1485364521 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:34759725 (GRCh38)
1:35225326 (GRCh37)
Canonical SPDI:: NC_000001.11:34759724:C:T
Gene:: GJB4 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000023/6 (TOPMED)
T=0.000342/1 (KOREAN)
T=0.000546/1 (Korea1K)
T=0.001026/17 (TOMMO)
HGVS:: NC_000001.11:g.34759725C>T, NC_000001.10:g.35225326C>T, NG_016243.1:g.4985C>T

Select item 148464684515.

rs1484646845 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 1:34763052 (GRCh38)
1:35228653 (GRCh37)
Canonical SPDI:: NC_000001.11:34763051:A:T
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.34763052A>T, NC_000001.10:g.35228653A>T, NG_016243.1:g.8312A>T, NM_153212.2:c.*997A>T

Select item 148389154416.

rs1483891544 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:34758950 (GRCh38)
1:35224551 (GRCh37)
Canonical SPDI:: NC_000001.11:34758949:A:G
Gene:: GJB5 (Varview), GJB4 (Varview)
Functional Consequence:: downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.34758950A>G, NC_000001.10:g.35224551A>G, NG_016243.1:g.4210A>G

Select item 148297163617.

rs1482971636 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:34758037 (GRCh38)
1:35223638 (GRCh37)
Canonical SPDI:: NC_000001.11:34758036:C:A
Gene:: GJB5 (Varview), GJB4 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.34758037C>A, NC_000001.10:g.35223638C>A, NG_016243.1:g.3297C>A, NM_005268.4:c.707C>A, NM_005268.3:c.707C>A, XM_005270751.4:c.707C>A, XM_005270751.3:c.707C>A, XM_005270751.2:c.707C>A, XM_005270751.1:c.707C>A, NP_005259.1:p.Ser236Tyr, XP_005270808.1:p.Ser236Tyr

Select item 148255471918.

rs1482554719 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:34761260 (GRCh38)
1:35226861 (GRCh37)
Canonical SPDI:: NC_000001.11:34761259:C:T
Gene:: GJB4 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.34761260C>T, NC_000001.10:g.35226861C>T, NG_016243.1:g.6520C>T, NM_153212.3:c.6C>T, NM_153212.2:c.6C>T, XM_011540679.3:c.6C>T, XM_011540679.2:c.6C>T, XM_011540679.1:c.6C>T

Select item 148217058719.

rs1482170587 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 1:34761761 (GRCh38)
1:35227362 (GRCh37)
Canonical SPDI:: NC_000001.11:34761760:CCCCC:CCCC
Gene:: GJB4 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa
MAF:: CCCC=0./0 (ALFA)
-=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.34761765del, NC_000001.10:g.35227366del, NG_016243.1:g.7025del, NM_153212.3:c.511del, NM_153212.2:c.511del, XM_011540679.3:c.511del, XM_011540679.2:c.511del, XM_011540679.1:c.511del, NP_694944.1:p.His171fs, XP_011538981.1:p.His171fs

Select item 148192878320.

rs1481928783 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:34759841 (GRCh38)
1:35225442 (GRCh37)
Canonical SPDI:: NC_000001.11:34759840:C:G
Gene:: GJB4 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.34759841C>G, NC_000001.10:g.35225442C>G, NG_016243.1:g.5101C>G

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