SNP Links for Protein (Select 6631083) - SNP

Links from Protein

Items: 1 to 20 of 273

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Select item 14877391921.

rs1487739192 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:147759092 (GRCh38)
1:147231200 (GRCh37)
Canonical SPDI:: NC_000001.11:147759091:C:T
Gene:: GJA5 (Varview), LOC102723321 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.147759092C>T, NW_003871055.3:g.4574505C>T, NG_009369.2:g.19283G>A, NM_005266.7:c.147G>A, NM_005266.6:c.147G>A, NM_181703.4:c.147G>A, NM_181703.3:c.147G>A, NC_000001.10:g.147231200C>T

Select item 14874140052.

rs1487414005 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:147758434 (GRCh38)
1:147230542 (GRCh37)
Canonical SPDI:: NC_000001.11:147758433:G:A
Gene:: GJA5 (Varview), LOC102723321 (Varview)
Functional Consequence:: intron_variant,stop_gained,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000162/3 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
A=0.00067/3 (Estonian)
HGVS:: NC_000001.11:g.147758434G>A, NW_003871055.3:g.4573847G>A, NG_009369.2:g.19941C>T, NM_005266.7:c.805C>T, NM_005266.6:c.805C>T, NM_181703.4:c.805C>T, NM_181703.3:c.805C>T, NG_076440.1:g.154G>A, NC_000001.10:g.147230542G>A, NP_005257.2:p.Gln269Ter, NP_859054.1:p.Gln269Ter

Select item 14820271923.

rs1482027192 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:147759041 (GRCh38)
1:147231149 (GRCh37)
Canonical SPDI:: NC_000001.11:147759040:G:A
Gene:: GJA5 (Varview), LOC102723321 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_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_000001.11:g.147759041G>A, NW_003871055.3:g.4574454G>A, NG_009369.2:g.19334C>T, NM_005266.7:c.198C>T, NM_005266.6:c.198C>T, NM_181703.4:c.198C>T, NM_181703.3:c.198C>T, NC_000001.10:g.147231149G>A

Select item 14768544024.

rs1476854402 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:147758530 (GRCh38)
1:147230638 (GRCh37)
Canonical SPDI:: NC_000001.11:147758529:G:A
Gene:: GJA5 (Varview), LOC102723321 (Varview)
Functional Consequence:: stop_gained,intron_variant,coding_sequence_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000028/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.147758530G>A, NW_003871055.3:g.4573943G>A, NG_009369.2:g.19845C>T, NM_005266.7:c.709C>T, NM_005266.6:c.709C>T, NM_181703.4:c.709C>T, NM_181703.3:c.709C>T, NG_076440.1:g.250G>A, NC_000001.10:g.147230638G>A, NP_005257.2:p.Arg237Ter, NP_859054.1:p.Arg237Ter

Select item 14707572875.

rs1470757287 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:147758890 (GRCh38)
1:147230998 (GRCh37)
Canonical SPDI:: NC_000001.11:147758889:C:A
Gene:: GJA5 (Varview), LOC102723321 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.147758890C>A, NW_003871055.3:g.4574303C>A, NG_009369.2:g.19485G>T, NM_005266.7:c.349G>T, NM_005266.6:c.349G>T, NM_181703.4:c.349G>T, NM_181703.3:c.349G>T, NC_000001.10:g.147230998C>A, NP_005257.2:p.Val117Phe, NP_859054.1:p.Val117Phe

Select item 14630256516.

rs1463025651 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:147758903 (GRCh38)
1:147231011 (GRCh37)
Canonical SPDI:: NC_000001.11:147758902:C:T
Gene:: GJA5 (Varview), LOC102723321 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.147758903C>T, NW_003871055.3:g.4574316C>T, NG_009369.2:g.19472G>A, NM_005266.7:c.336G>A, NM_005266.6:c.336G>A, NM_181703.4:c.336G>A, NM_181703.3:c.336G>A, NC_000001.10:g.147231011C>T

Select item 14611778507.

rs1461177850 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:147758632 (GRCh38)
1:147230740 (GRCh37)
Canonical SPDI:: NC_000001.11:147758631:C:T
Gene:: GJA5 (Varview), LOC102723321 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000001.11:g.147758632C>T, NW_003871055.3:g.4574045C>T, NG_009369.2:g.19743G>A, NM_005266.7:c.607G>A, NM_005266.6:c.607G>A, NM_181703.4:c.607G>A, NM_181703.3:c.607G>A, NG_076440.1:g.352C>T, NC_000001.10:g.147230740C>T, NP_005257.2:p.Glu203Lys, NP_859054.1:p.Glu203Lys

Select item 14548562298.

rs1454856229 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 1:147758246 (GRCh38)
1:147230354 (GRCh37)
Canonical SPDI:: NC_000001.11:147758245:G:A,NC_000001.11:147758245:G:T
Gene:: GJA5 (Varview), LOC102723321 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000001.11:g.147758246G>A, NC_000001.11:g.147758246G>T, NW_003871055.3:g.4573659G>A, NW_003871055.3:g.4573659G>T, NG_009369.2:g.20129C>T, NG_009369.2:g.20129C>A, NM_005266.7:c.993C>T, NM_005266.7:c.993C>A, NM_005266.6:c.993C>T, NM_005266.6:c.993C>A, NM_181703.4:c.993C>T, NM_181703.4:c.993C>A, NM_181703.3:c.993C>T, NM_181703.3:c.993C>A, NC_000001.10:g.147230354G>A, NC_000001.10:g.147230354G>T, NP_005257.2:p.His331Gln, NP_859054.1:p.His331Gln

Select item 14540213979.

rs1454021397 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:147758346 (GRCh38)
1:147230454 (GRCh37)
Canonical SPDI:: NC_000001.11:147758345:G:C
Gene:: GJA5 (Varview), LOC102723321 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.147758346G>C, NW_003871055.3:g.4573759G>C, NG_009369.2:g.20029C>G, NM_005266.7:c.893C>G, NM_005266.6:c.893C>G, NM_181703.4:c.893C>G, NM_181703.3:c.893C>G, NG_076440.1:g.66G>C, NC_000001.10:g.147230454G>C, NP_005257.2:p.Thr298Ser, NP_859054.1:p.Thr298Ser

Select item 144677449610.

rs1446774496 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:147759017 (GRCh38)
1:147231125 (GRCh37)
Canonical SPDI:: NC_000001.11:147759016:G:A
Gene:: GJA5 (Varview), LOC102723321 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.147759017G>A, NW_003871055.3:g.4574430G>A, NG_009369.2:g.19358C>T, NM_005266.7:c.222C>T, NM_005266.6:c.222C>T, NM_181703.4:c.222C>T, NM_181703.3:c.222C>T, NC_000001.10:g.147231125G>A

Select item 143869851211.

rs1438698512 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:147758783 (GRCh38)
1:147230891 (GRCh37)
Canonical SPDI:: NC_000001.11:147758782:G:A
Gene:: GJA5 (Varview), LOC102723321 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000015/4 (TOPMED)
HGVS:: NC_000001.11:g.147758783G>A, NW_003871055.3:g.4574196G>A, NG_009369.2:g.19592C>T, NM_005266.7:c.456C>T, NM_005266.6:c.456C>T, NM_181703.4:c.456C>T, NM_181703.3:c.456C>T, NC_000001.10:g.147230891G>A

Select item 142695144612.

rs1426951446 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 1:147759185 (GRCh38)
1:147231293 (GRCh37)
Canonical SPDI:: NC_000001.11:147759184:C:A,NC_000001.11:147759184:C:G,NC_000001.11:147759184:C:T
Gene:: GJA5 (Varview), LOC102723321 (Varview)
Functional Consequence:: synonymous_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000001.11:g.147759185C>A, NC_000001.11:g.147759185C>G, NC_000001.11:g.147759185C>T, NW_003871055.3:g.4574598C>A, NW_003871055.3:g.4574598C>G, NW_003871055.3:g.4574598C>T, NG_009369.2:g.19190G>T, NG_009369.2:g.19190G>C, NG_009369.2:g.19190G>A, NM_005266.7:c.54G>T, NM_005266.7:c.54G>C, NM_005266.7:c.54G>A, NM_005266.6:c.54G>T, NM_005266.6:c.54G>C, NM_005266.6:c.54G>A, NM_181703.4:c.54G>T, NM_181703.4:c.54G>C, NM_181703.4:c.54G>A, NM_181703.3:c.54G>T, NM_181703.3:c.54G>C, NM_181703.3:c.54G>A, NC_000001.10:g.147231293C>A, NC_000001.10:g.147231293C>G, NC_000001.10:g.147231293C>T

Select item 141746358413.

rs1417463584 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:147758414 (GRCh38)
1:147230522 (GRCh37)
Canonical SPDI:: NC_000001.11:147758413:A:G
Gene:: GJA5 (Varview), LOC102723321 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_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_000001.11:g.147758414A>G, NW_003871055.3:g.4573827A>G, NG_009369.2:g.19961T>C, NM_005266.7:c.825T>C, NM_005266.6:c.825T>C, NM_181703.4:c.825T>C, NM_181703.3:c.825T>C, NG_076440.1:g.134A>G, NC_000001.10:g.147230522A>G

Select item 141393587614.

rs1413935876 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:147758877 (GRCh38)
1:147230985 (GRCh37)
Canonical SPDI:: NC_000001.11:147758876:C:T
Gene:: GJA5 (Varview), LOC102723321 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.147758877C>T, NW_003871055.3:g.4574290C>T, NG_009369.2:g.19498G>A, NM_005266.7:c.362G>A, NM_005266.6:c.362G>A, NM_181703.4:c.362G>A, NM_181703.3:c.362G>A, NC_000001.10:g.147230985C>T, NP_005257.2:p.Gly121Asp, NP_859054.1:p.Gly121Asp

Select item 141028540815.

rs1410285408 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:147758682 (GRCh38)
1:147230790 (GRCh37)
Canonical SPDI:: NC_000001.11:147758681:C:A
Gene:: GJA5 (Varview), LOC102723321 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_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_000001.11:g.147758682C>A, NW_003871055.3:g.4574095C>A, NG_009369.2:g.19693G>T, NM_005266.7:c.557G>T, NM_005266.6:c.557G>T, NM_181703.4:c.557G>T, NM_181703.3:c.557G>T, NG_076440.1:g.402C>A, NC_000001.10:g.147230790C>A, NP_005257.2:p.Arg186Leu, NP_859054.1:p.Arg186Leu

Select item 140148411616.

rs1401484116 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 1:147758989 (GRCh38)
1:147231097 (GRCh37)
Canonical SPDI:: NC_000001.11:147758988:A:T
Gene:: GJA5 (Varview), LOC102723321 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.147758989A>T, NW_003871055.3:g.4574402A>T, NG_009369.2:g.19386T>A, NM_005266.7:c.250T>A, NM_005266.6:c.250T>A, NM_181703.4:c.250T>A, NM_181703.3:c.250T>A, NC_000001.10:g.147231097A>T, NP_005257.2:p.Phe84Ile, NP_859054.1:p.Phe84Ile

Select item 140065079517.

rs1400650795 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:147759177 (GRCh38)
1:147231285 (GRCh37)
Canonical SPDI:: NC_000001.11:147759176:A:G
Gene:: GJA5 (Varview), LOC102723321 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000001.11:g.147759177A>G, NW_003871055.3:g.4574590A>G, NG_009369.2:g.19198T>C, NM_005266.7:c.62T>C, NM_005266.6:c.62T>C, NM_181703.4:c.62T>C, NM_181703.3:c.62T>C, NC_000001.10:g.147231285A>G, NP_005257.2:p.Val21Ala, NP_859054.1:p.Val21Ala

Select item 139778988618.

rs1397789886 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:147758469 (GRCh38)
1:147230577 (GRCh37)
Canonical SPDI:: NC_000001.11:147758468:A:G
Gene:: GJA5 (Varview), LOC102723321 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000023/6 (TOPMED)
HGVS:: NC_000001.11:g.147758469A>G, NW_003871055.3:g.4573882A>G, NG_009369.2:g.19906T>C, NM_005266.7:c.770T>C, NM_005266.6:c.770T>C, NM_181703.4:c.770T>C, NM_181703.3:c.770T>C, NG_076440.1:g.189A>G, NC_000001.10:g.147230577A>G, NP_005257.2:p.Ile257Thr, NP_859054.1:p.Ile257Thr

Select item 139571278619.

rs1395712786 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:147758704 (GRCh38)
1:147230812 (GRCh37)
Canonical SPDI:: NC_000001.11:147758703:G:A
Gene:: GJA5 (Varview), LOC102723321 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000054/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000223/1 (Estonian)
HGVS:: NC_000001.11:g.147758704G>A, NW_003871055.3:g.4574117G>A, NG_009369.2:g.19671C>T, NM_005266.7:c.535C>T, NM_005266.6:c.535C>T, NM_181703.4:c.535C>T, NM_181703.3:c.535C>T, NG_076440.1:g.424G>A, NC_000001.10:g.147230812G>A

Select item 139119491920.

rs1391194919 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:147758226 (GRCh38)
1:147230334 (GRCh37)
Canonical SPDI:: NC_000001.11:147758225:T:C
Gene:: GJA5 (Varview), LOC102723321 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.147758226T>C, NW_003871055.3:g.4573639T>C, NG_009369.2:g.20149A>G, NM_005266.7:c.1013A>G, NM_005266.6:c.1013A>G, NM_181703.4:c.1013A>G, NM_181703.3:c.1013A>G, NC_000001.10:g.147230334T>C, NP_005257.2:p.His338Arg, NP_859054.1:p.His338Arg

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