SNP Links for Protein (Select 937834186) - SNP

Links from Protein

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Select item 14909964311.

rs1490996431 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G,T [Show Flanks]
Chromosome:: 2:172487755 (GRCh38)
2:173352483 (GRCh37)
Canonical SPDI:: NC_000002.12:172487754:A:C,NC_000002.12:172487754:A:G,NC_000002.12:172487754:A:T
Gene:: ITGA6 (Varview), LOC124900513 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,downstream_transcript_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000007/1 (GnomAD)
G=0.00006/1 (TOMMO)
HGVS:: NC_000002.12:g.172487755A>C, NC_000002.12:g.172487755A>G, NC_000002.12:g.172487755A>T, NC_000002.11:g.173352483A>C, NC_000002.11:g.173352483A>G, NC_000002.11:g.173352483A>T, NG_008853.1:g.65170A>C, NG_008853.1:g.65170A>G, NG_008853.1:g.65170A>T, NM_000210.4:c.2272A>C, NM_000210.4:c.2272A>G, NM_000210.4:c.2272A>T, NM_000210.3:c.2272A>C, NM_000210.3:c.2272A>G, NM_000210.3:c.2272A>T, NM_000210.2:c.2272A>C, NM_000210.2:c.2272A>G, NM_000210.2:c.2272A>T, NM_001079818.3:c.2272A>C, NM_001079818.3:c.2272A>G, NM_001079818.3:c.2272A>T, NM_001079818.2:c.2272A>C, NM_001079818.2:c.2272A>G, NM_001079818.2:c.2272A>T, NM_001079818.1:c.2272A>C, NM_001079818.1:c.2272A>G, NM_001079818.1:c.2272A>T, NM_001365530.2:c.2272A>C, NM_001365530.2:c.2272A>G, NM_001365530.2:c.2272A>T, NM_001365530.1:c.2272A>C, NM_001365530.1:c.2272A>G, NM_001365530.1:c.2272A>T, NM_001365529.2:c.2272A>C, NM_001365529.2:c.2272A>G, NM_001365529.2:c.2272A>T, NM_001365529.1:c.2272A>C, NM_001365529.1:c.2272A>G, NM_001365529.1:c.2272A>T, NM_001316306.2:c.1915A>C, NM_001316306.2:c.1915A>G, NM_001316306.2:c.1915A>T, NM_001316306.1:c.1915A>C, NM_001316306.1:c.1915A>G, NM_001316306.1:c.1915A>T, NM_001394928.1:c.2389A>C, NM_001394928.1:c.2389A>G, NM_001394928.1:c.2389A>T, XM_017004005.2:c.1930A>C, XM_017004005.2:c.1930A>G, XM_017004005.2:c.1930A>T, XM_017004005.1:c.1930A>C, XM_017004005.1:c.1930A>G, XM_017004005.1:c.1930A>T, XM_017004006.2:c.1930A>C, XM_017004006.2:c.1930A>G, XM_017004006.2:c.1930A>T, XM_017004006.1:c.1930A>C, XM_017004006.1:c.1930A>G, XM_017004006.1:c.1930A>T, XM_047444221.1:c.1930A>C, XM_047444221.1:c.1930A>G, XM_047444221.1:c.1930A>T, XM_047444222.1:c.1930A>C, XM_047444222.1:c.1930A>G, XM_047444222.1:c.1930A>T, NP_000201.2:p.Thr758Pro, NP_000201.2:p.Thr758Ala, NP_000201.2:p.Thr758Ser, NP_001073286.1:p.Thr758Pro, NP_001073286.1:p.Thr758Ala, NP_001073286.1:p.Thr758Ser, NP_001352459.1:p.Thr758Pro, NP_001352459.1:p.Thr758Ala, NP_001352459.1:p.Thr758Ser, NP_001352458.1:p.Thr758Pro, NP_001352458.1:p.Thr758Ala, NP_001352458.1:p.Thr758Ser, NP_001303235.1:p.Thr639Pro, NP_001303235.1:p.Thr639Ala, NP_001303235.1:p.Thr639Ser, NP_001381857.1:p.Thr797Pro, NP_001381857.1:p.Thr797Ala, NP_001381857.1:p.Thr797Ser, XP_016859494.1:p.Thr644Pro, XP_016859494.1:p.Thr644Ala, XP_016859494.1:p.Thr644Ser, XP_016859495.1:p.Thr644Pro, XP_016859495.1:p.Thr644Ala, XP_016859495.1:p.Thr644Ser, XP_047300177.1:p.Thr644Pro, XP_047300177.1:p.Thr644Ala, XP_047300177.1:p.Thr644Ser, XP_047300178.1:p.Thr644Pro, XP_047300178.1:p.Thr644Ala, XP_047300178.1:p.Thr644Ser

Select item 14906444122.

rs1490644412 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 2:172484892 (GRCh38)
2:173349620 (GRCh37)
Canonical SPDI:: NC_000002.12:172484891:C:A,NC_000002.12:172484891:C:G,NC_000002.12:172484891:C:T
Gene:: ITGA6 (Varview), LOC124900513 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
G=0.000035/1 (TOMMO)
HGVS:: NC_000002.12:g.172484892C>A, NC_000002.12:g.172484892C>G, NC_000002.12:g.172484892C>T, NC_000002.11:g.173349620C>A, NC_000002.11:g.173349620C>G, NC_000002.11:g.173349620C>T, NG_008853.1:g.62307C>A, NG_008853.1:g.62307C>G, NG_008853.1:g.62307C>T, NM_000210.4:c.1660C>A, NM_000210.4:c.1660C>G, NM_000210.4:c.1660C>T, NM_000210.3:c.1660C>A, NM_000210.3:c.1660C>G, NM_000210.3:c.1660C>T, NM_000210.2:c.1660C>A, NM_000210.2:c.1660C>G, NM_000210.2:c.1660C>T, NM_001079818.3:c.1660C>A, NM_001079818.3:c.1660C>G, NM_001079818.3:c.1660C>T, NM_001079818.2:c.1660C>A, NM_001079818.2:c.1660C>G, NM_001079818.2:c.1660C>T, NM_001079818.1:c.1660C>A, NM_001079818.1:c.1660C>G, NM_001079818.1:c.1660C>T, NM_001365530.2:c.1660C>A, NM_001365530.2:c.1660C>G, NM_001365530.2:c.1660C>T, NM_001365530.1:c.1660C>A, NM_001365530.1:c.1660C>G, NM_001365530.1:c.1660C>T, NM_001365529.2:c.1660C>A, NM_001365529.2:c.1660C>G, NM_001365529.2:c.1660C>T, NM_001365529.1:c.1660C>A, NM_001365529.1:c.1660C>G, NM_001365529.1:c.1660C>T, NM_001316306.2:c.1303C>A, NM_001316306.2:c.1303C>G, NM_001316306.2:c.1303C>T, NM_001316306.1:c.1303C>A, NM_001316306.1:c.1303C>G, NM_001316306.1:c.1303C>T, NM_001394928.1:c.1777C>A, NM_001394928.1:c.1777C>G, NM_001394928.1:c.1777C>T, XM_017004005.2:c.1318C>A, XM_017004005.2:c.1318C>G, XM_017004005.2:c.1318C>T, XM_017004005.1:c.1318C>A, XM_017004005.1:c.1318C>G, XM_017004005.1:c.1318C>T, XM_017004006.2:c.1318C>A, XM_017004006.2:c.1318C>G, XM_017004006.2:c.1318C>T, XM_017004006.1:c.1318C>A, XM_017004006.1:c.1318C>G, XM_017004006.1:c.1318C>T, XM_047444221.1:c.1318C>A, XM_047444221.1:c.1318C>G, XM_047444221.1:c.1318C>T, XM_047444222.1:c.1318C>A, XM_047444222.1:c.1318C>G, XM_047444222.1:c.1318C>T, NP_000201.2:p.Leu554Met, NP_000201.2:p.Leu554Val, NP_001073286.1:p.Leu554Met, NP_001073286.1:p.Leu554Val, NP_001352459.1:p.Leu554Met, NP_001352459.1:p.Leu554Val, NP_001352458.1:p.Leu554Met, NP_001352458.1:p.Leu554Val, NP_001303235.1:p.Leu435Met, NP_001303235.1:p.Leu435Val, NP_001381857.1:p.Leu593Met, NP_001381857.1:p.Leu593Val, XP_016859494.1:p.Leu440Met, XP_016859494.1:p.Leu440Val, XP_016859495.1:p.Leu440Met, XP_016859495.1:p.Leu440Val, XP_047300177.1:p.Leu440Met, XP_047300177.1:p.Leu440Val, XP_047300178.1:p.Leu440Met, XP_047300178.1:p.Leu440Val

Select item 14901204463.

rs1490120446 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 2:172487363 (GRCh38)
2:173352091 (GRCh37)
Canonical SPDI:: NC_000002.12:172487362:A:C
Gene:: ITGA6 (Varview), LOC124900513 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000002.12:g.172487363A>C, NC_000002.11:g.173352091A>C, NG_008853.1:g.64778A>C, NM_000210.4:c.2070A>C, NM_000210.3:c.2070A>C, NM_000210.2:c.2070A>C, NM_001079818.3:c.2070A>C, NM_001079818.2:c.2070A>C, NM_001079818.1:c.2070A>C, NM_001365530.2:c.2070A>C, NM_001365530.1:c.2070A>C, NM_001365529.2:c.2070A>C, NM_001365529.1:c.2070A>C, NM_001316306.2:c.1713A>C, NM_001316306.1:c.1713A>C, NM_001394928.1:c.2187A>C, XM_017004005.2:c.1728A>C, XM_017004005.1:c.1728A>C, XM_017004006.2:c.1728A>C, XM_017004006.1:c.1728A>C, XM_047444221.1:c.1728A>C, XM_047444222.1:c.1728A>C, NP_000201.2:p.Lys690Asn, NP_001073286.1:p.Lys690Asn, NP_001352459.1:p.Lys690Asn, NP_001352458.1:p.Lys690Asn, NP_001303235.1:p.Lys571Asn, NP_001381857.1:p.Lys729Asn, XP_016859494.1:p.Lys576Asn, XP_016859495.1:p.Lys576Asn, XP_047300177.1:p.Lys576Asn, XP_047300178.1:p.Lys576Asn

Select item 14889731234.

rs1488973123 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:172487088 (GRCh38)
2:173351816 (GRCh37)
Canonical SPDI:: NC_000002.12:172487087:T:C
Gene:: ITGA6 (Varview), LOC124900513 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000021/3 (GnomAD)
C=0.00003/8 (TOPMED)
HGVS:: NC_000002.12:g.172487088T>C, NC_000002.11:g.173351816T>C, NG_008853.1:g.64503T>C, NM_000210.4:c.1920T>C, NM_000210.3:c.1920T>C, NM_000210.2:c.1920T>C, NM_001079818.3:c.1920T>C, NM_001079818.2:c.1920T>C, NM_001079818.1:c.1920T>C, NM_001365530.2:c.1920T>C, NM_001365530.1:c.1920T>C, NM_001365529.2:c.1920T>C, NM_001365529.1:c.1920T>C, NM_001316306.2:c.1563T>C, NM_001316306.1:c.1563T>C, NM_001394928.1:c.2037T>C, XM_017004005.2:c.1578T>C, XM_017004005.1:c.1578T>C, XM_017004006.2:c.1578T>C, XM_017004006.1:c.1578T>C, XM_047444221.1:c.1578T>C, XM_047444222.1:c.1578T>C

Select item 14857925065.

rs1485792506 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:172491491 (GRCh38)
2:173356219 (GRCh37)
Canonical SPDI:: NC_000002.12:172491490:G:A
Gene:: ITGA6 (Varview), LOC124900513 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000015/4 (TOPMED)
HGVS:: NC_000002.12:g.172491491G>A, NC_000002.11:g.173356219G>A, NG_008853.1:g.68906G>A, NM_000210.4:c.2956G>A, NM_000210.3:c.2956G>A, NM_000210.2:c.2956G>A, NM_001079818.3:c.2956G>A, NM_001079818.2:c.2956G>A, NM_001079818.1:c.2956G>A, NM_001365530.2:c.2911G>A, NM_001365530.1:c.2911G>A, NM_001365529.2:c.2911G>A, NM_001365529.1:c.2911G>A, NM_001316306.2:c.2599G>A, NM_001316306.1:c.2599G>A, NM_001394928.1:c.3073G>A, XM_017004005.2:c.2614G>A, XM_017004005.1:c.2614G>A, XM_017004006.2:c.2569G>A, XM_017004006.1:c.2569G>A, XR_007087302.1:n.4587C>T, XR_007087305.1:n.5404C>T, XR_007087306.1:n.5231C>T, XR_007087298.1:n.4682C>T, XM_047444221.1:c.2614G>A, XM_047444222.1:c.2569G>A, XR_007087300.1:n.884C>T, NP_000201.2:p.Glu986Lys, NP_001073286.1:p.Glu986Lys, NP_001352459.1:p.Glu971Lys, NP_001352458.1:p.Glu971Lys, NP_001303235.1:p.Glu867Lys, NP_001381857.1:p.Glu1025Lys, XP_016859494.1:p.Glu872Lys, XP_016859495.1:p.Glu857Lys, XP_047300177.1:p.Glu872Lys, XP_047300178.1:p.Glu857Lys

Select item 14856209686.

rs1485620968 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:172491260 (GRCh38)
2:173355988 (GRCh37)
Canonical SPDI:: NC_000002.12:172491259:C:T
Gene:: ITGA6 (Varview), LOC124900513 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.172491260C>T, NC_000002.11:g.173355988C>T, NG_008853.1:g.68675C>T, NM_000210.4:c.2818C>T, NM_000210.3:c.2818C>T, NM_000210.2:c.2818C>T, NM_001079818.3:c.2818C>T, NM_001079818.2:c.2818C>T, NM_001079818.1:c.2818C>T, NM_001365530.2:c.2773C>T, NM_001365530.1:c.2773C>T, NM_001365529.2:c.2773C>T, NM_001365529.1:c.2773C>T, NM_001316306.2:c.2461C>T, NM_001316306.1:c.2461C>T, NM_001394928.1:c.2935C>T, XM_017004005.2:c.2476C>T, XM_017004005.1:c.2476C>T, XM_017004006.2:c.2431C>T, XM_017004006.1:c.2431C>T, XR_007087302.1:n.4818G>A, XR_007087305.1:n.5635G>A, XR_007087306.1:n.5462G>A, XR_007087298.1:n.4913G>A, XM_047444221.1:c.2476C>T, XM_047444222.1:c.2431C>T, XR_007087300.1:n.1115G>A, NP_000201.2:p.Pro940Ser, NP_001073286.1:p.Pro940Ser, NP_001352459.1:p.Pro925Ser, NP_001352458.1:p.Pro925Ser, NP_001303235.1:p.Pro821Ser, NP_001381857.1:p.Pro979Ser, XP_016859494.1:p.Pro826Ser, XP_016859495.1:p.Pro811Ser, XP_047300177.1:p.Pro826Ser, XP_047300178.1:p.Pro811Ser

Select item 14852583757.

rs1485258375 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 2:172474951 (GRCh38)
2:173339679 (GRCh37)
Canonical SPDI:: NC_000002.12:172474950:G:T
Gene:: ITGA6 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000002.12:g.172474951G>T, NC_000002.11:g.173339679G>T, NG_008853.1:g.52366G>T, NM_000210.4:c.1009G>T, NM_000210.3:c.1009G>T, NM_000210.2:c.1009G>T, NM_001079818.3:c.1009G>T, NM_001079818.2:c.1009G>T, NM_001079818.1:c.1009G>T, NM_001365530.2:c.1009G>T, NM_001365530.1:c.1009G>T, NM_001365529.2:c.1009G>T, NM_001365529.1:c.1009G>T, NM_001316306.2:c.652G>T, NM_001316306.1:c.652G>T, NM_001394928.1:c.1126G>T, XM_017004005.2:c.667G>T, XM_017004005.1:c.667G>T, XM_017004006.2:c.667G>T, XM_017004006.1:c.667G>T, XM_047444221.1:c.667G>T, XM_047444222.1:c.667G>T, NP_000201.2:p.Ala337Ser, NP_001073286.1:p.Ala337Ser, NP_001352459.1:p.Ala337Ser, NP_001352458.1:p.Ala337Ser, NP_001303235.1:p.Ala218Ser, NP_001381857.1:p.Ala376Ser, XP_016859494.1:p.Ala223Ser, XP_016859495.1:p.Ala223Ser, XP_047300177.1:p.Ala223Ser, XP_047300178.1:p.Ala223Ser

Select item 14851002958.

rs1485100295 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:172501875 (GRCh38)
2:173366603 (GRCh37)
Canonical SPDI:: NC_000002.12:172501874:C:G
Gene:: ITGA6 (Varview), LOC124900513 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.172501875C>G, NC_000002.11:g.173366603C>G, NG_008853.1:g.79290C>G, NM_000210.4:c.3218C>G, NM_000210.3:c.3218C>G, NM_000210.2:c.3218C>G, NM_001365530.2:c.3173C>G, NM_001365530.1:c.3173C>G, NM_001316306.2:c.2861C>G, NM_001316306.1:c.2861C>G, XM_047444221.1:c.2876C>G, XM_047444222.1:c.2831C>G, NP_000201.2:p.Ala1073Gly, NP_001352459.1:p.Ala1058Gly, NP_001303235.1:p.Ala954Gly, XP_047300177.1:p.Ala959Gly, XP_047300178.1:p.Ala944Gly

Select item 14823999049.

rs1482399904 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:172474101 (GRCh38)
2:173338829 (GRCh37)
Canonical SPDI:: NC_000002.12:172474100:C:G
Gene:: ITGA6 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000002.12:g.172474101C>G, NC_000002.11:g.173338829C>G, NG_008853.1:g.51516C>G, NM_000210.4:c.822C>G, NM_000210.3:c.822C>G, NM_000210.2:c.822C>G, NM_001079818.3:c.822C>G, NM_001079818.2:c.822C>G, NM_001079818.1:c.822C>G, NM_001365530.2:c.822C>G, NM_001365530.1:c.822C>G, NM_001365529.2:c.822C>G, NM_001365529.1:c.822C>G, NM_001316306.2:c.465C>G, NM_001316306.1:c.465C>G, NM_001394928.1:c.939C>G, XM_017004005.2:c.480C>G, XM_017004005.1:c.480C>G, XM_017004006.2:c.480C>G, XM_017004006.1:c.480C>G, XM_047444221.1:c.480C>G, XM_047444222.1:c.480C>G, NP_000201.2:p.Ile274Met, NP_001073286.1:p.Ile274Met, NP_001352459.1:p.Ile274Met, NP_001352458.1:p.Ile274Met, NP_001303235.1:p.Ile155Met, NP_001381857.1:p.Ile313Met, XP_016859494.1:p.Ile160Met, XP_016859495.1:p.Ile160Met, XP_047300177.1:p.Ile160Met, XP_047300178.1:p.Ile160Met

Select item 148183525310.

rs1481835253 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 2:172491249 (GRCh38)
2:173355977 (GRCh37)
Canonical SPDI:: NC_000002.12:172491248:A:C
Gene:: ITGA6 (Varview), LOC124900513 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
HGVS:: NC_000002.12:g.172491249A>C, NC_000002.11:g.173355977A>C, NG_008853.1:g.68664A>C, NM_000210.4:c.2807A>C, NM_000210.3:c.2807A>C, NM_000210.2:c.2807A>C, NM_001079818.3:c.2807A>C, NM_001079818.2:c.2807A>C, NM_001079818.1:c.2807A>C, NM_001365530.2:c.2762A>C, NM_001365530.1:c.2762A>C, NM_001365529.2:c.2762A>C, NM_001365529.1:c.2762A>C, NM_001316306.2:c.2450A>C, NM_001316306.1:c.2450A>C, NM_001394928.1:c.2924A>C, XM_017004005.2:c.2465A>C, XM_017004005.1:c.2465A>C, XM_017004006.2:c.2420A>C, XM_017004006.1:c.2420A>C, XR_007087302.1:n.4829T>G, XR_007087305.1:n.5646T>G, XR_007087306.1:n.5473T>G, XR_007087298.1:n.4924T>G, XM_047444221.1:c.2465A>C, XM_047444222.1:c.2420A>C, XR_007087300.1:n.1126T>G, NP_000201.2:p.Asn936Thr, NP_001073286.1:p.Asn936Thr, NP_001352459.1:p.Asn921Thr, NP_001352458.1:p.Asn921Thr, NP_001303235.1:p.Asn817Thr, NP_001381857.1:p.Asn975Thr, XP_016859494.1:p.Asn822Thr, XP_016859495.1:p.Asn807Thr, XP_047300177.1:p.Asn822Thr, XP_047300178.1:p.Asn807Thr

Select item 148121805611.

rs1481218056 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 2:172487042 (GRCh38)
2:173351770 (GRCh37)
Canonical SPDI:: NC_000002.12:172487041:G:A,NC_000002.12:172487041:G:T
Gene:: ITGA6 (Varview), LOC124900513 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000031/1 (ALFA)
T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000002.12:g.172487042G>A, NC_000002.12:g.172487042G>T, NC_000002.11:g.173351770G>A, NC_000002.11:g.173351770G>T, NG_008853.1:g.64457G>A, NG_008853.1:g.64457G>T, NM_000210.4:c.1874G>A, NM_000210.4:c.1874G>T, NM_000210.3:c.1874G>A, NM_000210.3:c.1874G>T, NM_000210.2:c.1874G>A, NM_000210.2:c.1874G>T, NM_001079818.3:c.1874G>A, NM_001079818.3:c.1874G>T, NM_001079818.2:c.1874G>A, NM_001079818.2:c.1874G>T, NM_001079818.1:c.1874G>A, NM_001079818.1:c.1874G>T, NM_001365530.2:c.1874G>A, NM_001365530.2:c.1874G>T, NM_001365530.1:c.1874G>A, NM_001365530.1:c.1874G>T, NM_001365529.2:c.1874G>A, NM_001365529.2:c.1874G>T, NM_001365529.1:c.1874G>A, NM_001365529.1:c.1874G>T, NM_001316306.2:c.1517G>A, NM_001316306.2:c.1517G>T, NM_001316306.1:c.1517G>A, NM_001316306.1:c.1517G>T, NM_001394928.1:c.1991G>A, NM_001394928.1:c.1991G>T, XM_017004005.2:c.1532G>A, XM_017004005.2:c.1532G>T, XM_017004005.1:c.1532G>A, XM_017004005.1:c.1532G>T, XM_017004006.2:c.1532G>A, XM_017004006.2:c.1532G>T, XM_017004006.1:c.1532G>A, XM_017004006.1:c.1532G>T, XM_047444221.1:c.1532G>A, XM_047444221.1:c.1532G>T, XM_047444222.1:c.1532G>A, XM_047444222.1:c.1532G>T, NP_000201.2:p.Gly625Glu, NP_000201.2:p.Gly625Val, NP_001073286.1:p.Gly625Glu, NP_001073286.1:p.Gly625Val, NP_001352459.1:p.Gly625Glu, NP_001352459.1:p.Gly625Val, NP_001352458.1:p.Gly625Glu, NP_001352458.1:p.Gly625Val, NP_001303235.1:p.Gly506Glu, NP_001303235.1:p.Gly506Val, NP_001381857.1:p.Gly664Glu, NP_001381857.1:p.Gly664Val, XP_016859494.1:p.Gly511Glu, XP_016859494.1:p.Gly511Val, XP_016859495.1:p.Gly511Glu, XP_016859495.1:p.Gly511Val, XP_047300177.1:p.Gly511Glu, XP_047300177.1:p.Gly511Val, XP_047300178.1:p.Gly511Glu, XP_047300178.1:p.Gly511Val

Select item 148023465512.

rs1480234655 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 2:172484914 (GRCh38)
2:173349642 (GRCh37)
Canonical SPDI:: NC_000002.12:172484913:T:A,NC_000002.12:172484913:T:C
Gene:: ITGA6 (Varview), LOC124900513 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
C=0.000035/1 (TOMMO)
HGVS:: NC_000002.12:g.172484914T>A, NC_000002.12:g.172484914T>C, NC_000002.11:g.173349642T>A, NC_000002.11:g.173349642T>C, NG_008853.1:g.62329T>A, NG_008853.1:g.62329T>C, NM_000210.4:c.1682T>A, NM_000210.4:c.1682T>C, NM_000210.3:c.1682T>A, NM_000210.3:c.1682T>C, NM_000210.2:c.1682T>A, NM_000210.2:c.1682T>C, NM_001079818.3:c.1682T>A, NM_001079818.3:c.1682T>C, NM_001079818.2:c.1682T>A, NM_001079818.2:c.1682T>C, NM_001079818.1:c.1682T>A, NM_001079818.1:c.1682T>C, NM_001365530.2:c.1682T>A, NM_001365530.2:c.1682T>C, NM_001365530.1:c.1682T>A, NM_001365530.1:c.1682T>C, NM_001365529.2:c.1682T>A, NM_001365529.2:c.1682T>C, NM_001365529.1:c.1682T>A, NM_001365529.1:c.1682T>C, NM_001316306.2:c.1325T>A, NM_001316306.2:c.1325T>C, NM_001316306.1:c.1325T>A, NM_001316306.1:c.1325T>C, NM_001394928.1:c.1799T>A, NM_001394928.1:c.1799T>C, XM_017004005.2:c.1340T>A, XM_017004005.2:c.1340T>C, XM_017004005.1:c.1340T>A, XM_017004005.1:c.1340T>C, XM_017004006.2:c.1340T>A, XM_017004006.2:c.1340T>C, XM_017004006.1:c.1340T>A, XM_017004006.1:c.1340T>C, XM_047444221.1:c.1340T>A, XM_047444221.1:c.1340T>C, XM_047444222.1:c.1340T>A, XM_047444222.1:c.1340T>C, NP_000201.2:p.Val561Glu, NP_000201.2:p.Val561Ala, NP_001073286.1:p.Val561Glu, NP_001073286.1:p.Val561Ala, NP_001352459.1:p.Val561Glu, NP_001352459.1:p.Val561Ala, NP_001352458.1:p.Val561Glu, NP_001352458.1:p.Val561Ala, NP_001303235.1:p.Val442Glu, NP_001303235.1:p.Val442Ala, NP_001381857.1:p.Val600Glu, NP_001381857.1:p.Val600Ala, XP_016859494.1:p.Val447Glu, XP_016859494.1:p.Val447Ala, XP_016859495.1:p.Val447Glu, XP_016859495.1:p.Val447Ala, XP_047300177.1:p.Val447Glu, XP_047300177.1:p.Val447Ala, XP_047300178.1:p.Val447Glu, XP_047300178.1:p.Val447Ala

Select item 147919043213.

rs1479190432 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:172488014 (GRCh38)
2:173352742 (GRCh37)
Canonical SPDI:: NC_000002.12:172488013:T:C
Gene:: ITGA6 (Varview), LOC124900513 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,downstream_transcript_variant,missense_variant,intron_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.172488014T>C, NC_000002.11:g.173352742T>C, NG_008853.1:g.65429T>C, NM_000210.4:c.2378T>C, NM_000210.3:c.2378T>C, NM_000210.2:c.2378T>C, NM_001079818.3:c.2378T>C, NM_001079818.2:c.2378T>C, NM_001079818.1:c.2378T>C, NM_001365530.2:c.2378T>C, NM_001365530.1:c.2378T>C, NM_001365529.2:c.2378T>C, NM_001365529.1:c.2378T>C, NM_001316306.2:c.2021T>C, NM_001316306.1:c.2021T>C, NM_001394928.1:c.2495T>C, XM_017004005.2:c.2036T>C, XM_017004005.1:c.2036T>C, XM_017004006.2:c.2036T>C, XM_017004006.1:c.2036T>C, XM_047444221.1:c.2036T>C, XM_047444222.1:c.2036T>C, NP_000201.2:p.Ile793Thr, NP_001073286.1:p.Ile793Thr, NP_001352459.1:p.Ile793Thr, NP_001352458.1:p.Ile793Thr, NP_001303235.1:p.Ile674Thr, NP_001381857.1:p.Ile832Thr, XP_016859494.1:p.Ile679Thr, XP_016859495.1:p.Ile679Thr, XP_047300177.1:p.Ile679Thr, XP_047300178.1:p.Ile679Thr

Select item 147817935514.

rs1478179355 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:172487351 (GRCh38)
2:173352079 (GRCh37)
Canonical SPDI:: NC_000002.12:172487350:G:A
Gene:: ITGA6 (Varview), LOC124900513 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,synonymous_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_000002.12:g.172487351G>A, NC_000002.11:g.173352079G>A, NG_008853.1:g.64766G>A, NM_000210.4:c.2058G>A, NM_000210.3:c.2058G>A, NM_000210.2:c.2058G>A, NM_001079818.3:c.2058G>A, NM_001079818.2:c.2058G>A, NM_001079818.1:c.2058G>A, NM_001365530.2:c.2058G>A, NM_001365530.1:c.2058G>A, NM_001365529.2:c.2058G>A, NM_001365529.1:c.2058G>A, NM_001316306.2:c.1701G>A, NM_001316306.1:c.1701G>A, NM_001394928.1:c.2175G>A, XM_017004005.2:c.1716G>A, XM_017004005.1:c.1716G>A, XM_017004006.2:c.1716G>A, XM_017004006.1:c.1716G>A, XM_047444221.1:c.1716G>A, XM_047444222.1:c.1716G>A

Select item 147795129515.

rs1477951295 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:172479690 (GRCh38)
2:173344418 (GRCh37)
Canonical SPDI:: NC_000002.12:172479689:A:G
Gene:: ITGA6 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.172479690A>G, NC_000002.11:g.173344418A>G, NG_008853.1:g.57105A>G, NM_000210.4:c.1438A>G, NM_000210.3:c.1438A>G, NM_000210.2:c.1438A>G, NM_001079818.3:c.1438A>G, NM_001079818.2:c.1438A>G, NM_001079818.1:c.1438A>G, NM_001365530.2:c.1438A>G, NM_001365530.1:c.1438A>G, NM_001365529.2:c.1438A>G, NM_001365529.1:c.1438A>G, NM_001316306.2:c.1081A>G, NM_001316306.1:c.1081A>G, NM_001394928.1:c.1555A>G, XM_017004005.2:c.1096A>G, XM_017004005.1:c.1096A>G, XM_017004006.2:c.1096A>G, XM_017004006.1:c.1096A>G, XM_047444221.1:c.1096A>G, XM_047444222.1:c.1096A>G, NP_000201.2:p.Arg480Gly, NP_001073286.1:p.Arg480Gly, NP_001352459.1:p.Arg480Gly, NP_001352458.1:p.Arg480Gly, NP_001303235.1:p.Arg361Gly, NP_001381857.1:p.Arg519Gly, XP_016859494.1:p.Arg366Gly, XP_016859495.1:p.Arg366Gly, XP_047300177.1:p.Arg366Gly, XP_047300178.1:p.Arg366Gly

Select item 147714406716.

rs1477144067 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:172467527 (GRCh38)
2:173332255 (GRCh37)
Canonical SPDI:: NC_000002.12:172467526:C:T
Gene:: ITGA6 (Varview), ITGA6-AS1 (Varview)
Functional Consequence:: synonymous_variant,upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.172467527C>T, NC_000002.11:g.173332255C>T, NG_008853.1:g.44942C>T, NM_000210.4:c.354C>T, NM_000210.3:c.354C>T, NM_000210.2:c.354C>T, NM_001079818.3:c.354C>T, NM_001079818.2:c.354C>T, NM_001079818.1:c.354C>T, NM_001365530.2:c.354C>T, NM_001365530.1:c.354C>T, NM_001365529.2:c.354C>T, NM_001365529.1:c.354C>T, NM_001316306.2:c.12C>T, NM_001316306.1:c.12C>T, NM_001394928.1:c.354C>T, XM_017004005.2:c.12C>T, XM_017004005.1:c.12C>T, XM_017004006.2:c.12C>T, XM_017004006.1:c.12C>T, XM_047444221.1:c.12C>T, XM_047444222.1:c.12C>T

Select item 147618938917.

rs1476189389 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:172467540 (GRCh38)
2:173332268 (GRCh37)
Canonical SPDI:: NC_000002.12:172467539:G:A
Gene:: ITGA6 (Varview), ITGA6-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.172467540G>A, NC_000002.11:g.173332268G>A, NG_008853.1:g.44955G>A, NM_000210.4:c.367G>A, NM_000210.3:c.367G>A, NM_000210.2:c.367G>A, NM_001079818.3:c.367G>A, NM_001079818.2:c.367G>A, NM_001079818.1:c.367G>A, NM_001365530.2:c.367G>A, NM_001365530.1:c.367G>A, NM_001365529.2:c.367G>A, NM_001365529.1:c.367G>A, NM_001316306.2:c.25G>A, NM_001316306.1:c.25G>A, NM_001394928.1:c.367G>A, XM_017004005.2:c.25G>A, XM_017004005.1:c.25G>A, XM_017004006.2:c.25G>A, XM_017004006.1:c.25G>A, XM_047444221.1:c.25G>A, XM_047444222.1:c.25G>A, NP_000201.2:p.Gly123Ser, NP_001073286.1:p.Gly123Ser, NP_001352459.1:p.Gly123Ser, NP_001352458.1:p.Gly123Ser, NP_001303235.1:p.Gly9Ser, NP_001381857.1:p.Gly123Ser, XP_016859494.1:p.Gly9Ser, XP_016859495.1:p.Gly9Ser, XP_047300177.1:p.Gly9Ser, XP_047300178.1:p.Gly9Ser

Select item 147508998418.

rs1475089984 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 2:172474095 (GRCh38)
2:173338823 (GRCh37)
Canonical SPDI:: NC_000002.12:172474094:T:A
Gene:: ITGA6 (Varview)
Functional Consequence:: coding_sequence_variant,missense_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.172474095T>A, NC_000002.11:g.173338823T>A, NG_008853.1:g.51510T>A, NM_000210.4:c.816T>A, NM_000210.3:c.816T>A, NM_000210.2:c.816T>A, NM_001079818.3:c.816T>A, NM_001079818.2:c.816T>A, NM_001079818.1:c.816T>A, NM_001365530.2:c.816T>A, NM_001365530.1:c.816T>A, NM_001365529.2:c.816T>A, NM_001365529.1:c.816T>A, NM_001316306.2:c.459T>A, NM_001316306.1:c.459T>A, NM_001394928.1:c.933T>A, XM_017004005.2:c.474T>A, XM_017004005.1:c.474T>A, XM_017004006.2:c.474T>A, XM_017004006.1:c.474T>A, XM_047444221.1:c.474T>A, XM_047444222.1:c.474T>A, NP_000201.2:p.Asp272Glu, NP_001073286.1:p.Asp272Glu, NP_001352459.1:p.Asp272Glu, NP_001352458.1:p.Asp272Glu, NP_001303235.1:p.Asp153Glu, NP_001381857.1:p.Asp311Glu, XP_016859494.1:p.Asp158Glu, XP_016859495.1:p.Asp158Glu, XP_047300177.1:p.Asp158Glu, XP_047300178.1:p.Asp158Glu

Select item 147239744919.

rs1472397449 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:172485212 (GRCh38)
2:173349940 (GRCh37)
Canonical SPDI:: NC_000002.12:172485211:C:T
Gene:: ITGA6 (Varview), LOC124900513 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.172485212C>T, NC_000002.11:g.173349940C>T, NG_008853.1:g.62627C>T, NM_000210.4:c.1802C>T, NM_000210.3:c.1802C>T, NM_000210.2:c.1802C>T, NM_001079818.3:c.1802C>T, NM_001079818.2:c.1802C>T, NM_001079818.1:c.1802C>T, NM_001365530.2:c.1802C>T, NM_001365530.1:c.1802C>T, NM_001365529.2:c.1802C>T, NM_001365529.1:c.1802C>T, NM_001316306.2:c.1445C>T, NM_001316306.1:c.1445C>T, NM_001394928.1:c.1919C>T, XM_017004005.2:c.1460C>T, XM_017004005.1:c.1460C>T, XM_017004006.2:c.1460C>T, XM_017004006.1:c.1460C>T, XM_047444221.1:c.1460C>T, XM_047444222.1:c.1460C>T, NP_000201.2:p.Pro601Leu, NP_001073286.1:p.Pro601Leu, NP_001352459.1:p.Pro601Leu, NP_001352458.1:p.Pro601Leu, NP_001303235.1:p.Pro482Leu, NP_001381857.1:p.Pro640Leu, XP_016859494.1:p.Pro487Leu, XP_016859495.1:p.Pro487Leu, XP_047300177.1:p.Pro487Leu, XP_047300178.1:p.Pro487Leu

Select item 147144406320.

rs1471444063 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:172488007 (GRCh38)
2:173352735 (GRCh37)
Canonical SPDI:: NC_000002.12:172488006:G:A
Gene:: ITGA6 (Varview), LOC124900513 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,downstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.172488007G>A, NC_000002.11:g.173352735G>A, NG_008853.1:g.65422G>A, NM_000210.4:c.2371G>A, NM_000210.3:c.2371G>A, NM_000210.2:c.2371G>A, NM_001079818.3:c.2371G>A, NM_001079818.2:c.2371G>A, NM_001079818.1:c.2371G>A, NM_001365530.2:c.2371G>A, NM_001365530.1:c.2371G>A, NM_001365529.2:c.2371G>A, NM_001365529.1:c.2371G>A, NM_001316306.2:c.2014G>A, NM_001316306.1:c.2014G>A, NM_001394928.1:c.2488G>A, XM_017004005.2:c.2029G>A, XM_017004005.1:c.2029G>A, XM_017004006.2:c.2029G>A, XM_017004006.1:c.2029G>A, XM_047444221.1:c.2029G>A, XM_047444222.1:c.2029G>A, NP_000201.2:p.Val791Met, NP_001073286.1:p.Val791Met, NP_001352459.1:p.Val791Met, NP_001352458.1:p.Val791Met, NP_001303235.1:p.Val672Met, NP_001381857.1:p.Val830Met, XP_016859494.1:p.Val677Met, XP_016859495.1:p.Val677Met, XP_047300177.1:p.Val677Met, XP_047300178.1:p.Val677Met

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