SNP Links for Protein (Select 156105685) - SNP

Links from Protein

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Select item 14907657331.

rs1490765733 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:151044056 (GRCh38)
7:150741143 (GRCh37)
Canonical SPDI:: NC_000007.14:151044055:A:G
Gene:: ABCB8 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.151044056A>G, NC_000007.13:g.150741143A>G, NM_007188.5:c.1851A>G, NM_007188.4:c.1851A>G, NM_007188.3:c.1851A>G, NM_001282291.2:c.1902A>G, NM_001282291.1:c.1902A>G, NM_001282292.2:c.1851A>G, NM_001282292.1:c.1851A>G, NM_001282293.2:c.1587A>G, NM_001282293.1:c.1587A>G, NP_009119.2:p.Ile617Met, NP_001269220.1:p.Ile634Met, NP_001269221.1:p.Ile617Met, NP_001269222.1:p.Ile529Met

Select item 14897246602.

rs1489724660 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:151033888 (GRCh38)
7:150730975 (GRCh37)
Canonical SPDI:: NC_000007.14:151033887:C:T
Gene:: ABCB8 (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=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.151033888C>T, NC_000007.13:g.150730975C>T, NM_007188.5:c.379C>T, NM_007188.4:c.379C>T, NM_007188.3:c.379C>T, NM_001282291.2:c.430C>T, NM_001282291.1:c.430C>T, NM_001282292.2:c.379C>T, NM_001282292.1:c.379C>T, NP_009119.2:p.His127Tyr, NP_001269220.1:p.His144Tyr, NP_001269221.1:p.His127Tyr

Select item 14862159733.

rs1486215973 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>-,TT [Show Flanks]
Chromosome:: 7:151034797 (GRCh38)
7:150731884 (GRCh37)
Canonical SPDI:: NC_000007.14:151034796:TTT:TT,NC_000007.14:151034796:TTT:TTTT
Gene:: ABCB8 (Varview)
Functional Consequence:: stop_gained,frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTT=0./0 (ALFA)
-=0.000008/2 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000007.14:g.151034799del, NC_000007.14:g.151034799dup, NC_000007.13:g.150731886del, NC_000007.13:g.150731886dup, NM_007188.5:c.735del, NM_007188.5:c.735dup, NM_007188.4:c.735del, NM_007188.4:c.735dup, NM_007188.3:c.735del, NM_007188.3:c.735dup, NM_001282291.2:c.786del, NM_001282291.2:c.786dup, NM_001282291.1:c.786del, NM_001282291.1:c.786dup, NM_001282292.2:c.735del, NM_001282292.2:c.735dup, NM_001282292.1:c.735del, NM_001282292.1:c.735dup, NM_001282293.2:c.471del, NM_001282293.2:c.471dup, NM_001282293.1:c.471del, NM_001282293.1:c.471dup, NP_009119.2:p.Phe245fs, NP_009119.2:p.Lys246Ter, NP_001269220.1:p.Phe262fs, NP_001269220.1:p.Lys263Ter, NP_001269221.1:p.Phe245fs, NP_001269221.1:p.Lys246Ter, NP_001269222.1:p.Phe157fs, NP_001269222.1:p.Lys158Ter

Select item 14844478804.

rs1484447880 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CC [Show Flanks]
Chromosome:: 7:151040502 (GRCh38)
7:150737590 (GRCh37)
Canonical SPDI:: NC_000007.14:151040502:CC:CCCC
Gene:: ABCB8 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
HGVS:: NC_000007.14:g.151040503_151040504dup, NC_000007.13:g.150737590_150737591dup, NM_007188.5:c.1257_1258dup, NM_007188.4:c.1257_1258dup, NM_007188.3:c.1257_1258dup, NM_001282291.2:c.1308_1309dup, NM_001282291.1:c.1308_1309dup, NM_001282292.2:c.1257_1258dup, NM_001282292.1:c.1257_1258dup, NM_001282293.2:c.993_994dup, NM_001282293.1:c.993_994dup, NP_009119.2:p.Arg420fs, NP_001269220.1:p.Arg437fs, NP_001269221.1:p.Arg420fs, NP_001269222.1:p.Arg332fs

Select item 14825612895.

rs1482561289 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:151041184 (GRCh38)
7:150738271 (GRCh37)
Canonical SPDI:: NC_000007.14:151041183:C:T
Gene:: ABCB8 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000007.14:g.151041184C>T, NC_000007.13:g.150738271C>T, NM_007188.5:c.1569C>T, NM_007188.4:c.1569C>T, NM_007188.3:c.1569C>T, NM_001282291.2:c.1620C>T, NM_001282291.1:c.1620C>T, NM_001282292.2:c.1569C>T, NM_001282292.1:c.1569C>T, NM_001282293.2:c.1305C>T, NM_001282293.1:c.1305C>T

Select item 14812098086.

rs1481209808 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:151043992 (GRCh38)
7:150741079 (GRCh37)
Canonical SPDI:: NC_000007.14:151043991:C:T
Gene:: ABCB8 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.151043992C>T, NC_000007.13:g.150741079C>T, NM_007188.5:c.1787C>T, NM_007188.4:c.1787C>T, NM_007188.3:c.1787C>T, NM_001282291.2:c.1838C>T, NM_001282291.1:c.1838C>T, NM_001282292.2:c.1787C>T, NM_001282292.1:c.1787C>T, NM_001282293.2:c.1523C>T, NM_001282293.1:c.1523C>T, NP_009119.2:p.Ser596Phe, NP_001269220.1:p.Ser613Phe, NP_001269221.1:p.Ser596Phe, NP_001269222.1:p.Ser508Phe

Select item 14782437437.

rs1478243743 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 7:151033664 (GRCh38)
7:150730751 (GRCh37)
Canonical SPDI:: NC_000007.14:151033663:A:C
Gene:: ABCB8 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.151033664A>C, NC_000007.13:g.150730751A>C, NM_007188.5:c.155A>C, NM_007188.4:c.155A>C, NM_007188.3:c.155A>C, NM_001282291.2:c.206A>C, NM_001282291.1:c.206A>C, NM_001282292.2:c.155A>C, NM_001282292.1:c.155A>C, NP_009119.2:p.Gln52Pro, NP_001269220.1:p.Gln69Pro, NP_001269221.1:p.Gln52Pro

Select item 14780361788.

rs1478036178 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:151036647 (GRCh38)
7:150733734 (GRCh37)
Canonical SPDI:: NC_000007.14:151036646:A:G
Gene:: ABCB8 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.151036647A>G, NC_000007.13:g.150733734A>G, NM_007188.5:c.1215A>G, NM_007188.4:c.1215A>G, NM_007188.3:c.1215A>G, NM_001282291.2:c.1266A>G, NM_001282291.1:c.1266A>G, NM_001282292.2:c.1215A>G, NM_001282292.1:c.1215A>G, NM_001282293.2:c.951A>G, NM_001282293.1:c.951A>G

Select item 14775220619.

rs1477522061 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:151044113 (GRCh38)
7:150741200 (GRCh37)
Canonical SPDI:: NC_000007.14:151044112:C:T
Gene:: ABCB8 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.151044113C>T, NC_000007.13:g.150741200C>T, NM_007188.5:c.1908C>T, NM_007188.4:c.1908C>T, NM_007188.3:c.1908C>T, NM_001282291.2:c.1959C>T, NM_001282291.1:c.1959C>T, NM_001282292.2:c.1908C>T, NM_001282292.1:c.1908C>T, NM_001282293.2:c.1644C>T, NM_001282293.1:c.1644C>T

Select item 147432693510.

rs1474326935 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:151040899 (GRCh38)
7:150737986 (GRCh37)
Canonical SPDI:: NC_000007.14:151040898:C:T
Gene:: ABCB8 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.151040899C>T, NC_000007.13:g.150737986C>T, NM_007188.5:c.1460C>T, NM_007188.4:c.1460C>T, NM_007188.3:c.1460C>T, NM_001282291.2:c.1511C>T, NM_001282291.1:c.1511C>T, NM_001282292.2:c.1460C>T, NM_001282292.1:c.1460C>T, NM_001282293.2:c.1196C>T, NM_001282293.1:c.1196C>T, NP_009119.2:p.Ala487Val, NP_001269220.1:p.Ala504Val, NP_001269221.1:p.Ala487Val, NP_001269222.1:p.Ala399Val

Select item 147415801011.

rs1474158010 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:151034401 (GRCh38)
7:150731488 (GRCh37)
Canonical SPDI:: NC_000007.14:151034400:C:T
Gene:: ABCB8 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000007.14:g.151034401C>T, NC_000007.13:g.150731488C>T, NM_007188.5:c.537C>T, NM_007188.4:c.537C>T, NM_007188.3:c.537C>T, NM_001282291.2:c.588C>T, NM_001282291.1:c.588C>T, NM_001282292.2:c.537C>T, NM_001282292.1:c.537C>T, NM_001282293.2:c.273C>T, NM_001282293.1:c.273C>T

Select item 147221144812.

rs1472211448 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:151035657 (GRCh38)
7:150732744 (GRCh37)
Canonical SPDI:: NC_000007.14:151035656:T:C
Gene:: ABCB8 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.151035657T>C, NC_000007.13:g.150732744T>C, NM_007188.5:c.842T>C, NM_007188.4:c.842T>C, NM_007188.3:c.842T>C, NM_001282291.2:c.893T>C, NM_001282291.1:c.893T>C, NM_001282292.2:c.842T>C, NM_001282292.1:c.842T>C, NM_001282293.2:c.578T>C, NM_001282293.1:c.578T>C, NP_009119.2:p.Leu281Pro, NP_001269220.1:p.Leu298Pro, NP_001269221.1:p.Leu281Pro, NP_001269222.1:p.Leu193Pro

Select item 147157520413.

rs1471575204 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:151041155 (GRCh38)
7:150738242 (GRCh37)
Canonical SPDI:: NC_000007.14:151041154:G:A
Gene:: ABCB8 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.151041155G>A, NC_000007.13:g.150738242G>A, NM_007188.5:c.1540G>A, NM_007188.4:c.1540G>A, NM_007188.3:c.1540G>A, NM_001282291.2:c.1591G>A, NM_001282291.1:c.1591G>A, NM_001282292.2:c.1540G>A, NM_001282292.1:c.1540G>A, NM_001282293.2:c.1276G>A, NM_001282293.1:c.1276G>A, NP_009119.2:p.Val514Met, NP_001269220.1:p.Val531Met, NP_001269221.1:p.Val514Met, NP_001269222.1:p.Val426Met

Select item 146869573714.

rs1468695737 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:151034561 (GRCh38)
7:150731648 (GRCh37)
Canonical SPDI:: NC_000007.14:151034560:T:C
Gene:: ABCB8 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0.000047/1 (ALFA)
C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000007.14:g.151034561T>C, NC_000007.13:g.150731648T>C, NM_007188.5:c.621T>C, NM_007188.4:c.621T>C, NM_007188.3:c.621T>C, NM_001282291.2:c.672T>C, NM_001282291.1:c.672T>C, NM_001282292.2:c.621T>C, NM_001282292.1:c.621T>C, NM_001282293.2:c.357T>C, NM_001282293.1:c.357T>C

Select item 146815946015.

rs1468159460 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:151033746 (GRCh38)
7:150730833 (GRCh37)
Canonical SPDI:: NC_000007.14:151033745:A:G
Gene:: ABCB8 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.151033746A>G, NC_000007.13:g.150730833A>G, NM_007188.5:c.237A>G, NM_007188.4:c.237A>G, NM_007188.3:c.237A>G, NM_001282291.2:c.288A>G, NM_001282291.1:c.288A>G, NM_001282292.2:c.237A>G, NM_001282292.1:c.237A>G

Select item 146728959916.

rs1467289599 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 7:151035584 (GRCh38)
7:150732671 (GRCh37)
Canonical SPDI:: NC_000007.14:151035583:C:A
Gene:: ABCB8 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000007.14:g.151035584C>A, NC_000007.13:g.150732671C>A, NM_007188.5:c.769C>A, NM_007188.4:c.769C>A, NM_007188.3:c.769C>A, NM_001282291.2:c.820C>A, NM_001282291.1:c.820C>A, NM_001282292.2:c.769C>A, NM_001282292.1:c.769C>A, NM_001282293.2:c.505C>A, NM_001282293.1:c.505C>A, NP_009119.2:p.Leu257Met, NP_001269220.1:p.Leu274Met, NP_001269221.1:p.Leu257Met, NP_001269222.1:p.Leu169Met

Select item 146707544117.

rs1467075441 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:151028606 (GRCh38)
7:150725693 (GRCh37)
Canonical SPDI:: NC_000007.14:151028605:G:A
Gene:: ABCB8 (Varview), LOC124901777 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.151028606G>A, NC_000007.13:g.150725693G>A, NG_030317.1:g.894C>T, NM_007188.5:c.91G>A, NM_007188.4:c.91G>A, NM_007188.3:c.91G>A, NM_001282291.2:c.91G>A, NM_001282291.1:c.91G>A, NM_001282292.2:c.91G>A, NM_001282292.1:c.91G>A, NM_001282293.2:c.140G>A, NM_001282293.1:c.140G>A, NP_009119.2:p.Val31Ile, NP_001269220.1:p.Val31Ile, NP_001269221.1:p.Val31Ile, NP_001269222.1:p.Cys47Tyr

Select item 146594825418.

rs1465948254 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:151036637 (GRCh38)
7:150733724 (GRCh37)
Canonical SPDI:: NC_000007.14:151036636:A:G
Gene:: ABCB8 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.151036637A>G, NC_000007.13:g.150733724A>G, NM_007188.5:c.1205A>G, NM_007188.4:c.1205A>G, NM_007188.3:c.1205A>G, NM_001282291.2:c.1256A>G, NM_001282291.1:c.1256A>G, NM_001282292.2:c.1205A>G, NM_001282292.1:c.1205A>G, NM_001282293.2:c.941A>G, NM_001282293.1:c.941A>G, NP_009119.2:p.Gln402Arg, NP_001269220.1:p.Gln419Arg, NP_001269221.1:p.Gln402Arg, NP_001269222.1:p.Gln314Arg

Select item 146281576419.

rs1462815764 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:151040888 (GRCh38)
7:150737975 (GRCh37)
Canonical SPDI:: NC_000007.14:151040887:C:T
Gene:: ABCB8 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000007.14:g.151040888C>T, NC_000007.13:g.150737975C>T, NM_007188.5:c.1449C>T, NM_007188.4:c.1449C>T, NM_007188.3:c.1449C>T, NM_001282291.2:c.1500C>T, NM_001282291.1:c.1500C>T, NM_001282292.2:c.1449C>T, NM_001282292.1:c.1449C>T, NM_001282293.2:c.1185C>T, NM_001282293.1:c.1185C>T

Select item 146274126720.

rs1462741267 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 7:151034734 (GRCh38)
7:150731821 (GRCh37)
Canonical SPDI:: NC_000007.14:151034733:A:G,NC_000007.14:151034733:A:T
Gene:: ABCB8 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: T=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000007.14:g.151034734A>G, NC_000007.14:g.151034734A>T, NC_000007.13:g.150731821A>G, NC_000007.13:g.150731821A>T, NM_007188.5:c.670A>G, NM_007188.5:c.670A>T, NM_007188.4:c.670A>G, NM_007188.4:c.670A>T, NM_007188.3:c.670A>G, NM_007188.3:c.670A>T, NM_001282291.2:c.721A>G, NM_001282291.2:c.721A>T, NM_001282291.1:c.721A>G, NM_001282291.1:c.721A>T, NM_001282292.2:c.670A>G, NM_001282292.2:c.670A>T, NM_001282292.1:c.670A>G, NM_001282292.1:c.670A>T, NM_001282293.2:c.406A>G, NM_001282293.2:c.406A>T, NM_001282293.1:c.406A>G, NM_001282293.1:c.406A>T, NP_009119.2:p.Thr224Ala, NP_009119.2:p.Thr224Ser, NP_001269220.1:p.Thr241Ala, NP_001269220.1:p.Thr241Ser, NP_001269221.1:p.Thr224Ala, NP_001269221.1:p.Thr224Ser, NP_001269222.1:p.Thr136Ala, NP_001269222.1:p.Thr136Ser

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