SNP Links for Protein (Select 193794843) - SNP

Links from Protein

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Select item 14901321611.

rs1490132161 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:18180607 (GRCh38)
X:18198727 (GRCh37)
Canonical SPDI:: NC_000023.11:18180606:C:T
Gene:: BEND2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.00001/1 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000023.11:g.18180607C>T, NC_000023.10:g.18198727C>T, NG_021323.1:g.45298G>A, NM_153346.5:c.1332G>A, NM_153346.4:c.1332G>A, NM_001184767.2:c.1059G>A, NM_001184767.1:c.1059G>A, XM_011545447.2:c.1374G>A, XM_011545447.1:c.1374G>A, XM_017029266.2:c.1248G>A, XM_017029266.1:c.1248G>A, XM_017029267.2:c.1374G>A, XM_017029267.1:c.1374G>A

Select item 14845314182.

rs1484531418 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: X:18195374 (GRCh38)
X:18213494 (GRCh37)
Canonical SPDI:: NC_000023.11:18195373:C:A
Gene:: BEND2 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.18195374C>A, NC_000023.10:g.18213494C>A, NG_021323.1:g.30531G>T, NM_153346.5:c.1102G>T, NM_153346.4:c.1102G>T, XM_011545447.2:c.1102G>T, XM_011545447.1:c.1102G>T, XM_017029266.2:c.976G>T, XM_017029266.1:c.976G>T, XM_017029267.2:c.1102G>T, XM_017029267.1:c.1102G>T, NP_699177.2:p.Val368Leu, XP_011543749.1:p.Val368Leu, XP_016884755.1:p.Val326Leu, XP_016884756.1:p.Val368Leu

Select item 14836602163.

rs1483660216 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:18174166 (GRCh38)
X:18192286 (GRCh37)
Canonical SPDI:: NC_000023.11:18174165:G:A
Gene:: BEND2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.18174166G>A, NC_000023.10:g.18192286G>A, NG_021323.1:g.51739C>T, NM_153346.5:c.1845C>T, NM_153346.4:c.1845C>T, NM_001184767.2:c.1572C>T, NM_001184767.1:c.1572C>T, XM_011545447.2:c.1887C>T, XM_011545447.1:c.1887C>T, XM_017029266.2:c.1761C>T, XM_017029266.1:c.1761C>T, XM_017029267.2:c.1887C>T, XM_017029267.1:c.1887C>T

Select item 14828316134.

rs1482831613 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:18201835 (GRCh38)
X:18219955 (GRCh37)
Canonical SPDI:: NC_000023.11:18201834:A:G
Gene:: BEND2 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.18201835A>G, NC_000023.10:g.18219955A>G, NG_021323.1:g.24070T>C, NM_153346.5:c.1013T>C, NM_153346.4:c.1013T>C, XM_011545447.2:c.1013T>C, XM_011545447.1:c.1013T>C, XM_017029267.2:c.1013T>C, XM_017029267.1:c.1013T>C, NP_699177.2:p.Val338Ala, XP_011543749.1:p.Val338Ala, XP_016884756.1:p.Val338Ala

Select item 14827195125.

rs1482719512 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:18216630 (GRCh38)
X:18234750 (GRCh37)
Canonical SPDI:: NC_000023.11:18216629:T:C
Gene:: BEND2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.18216630T>C, NC_000023.10:g.18234750T>C, NG_021323.1:g.9275A>G, NM_153346.5:c.129A>G, NM_153346.4:c.129A>G, NM_001184767.2:c.129A>G, NM_001184767.1:c.129A>G, XM_011545447.2:c.129A>G, XM_011545447.1:c.129A>G, XM_017029266.2:c.129A>G, XM_017029266.1:c.129A>G, XM_017029267.2:c.129A>G, XM_017029267.1:c.129A>G

Select item 14782681576.

rs1478268157 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:18203730 (GRCh38)
X:18221850 (GRCh37)
Canonical SPDI:: NC_000023.11:18203729:T:C
Gene:: BEND2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.18203730T>C, NC_000023.10:g.18221850T>C, NG_021323.1:g.22175A>G, NM_153346.5:c.678A>G, NM_153346.4:c.678A>G, NM_001184767.2:c.678A>G, NM_001184767.1:c.678A>G, XM_011545447.2:c.678A>G, XM_011545447.1:c.678A>G, XM_017029266.2:c.678A>G, XM_017029266.1:c.678A>G, XM_017029267.2:c.678A>G, XM_017029267.1:c.678A>G

Select item 14777915077.

rs1477791507 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:18203714 (GRCh38)
X:18221834 (GRCh37)
Canonical SPDI:: NC_000023.11:18203713:T:C
Gene:: BEND2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.18203714T>C, NC_000023.10:g.18221834T>C, NG_021323.1:g.22191A>G, NM_153346.5:c.694A>G, NM_153346.4:c.694A>G, NM_001184767.2:c.694A>G, NM_001184767.1:c.694A>G, XM_011545447.2:c.694A>G, XM_011545447.1:c.694A>G, XM_017029266.2:c.694A>G, XM_017029266.1:c.694A>G, XM_017029267.2:c.694A>G, XM_017029267.1:c.694A>G, NP_699177.2:p.Met232Val, NP_001171696.1:p.Met232Val, XP_011543749.1:p.Met232Val, XP_016884755.1:p.Met232Val, XP_016884756.1:p.Met232Val

Select item 14773252928.

rs1477325292 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:18203610 (GRCh38)
X:18221730 (GRCh37)
Canonical SPDI:: NC_000023.11:18203609:T:C
Gene:: BEND2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.18203610T>C, NC_000023.10:g.18221730T>C, NG_021323.1:g.22295A>G, NM_153346.5:c.798A>G, NM_153346.4:c.798A>G, NM_001184767.2:c.798A>G, NM_001184767.1:c.798A>G, XM_011545447.2:c.798A>G, XM_011545447.1:c.798A>G, XM_017029266.2:c.798A>G, XM_017029266.1:c.798A>G, XM_017029267.2:c.798A>G, XM_017029267.1:c.798A>G

Select item 14766291829.

rs1476629182 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: X:18213824 (GRCh38)
X:18231944 (GRCh37)
Canonical SPDI:: NC_000023.11:18213823:T:A
Gene:: BEND2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000015/4 (TOPMED)
A=0.000019/2 (GnomAD)
HGVS:: NC_000023.11:g.18213824T>A, NC_000023.10:g.18231944T>A, NG_021323.1:g.12081A>T, NM_153346.5:c.326A>T, NM_153346.4:c.326A>T, NM_001184767.2:c.326A>T, NM_001184767.1:c.326A>T, XM_011545447.2:c.326A>T, XM_011545447.1:c.326A>T, XM_017029266.2:c.326A>T, XM_017029266.1:c.326A>T, XM_017029267.2:c.326A>T, XM_017029267.1:c.326A>T, NP_699177.2:p.His109Leu, NP_001171696.1:p.His109Leu, XP_011543749.1:p.His109Leu, XP_016884755.1:p.His109Leu, XP_016884756.1:p.His109Leu

Select item 147649207310.

rs1476492073 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:18174148 (GRCh38)
X:18192268 (GRCh37)
Canonical SPDI:: NC_000023.11:18174147:C:T
Gene:: BEND2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.18174148C>T, NC_000023.10:g.18192268C>T, NG_021323.1:g.51757G>A, NM_153346.5:c.1863G>A, NM_153346.4:c.1863G>A, NM_001184767.2:c.1590G>A, NM_001184767.1:c.1590G>A, XM_011545447.2:c.1905G>A, XM_011545447.1:c.1905G>A, XM_017029266.2:c.1779G>A, XM_017029266.1:c.1779G>A, XM_017029267.2:c.1905G>A, XM_017029267.1:c.1905G>A

Select item 147539248811.

rs1475392488 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: X:18165178 (GRCh38)
X:18183298 (GRCh37)
Canonical SPDI:: NC_000023.11:18165177:C:A
Gene:: BEND2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
HGVS:: NC_000023.11:g.18165178C>A, NC_000023.10:g.18183298C>A, NG_021323.1:g.60727G>T, NM_153346.5:c.2231G>T, NM_153346.4:c.2231G>T, XM_011545447.2:c.2273G>T, XM_011545447.1:c.2273G>T, XM_017029266.2:c.2147G>T, XM_017029266.1:c.2147G>T, NP_699177.2:p.Gly744Val, XP_011543749.1:p.Gly758Val, XP_016884755.1:p.Gly716Val

Select item 147372495812.

rs1473724958 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:18195351 (GRCh38)
X:18213471 (GRCh37)
Canonical SPDI:: NC_000023.11:18195350:T:C
Gene:: BEND2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.18195351T>C, NC_000023.10:g.18213471T>C, NG_021323.1:g.30554A>G, NM_153346.5:c.1125A>G, NM_153346.4:c.1125A>G, XM_011545447.2:c.1125A>G, XM_011545447.1:c.1125A>G, XM_017029266.2:c.999A>G, XM_017029266.1:c.999A>G, XM_017029267.2:c.1125A>G, XM_017029267.1:c.1125A>G

Select item 146882038413.

rs1468820384 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>-,CC [Show Flanks]
Chromosome:: X:18191083 (GRCh38)
X:18209203 (GRCh37)
Canonical SPDI:: NC_000023.11:18191082:CCC:CC,NC_000023.11:18191082:CCC:CCCC
Gene:: BEND2 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: -=0.000011/2 (GnomAD_exomes)
HGVS:: NC_000023.11:g.18191085del, NC_000023.11:g.18191085dup, NC_000023.10:g.18209205del, NC_000023.10:g.18209205dup, NG_021323.1:g.34822del, NG_021323.1:g.34822dup, NM_153346.5:c.1206del, NM_153346.5:c.1206dup, NM_153346.4:c.1206del, NM_153346.4:c.1206dup, NM_001184767.2:c.933del, NM_001184767.2:c.933dup, NM_001184767.1:c.933del, NM_001184767.1:c.933dup, XM_011545447.2:c.1248del, XM_011545447.2:c.1248dup, XM_011545447.1:c.1248del, XM_011545447.1:c.1248dup, XM_017029266.2:c.1122del, XM_017029266.2:c.1122dup, XM_017029266.1:c.1122del, XM_017029266.1:c.1122dup, XM_017029267.2:c.1248del, XM_017029267.2:c.1248dup, XM_017029267.1:c.1248del, XM_017029267.1:c.1248dup, NP_699177.2:p.Thr403fs, NP_699177.2:p.Thr403fs, NP_001171696.1:p.Thr312fs, NP_001171696.1:p.Thr312fs, XP_011543749.1:p.Thr417fs, XP_011543749.1:p.Thr417fs, XP_016884755.1:p.Thr375fs, XP_016884755.1:p.Thr375fs, XP_016884756.1:p.Thr417fs, XP_016884756.1:p.Thr417fs

Select item 146386699714.

rs1463866997 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:18201930 (GRCh38)
X:18220050 (GRCh37)
Canonical SPDI:: NC_000023.11:18201929:T:C
Gene:: BEND2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.18201930T>C, NC_000023.10:g.18220050T>C, NG_021323.1:g.23975A>G, NM_153346.5:c.918A>G, NM_153346.4:c.918A>G, XM_011545447.2:c.918A>G, XM_011545447.1:c.918A>G, XM_017029267.2:c.918A>G, XM_017029267.1:c.918A>G

Select item 146373943915.

rs1463739439 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:18212643 (GRCh38)
X:18230763 (GRCh37)
Canonical SPDI:: NC_000023.11:18212642:G:A
Gene:: BEND2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000223/2 (ALFA)
A=0.000005/1 (GnomAD_exomes)
A=0.000019/2 (GnomAD)
HGVS:: NC_000023.11:g.18212643G>A, NC_000023.10:g.18230763G>A, NG_021323.1:g.13262C>T, NM_153346.5:c.414C>T, NM_153346.4:c.414C>T, NM_001184767.2:c.414C>T, NM_001184767.1:c.414C>T, XM_011545447.2:c.414C>T, XM_011545447.1:c.414C>T, XM_017029266.2:c.414C>T, XM_017029266.1:c.414C>T, XM_017029267.2:c.414C>T, XM_017029267.1:c.414C>T

Select item 145971111716.

rs1459711117 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:18191059 (GRCh38)
X:18209179 (GRCh37)
Canonical SPDI:: NC_000023.11:18191058:C:T
Gene:: BEND2 (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)
T=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.18191059C>T, NC_000023.10:g.18209179C>T, NG_021323.1:g.34846G>A, NM_153346.5:c.1230G>A, NM_153346.4:c.1230G>A, NM_001184767.2:c.957G>A, NM_001184767.1:c.957G>A, XM_011545447.2:c.1272G>A, XM_011545447.1:c.1272G>A, XM_017029266.2:c.1146G>A, XM_017029266.1:c.1146G>A, XM_017029267.2:c.1272G>A, XM_017029267.1:c.1272G>A, NP_699177.2:p.Met410Ile, NP_001171696.1:p.Met319Ile, XP_011543749.1:p.Met424Ile, XP_016884755.1:p.Met382Ile, XP_016884756.1:p.Met424Ile

Select item 145883152217.

rs1458831522 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:18203590 (GRCh38)
X:18221710 (GRCh37)
Canonical SPDI:: NC_000023.11:18203589:G:A
Gene:: BEND2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000094/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.18203590G>A, NC_000023.10:g.18221710G>A, NG_021323.1:g.22315C>T, NM_153346.5:c.818C>T, NM_153346.4:c.818C>T, NM_001184767.2:c.818C>T, NM_001184767.1:c.818C>T, XM_011545447.2:c.818C>T, XM_011545447.1:c.818C>T, XM_017029266.2:c.818C>T, XM_017029266.1:c.818C>T, XM_017029267.2:c.818C>T, XM_017029267.1:c.818C>T, NP_699177.2:p.Pro273Leu, NP_001171696.1:p.Pro273Leu, XP_011543749.1:p.Pro273Leu, XP_016884755.1:p.Pro273Leu, XP_016884756.1:p.Pro273Leu

Select item 145693653618.

rs1456936536 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: X:18213911 (GRCh38)
X:18232031 (GRCh37)
Canonical SPDI:: NC_000023.11:18213910:C:A,NC_000023.11:18213910:C:T
Gene:: BEND2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.18213911C>A, NC_000023.11:g.18213911C>T, NC_000023.10:g.18232031C>A, NC_000023.10:g.18232031C>T, NG_021323.1:g.11994G>T, NG_021323.1:g.11994G>A, NM_153346.5:c.239G>T, NM_153346.5:c.239G>A, NM_153346.4:c.239G>T, NM_153346.4:c.239G>A, NM_001184767.2:c.239G>T, NM_001184767.2:c.239G>A, NM_001184767.1:c.239G>T, NM_001184767.1:c.239G>A, XM_011545447.2:c.239G>T, XM_011545447.2:c.239G>A, XM_011545447.1:c.239G>T, XM_011545447.1:c.239G>A, XM_017029266.2:c.239G>T, XM_017029266.2:c.239G>A, XM_017029266.1:c.239G>T, XM_017029266.1:c.239G>A, XM_017029267.2:c.239G>T, XM_017029267.2:c.239G>A, XM_017029267.1:c.239G>T, XM_017029267.1:c.239G>A, NP_699177.2:p.Gly80Val, NP_699177.2:p.Gly80Glu, NP_001171696.1:p.Gly80Val, NP_001171696.1:p.Gly80Glu, XP_011543749.1:p.Gly80Val, XP_011543749.1:p.Gly80Glu, XP_016884755.1:p.Gly80Val, XP_016884755.1:p.Gly80Glu, XP_016884756.1:p.Gly80Val, XP_016884756.1:p.Gly80Glu

Select item 145662562419.

rs1456625624 [Homo sapiens]

Variant type:: DEL
Alleles:: GGAAAATCCA>- [Show Flanks]
Chromosome:: X:18212593 (GRCh38)
X:18230713 (GRCh37)
Canonical SPDI:: NC_000023.11:18212592:GGAAAATCCA:
Gene:: BEND2 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
HGVS:: NC_000023.11:g.18212593_18212602del, NC_000023.10:g.18230713_18230722del, NG_021323.1:g.13303_13312del, NM_153346.5:c.455_464del, NM_153346.4:c.455_464del, NM_001184767.2:c.455_464del, NM_001184767.1:c.455_464del, XM_011545447.2:c.455_464del, XM_011545447.1:c.455_464del, XM_017029266.2:c.455_464del, XM_017029266.1:c.455_464del, XM_017029267.2:c.455_464del, XM_017029267.1:c.455_464del, NP_699177.2:p.Val152fs, NP_001171696.1:p.Val152fs, XP_011543749.1:p.Val152fs, XP_016884755.1:p.Val152fs, XP_016884756.1:p.Val152fs

Select item 145297723420.

rs1452977234 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: X:18213898 (GRCh38)
X:18232018 (GRCh37)
Canonical SPDI:: NC_000023.11:18213897:G:A,NC_000023.11:18213897:G:T
Gene:: BEND2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.18213898G>A, NC_000023.11:g.18213898G>T, NC_000023.10:g.18232018G>A, NC_000023.10:g.18232018G>T, NG_021323.1:g.12007C>T, NG_021323.1:g.12007C>A, NM_153346.5:c.252C>T, NM_153346.5:c.252C>A, NM_153346.4:c.252C>T, NM_153346.4:c.252C>A, NM_001184767.2:c.252C>T, NM_001184767.2:c.252C>A, NM_001184767.1:c.252C>T, NM_001184767.1:c.252C>A, XM_011545447.2:c.252C>T, XM_011545447.2:c.252C>A, XM_011545447.1:c.252C>T, XM_011545447.1:c.252C>A, XM_017029266.2:c.252C>T, XM_017029266.2:c.252C>A, XM_017029266.1:c.252C>T, XM_017029266.1:c.252C>A, XM_017029267.2:c.252C>T, XM_017029267.2:c.252C>A, XM_017029267.1:c.252C>T, XM_017029267.1:c.252C>A

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