SNP Links for Protein (Select 21536413) - SNP

Links from Protein

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Select item 14907721701.

rs1490772170 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:127059126 (GRCh38)
2:127816702 (GRCh37)
Canonical SPDI:: NC_000002.12:127059125:C:T
Gene:: BIN1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.127059126C>T, NC_000002.11:g.127816702C>T, NG_012042.1:g.53163G>A, NM_004305.4:c.839G>A, NM_004305.3:c.839G>A, NM_139343.3:c.887G>A, NM_139343.2:c.887G>A, NM_139344.3:c.887G>A, NM_139344.2:c.887G>A, NM_139347.3:c.794G>A, NM_139347.2:c.794G>A, NM_139345.3:c.887G>A, NM_139345.2:c.887G>A, NM_139346.3:c.839G>A, NM_139346.2:c.839G>A, NM_139348.3:c.794G>A, NM_139348.2:c.794G>A, NM_139349.3:c.794G>A, NM_139349.2:c.794G>A, NM_139350.3:c.794G>A, NM_139350.2:c.794G>A, NM_139351.3:c.794G>A, NM_139351.2:c.794G>A, NM_001320641.2:c.794G>A, NM_001320641.1:c.794G>A, NM_001320640.2:c.887G>A, NM_001320640.1:c.887G>A, NM_001320633.2:c.887G>A, NM_001320633.1:c.887G>A, NM_001320632.2:c.839G>A, NM_001320632.1:c.839G>A, NM_001320642.1:c.806G>A, NM_001320634.1:c.722G>A, NP_004296.1:p.Ser280Asn, NP_647593.1:p.Ser296Asn, NP_647594.1:p.Ser296Asn, NP_647597.1:p.Ser265Asn, NP_647595.1:p.Ser296Asn, NP_647596.1:p.Ser280Asn, NP_647598.1:p.Ser265Asn, NP_647599.1:p.Ser265Asn, NP_647600.1:p.Ser265Asn, NP_647601.1:p.Ser265Asn, NP_001307570.1:p.Ser265Asn, NP_001307569.1:p.Ser296Asn, NP_001307562.1:p.Ser296Asn, NP_001307561.1:p.Ser280Asn, NP_001307571.1:p.Ser269Asn, NP_001307563.1:p.Ser241Asn

Select item 14824224502.

rs1482422450 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:127063961 (GRCh38)
2:127821537 (GRCh37)
Canonical SPDI:: NC_000002.12:127063960:G:A
Gene:: BIN1 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.127063961G>A, NC_000002.11:g.127821537G>A, NG_012042.1:g.48328C>T, NM_004305.4:c.577C>T, NM_004305.3:c.577C>T, NM_139343.3:c.670C>T, NM_139343.2:c.670C>T, NM_139344.3:c.670C>T, NM_139344.2:c.670C>T, NM_139347.3:c.577C>T, NM_139347.2:c.577C>T, NM_139345.3:c.670C>T, NM_139345.2:c.670C>T, NM_139346.3:c.577C>T, NM_139346.2:c.577C>T, NM_139348.3:c.577C>T, NM_139348.2:c.577C>T, NM_139349.3:c.577C>T, NM_139349.2:c.577C>T, NM_139350.3:c.577C>T, NM_139350.2:c.577C>T, NM_139351.3:c.577C>T, NM_139351.2:c.577C>T, NM_001320641.2:c.577C>T, NM_001320641.1:c.577C>T, NM_001320640.2:c.670C>T, NM_001320640.1:c.670C>T, NM_001320633.2:c.670C>T, NM_001320633.1:c.670C>T, NM_001320632.2:c.577C>T, NM_001320632.1:c.577C>T, NM_001320642.1:c.589C>T, NM_001320634.1:c.505C>T, NP_004296.1:p.Gln193Ter, NP_647593.1:p.Gln224Ter, NP_647594.1:p.Gln224Ter, NP_647597.1:p.Gln193Ter, NP_647595.1:p.Gln224Ter, NP_647596.1:p.Gln193Ter, NP_647598.1:p.Gln193Ter, NP_647599.1:p.Gln193Ter, NP_647600.1:p.Gln193Ter, NP_647601.1:p.Gln193Ter, NP_001307570.1:p.Gln193Ter, NP_001307569.1:p.Gln224Ter, NP_001307562.1:p.Gln224Ter, NP_001307561.1:p.Gln193Ter, NP_001307571.1:p.Gln197Ter, NP_001307563.1:p.Gln169Ter

Select item 14810155493.

rs1481015549 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:127063972 (GRCh38)
2:127821548 (GRCh37)
Canonical SPDI:: NC_000002.12:127063971:T:C
Gene:: BIN1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.127063972T>C, NC_000002.11:g.127821548T>C, NG_012042.1:g.48317A>G, NM_004305.4:c.566A>G, NM_004305.3:c.566A>G, NM_139343.3:c.659A>G, NM_139343.2:c.659A>G, NM_139344.3:c.659A>G, NM_139344.2:c.659A>G, NM_139347.3:c.566A>G, NM_139347.2:c.566A>G, NM_139345.3:c.659A>G, NM_139345.2:c.659A>G, NM_139346.3:c.566A>G, NM_139346.2:c.566A>G, NM_139348.3:c.566A>G, NM_139348.2:c.566A>G, NM_139349.3:c.566A>G, NM_139349.2:c.566A>G, NM_139350.3:c.566A>G, NM_139350.2:c.566A>G, NM_139351.3:c.566A>G, NM_139351.2:c.566A>G, NM_001320641.2:c.566A>G, NM_001320641.1:c.566A>G, NM_001320640.2:c.659A>G, NM_001320640.1:c.659A>G, NM_001320633.2:c.659A>G, NM_001320633.1:c.659A>G, NM_001320632.2:c.566A>G, NM_001320632.1:c.566A>G, NM_001320642.1:c.578A>G, NM_001320634.1:c.494A>G, NP_004296.1:p.Asn189Ser, NP_647593.1:p.Asn220Ser, NP_647594.1:p.Asn220Ser, NP_647597.1:p.Asn189Ser, NP_647595.1:p.Asn220Ser, NP_647596.1:p.Asn189Ser, NP_647598.1:p.Asn189Ser, NP_647599.1:p.Asn189Ser, NP_647600.1:p.Asn189Ser, NP_647601.1:p.Asn189Ser, NP_001307570.1:p.Asn189Ser, NP_001307569.1:p.Asn220Ser, NP_001307562.1:p.Asn220Ser, NP_001307561.1:p.Asn189Ser, NP_001307571.1:p.Asn193Ser, NP_001307563.1:p.Asn165Ser

Select item 14805528084.

rs1480552808 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:127106938 (GRCh38)
2:127864514 (GRCh37)
Canonical SPDI:: NC_000002.12:127106937:T:C
Gene:: BIN1 (Varview), LOC105373605 (Varview)
Functional Consequence:: synonymous_variant,upstream_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000002.12:g.127106938T>C, NC_000002.11:g.127864514T>C, NG_012042.1:g.5351A>G, NM_004305.4:c.6A>G, NM_004305.3:c.6A>G, NM_139343.3:c.6A>G, NM_139343.2:c.6A>G, NM_139344.3:c.6A>G, NM_139344.2:c.6A>G, NM_139347.3:c.6A>G, NM_139347.2:c.6A>G, NM_139345.3:c.6A>G, NM_139345.2:c.6A>G, NM_139346.3:c.6A>G, NM_139346.2:c.6A>G, NM_139348.3:c.6A>G, NM_139348.2:c.6A>G, NM_139349.3:c.6A>G, NM_139349.2:c.6A>G, NM_139350.3:c.6A>G, NM_139350.2:c.6A>G, NM_139351.3:c.6A>G, NM_139351.2:c.6A>G, NM_001320641.2:c.6A>G, NM_001320641.1:c.6A>G, NM_001320640.2:c.6A>G, NM_001320640.1:c.6A>G, NM_001320633.2:c.6A>G, NM_001320633.1:c.6A>G, NM_001320632.2:c.6A>G, NM_001320632.1:c.6A>G

Select item 14756502525.

rs1475650252 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:127059034 (GRCh38)
2:127816610 (GRCh37)
Canonical SPDI:: NC_000002.12:127059033:T:C
Gene:: BIN1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0.000051/1 (ALFA)
C=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.127059034T>C, NC_000002.11:g.127816610T>C, NG_012042.1:g.53255A>G, NM_004305.4:c.931A>G, NM_004305.3:c.931A>G, NM_139343.3:c.979A>G, NM_139343.2:c.979A>G, NM_139344.3:c.979A>G, NM_139344.2:c.979A>G, NM_139347.3:c.886A>G, NM_139347.2:c.886A>G, NM_139345.3:c.979A>G, NM_139345.2:c.979A>G, NM_139346.3:c.931A>G, NM_139346.2:c.931A>G, NM_139348.3:c.886A>G, NM_139348.2:c.886A>G, NM_139349.3:c.886A>G, NM_139349.2:c.886A>G, NM_139350.3:c.886A>G, NM_139350.2:c.886A>G, NM_139351.3:c.886A>G, NM_139351.2:c.886A>G, NM_001320641.2:c.886A>G, NM_001320641.1:c.886A>G, NM_001320640.2:c.979A>G, NM_001320640.1:c.979A>G, NM_001320633.2:c.979A>G, NM_001320633.1:c.979A>G, NM_001320632.2:c.931A>G, NM_001320632.1:c.931A>G, NM_001320642.1:c.898A>G, NM_001320634.1:c.814A>G, NP_004296.1:p.Thr311Ala, NP_647593.1:p.Thr327Ala, NP_647594.1:p.Thr327Ala, NP_647597.1:p.Thr296Ala, NP_647595.1:p.Thr327Ala, NP_647596.1:p.Thr311Ala, NP_647598.1:p.Thr296Ala, NP_647599.1:p.Thr296Ala, NP_647600.1:p.Thr296Ala, NP_647601.1:p.Thr296Ala, NP_001307570.1:p.Thr296Ala, NP_001307569.1:p.Thr327Ala, NP_001307562.1:p.Thr327Ala, NP_001307561.1:p.Thr311Ala, NP_001307571.1:p.Thr300Ala, NP_001307563.1:p.Thr272Ala

Select item 14727731336.

rs1472773133 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 2:127052282 (GRCh38)
2:127809858 (GRCh37)
Canonical SPDI:: NC_000002.12:127052281:G:A,NC_000002.12:127052281:G:C
Gene:: BIN1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
C=0.00001/2 (GnomAD_exomes)
HGVS:: NC_000002.12:g.127052282G>A, NC_000002.12:g.127052282G>C, NC_000002.11:g.127809858G>A, NC_000002.11:g.127809858G>C, NG_012042.1:g.60007C>T, NG_012042.1:g.60007C>G, NM_139343.3:c.1344C>T, NM_139343.3:c.1344C>G, NM_139343.2:c.1344C>T, NM_139343.2:c.1344C>G, NM_139344.3:c.1215C>T, NM_139344.3:c.1215C>G, NM_139344.2:c.1215C>T, NM_139344.2:c.1215C>G, NM_139347.3:c.1119C>T, NM_139347.3:c.1119C>G, NM_139347.2:c.1119C>T, NM_139347.2:c.1119C>G, NM_139345.3:c.1083C>T, NM_139345.3:c.1083C>G, NM_139345.2:c.1083C>T, NM_139345.2:c.1083C>G, NM_139349.3:c.990C>T, NM_139349.3:c.990C>G, NM_139349.2:c.990C>T, NM_139349.2:c.990C>G, NM_001320641.2:c.1251C>T, NM_001320641.2:c.1251C>G, NM_001320641.1:c.1251C>T, NM_001320641.1:c.1251C>G, NM_001320642.1:c.1263C>T, NM_001320642.1:c.1263C>G, NP_647593.1:p.Ser448Arg, NP_647594.1:p.Ser405Arg, NP_647597.1:p.Ser373Arg, NP_647595.1:p.Ser361Arg, NP_647599.1:p.Ser330Arg, NP_001307570.1:p.Ser417Arg, NP_001307571.1:p.Ser421Arg

Select item 14718678507.

rs1471867850 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:127063988 (GRCh38)
2:127821564 (GRCh37)
Canonical SPDI:: NC_000002.12:127063987:C:T
Gene:: BIN1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
T=0.000035/1 (TOMMO)
HGVS:: NC_000002.12:g.127063988C>T, NC_000002.11:g.127821564C>T, NG_012042.1:g.48301G>A, NM_004305.4:c.550G>A, NM_004305.3:c.550G>A, NM_139343.3:c.643G>A, NM_139343.2:c.643G>A, NM_139344.3:c.643G>A, NM_139344.2:c.643G>A, NM_139347.3:c.550G>A, NM_139347.2:c.550G>A, NM_139345.3:c.643G>A, NM_139345.2:c.643G>A, NM_139346.3:c.550G>A, NM_139346.2:c.550G>A, NM_139348.3:c.550G>A, NM_139348.2:c.550G>A, NM_139349.3:c.550G>A, NM_139349.2:c.550G>A, NM_139350.3:c.550G>A, NM_139350.2:c.550G>A, NM_139351.3:c.550G>A, NM_139351.2:c.550G>A, NM_001320641.2:c.550G>A, NM_001320641.1:c.550G>A, NM_001320640.2:c.643G>A, NM_001320640.1:c.643G>A, NM_001320633.2:c.643G>A, NM_001320633.1:c.643G>A, NM_001320632.2:c.550G>A, NM_001320632.1:c.550G>A, NM_001320642.1:c.562G>A, NM_001320634.1:c.478G>A, NP_004296.1:p.Val184Met, NP_647593.1:p.Val215Met, NP_647594.1:p.Val215Met, NP_647597.1:p.Val184Met, NP_647595.1:p.Val215Met, NP_647596.1:p.Val184Met, NP_647598.1:p.Val184Met, NP_647599.1:p.Val184Met, NP_647600.1:p.Val184Met, NP_647601.1:p.Val184Met, NP_001307570.1:p.Val184Met, NP_001307569.1:p.Val215Met, NP_001307562.1:p.Val215Met, NP_001307561.1:p.Val184Met, NP_001307571.1:p.Val188Met, NP_001307563.1:p.Val160Met

Select item 14705548188.

rs1470554818 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:127059142 (GRCh38)
2:127816718 (GRCh37)
Canonical SPDI:: NC_000002.12:127059141:C:T
Gene:: BIN1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000002.12:g.127059142C>T, NC_000002.11:g.127816718C>T, NG_012042.1:g.53147G>A, NM_004305.4:c.823G>A, NM_004305.3:c.823G>A, NM_139343.3:c.871G>A, NM_139343.2:c.871G>A, NM_139344.3:c.871G>A, NM_139344.2:c.871G>A, NM_139347.3:c.778G>A, NM_139347.2:c.778G>A, NM_139345.3:c.871G>A, NM_139345.2:c.871G>A, NM_139346.3:c.823G>A, NM_139346.2:c.823G>A, NM_139348.3:c.778G>A, NM_139348.2:c.778G>A, NM_139349.3:c.778G>A, NM_139349.2:c.778G>A, NM_139350.3:c.778G>A, NM_139350.2:c.778G>A, NM_139351.3:c.778G>A, NM_139351.2:c.778G>A, NM_001320641.2:c.778G>A, NM_001320641.1:c.778G>A, NM_001320640.2:c.871G>A, NM_001320640.1:c.871G>A, NM_001320633.2:c.871G>A, NM_001320633.1:c.871G>A, NM_001320632.2:c.823G>A, NM_001320632.1:c.823G>A, NM_001320642.1:c.790G>A, NM_001320634.1:c.706G>A, NP_004296.1:p.Ala275Thr, NP_647593.1:p.Ala291Thr, NP_647594.1:p.Ala291Thr, NP_647597.1:p.Ala260Thr, NP_647595.1:p.Ala291Thr, NP_647596.1:p.Ala275Thr, NP_647598.1:p.Ala260Thr, NP_647599.1:p.Ala260Thr, NP_647600.1:p.Ala260Thr, NP_647601.1:p.Ala260Thr, NP_001307570.1:p.Ala260Thr, NP_001307569.1:p.Ala291Thr, NP_001307562.1:p.Ala291Thr, NP_001307561.1:p.Ala275Thr, NP_001307571.1:p.Ala264Thr, NP_001307563.1:p.Ala236Thr

Select item 14682885099.

rs1468288509 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:127052338 (GRCh38)
2:127809914 (GRCh37)
Canonical SPDI:: NC_000002.12:127052337:G:A
Gene:: BIN1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
HGVS:: NC_000002.12:g.127052338G>A, NC_000002.11:g.127809914G>A, NG_012042.1:g.59951C>T, NM_139343.3:c.1288C>T, NM_139343.2:c.1288C>T, NM_139344.3:c.1159C>T, NM_139344.2:c.1159C>T, NM_139347.3:c.1063C>T, NM_139347.2:c.1063C>T, NM_139345.3:c.1027C>T, NM_139345.2:c.1027C>T, NM_139349.3:c.934C>T, NM_139349.2:c.934C>T, NM_001320641.2:c.1195C>T, NM_001320641.1:c.1195C>T, NM_001320642.1:c.1207C>T

Select item 146809215610.

rs1468092156 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:127052355 (GRCh38)
2:127809931 (GRCh37)
Canonical SPDI:: NC_000002.12:127052354:T:C
Gene:: BIN1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa
MAF:: C=0.000028/1 (ALFA)
C=0.000006/1 (GnomAD_exomes)
C=0.000011/3 (TOPMED)
HGVS:: NC_000002.12:g.127052355T>C, NC_000002.11:g.127809931T>C, NG_012042.1:g.59934A>G, NM_139343.3:c.1271A>G, NM_139343.2:c.1271A>G, NM_139344.3:c.1142A>G, NM_139344.2:c.1142A>G, NM_139347.3:c.1046A>G, NM_139347.2:c.1046A>G, NM_139345.3:c.1010A>G, NM_139345.2:c.1010A>G, NM_139349.3:c.917A>G, NM_139349.2:c.917A>G, NM_001320641.2:c.1178A>G, NM_001320641.1:c.1178A>G, NM_001320642.1:c.1190A>G, NP_647593.1:p.Glu424Gly, NP_647594.1:p.Glu381Gly, NP_647597.1:p.Glu349Gly, NP_647595.1:p.Glu337Gly, NP_647599.1:p.Glu306Gly, NP_001307570.1:p.Glu393Gly, NP_001307571.1:p.Glu397Gly

Select item 146709825711.

rs1467098257 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:127076660 (GRCh38)
2:127834236 (GRCh37)
Canonical SPDI:: NC_000002.12:127076659:A:G
Gene:: BIN1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.127076660A>G, NC_000002.11:g.127834236A>G, NG_012042.1:g.35629T>C, NM_004305.4:c.131T>C, NM_004305.3:c.131T>C, NM_139343.3:c.131T>C, NM_139343.2:c.131T>C, NM_139344.3:c.131T>C, NM_139344.2:c.131T>C, NM_139347.3:c.131T>C, NM_139347.2:c.131T>C, NM_139345.3:c.131T>C, NM_139345.2:c.131T>C, NM_139346.3:c.131T>C, NM_139346.2:c.131T>C, NM_139348.3:c.131T>C, NM_139348.2:c.131T>C, NM_139349.3:c.131T>C, NM_139349.2:c.131T>C, NM_139350.3:c.131T>C, NM_139350.2:c.131T>C, NM_139351.3:c.131T>C, NM_139351.2:c.131T>C, NM_001320641.2:c.131T>C, NM_001320641.1:c.131T>C, NM_001320640.2:c.131T>C, NM_001320640.1:c.131T>C, NM_001320633.2:c.131T>C, NM_001320633.1:c.131T>C, NM_001320632.2:c.131T>C, NM_001320632.1:c.131T>C, NM_001320642.1:c.50T>C, NM_001320634.1:c.59T>C, NP_004296.1:p.Phe44Ser, NP_647593.1:p.Phe44Ser, NP_647594.1:p.Phe44Ser, NP_647597.1:p.Phe44Ser, NP_647595.1:p.Phe44Ser, NP_647596.1:p.Phe44Ser, NP_647598.1:p.Phe44Ser, NP_647599.1:p.Phe44Ser, NP_647600.1:p.Phe44Ser, NP_647601.1:p.Phe44Ser, NP_001307570.1:p.Phe44Ser, NP_001307569.1:p.Phe44Ser, NP_001307562.1:p.Phe44Ser, NP_001307561.1:p.Phe44Ser, NP_001307571.1:p.Phe17Ser, NP_001307563.1:p.Phe20Ser

Select item 146674845612.

rs1466748456 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:127048557 (GRCh38)
2:127806133 (GRCh37)
Canonical SPDI:: NC_000002.12:127048556:A:G
Gene:: BIN1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.127048557A>G, NC_000002.11:g.127806133A>G, NG_012042.1:g.63732T>C, NM_004305.4:c.1334T>C, NM_004305.3:c.1334T>C, NM_139343.3:c.1751T>C, NM_139343.2:c.1751T>C, NM_139344.3:c.1622T>C, NM_139344.2:c.1622T>C, NM_139347.3:c.1526T>C, NM_139347.2:c.1526T>C, NM_139345.3:c.1490T>C, NM_139345.2:c.1490T>C, NM_139346.3:c.1463T>C, NM_139346.2:c.1463T>C, NM_139348.3:c.1418T>C, NM_139348.2:c.1418T>C, NM_139349.3:c.1397T>C, NM_139349.2:c.1397T>C, NM_139350.3:c.1289T>C, NM_139350.2:c.1289T>C, NM_139351.3:c.1199T>C, NM_139351.2:c.1199T>C, NM_001320641.2:c.1658T>C, NM_001320641.1:c.1658T>C, NM_001320640.2:c.1511T>C, NM_001320640.1:c.1511T>C, NM_001320633.2:c.1382T>C, NM_001320633.1:c.1382T>C, NM_001320632.2:c.1244T>C, NM_001320632.1:c.1244T>C, NM_001320642.1:c.1670T>C, NM_001320634.1:c.1127T>C, NP_004296.1:p.Phe445Ser, NP_647593.1:p.Phe584Ser, NP_647594.1:p.Phe541Ser, NP_647597.1:p.Phe509Ser, NP_647595.1:p.Phe497Ser, NP_647596.1:p.Phe488Ser, NP_647598.1:p.Phe473Ser, NP_647599.1:p.Phe466Ser, NP_647600.1:p.Phe430Ser, NP_647601.1:p.Phe400Ser, NP_001307570.1:p.Phe553Ser, NP_001307569.1:p.Phe504Ser, NP_001307562.1:p.Phe461Ser, NP_001307561.1:p.Phe415Ser, NP_001307571.1:p.Phe557Ser, NP_001307563.1:p.Phe376Ser

Select item 146652878513.

rs1466528785 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:127070647 (GRCh38)
2:127828223 (GRCh37)
Canonical SPDI:: NC_000002.12:127070646:G:A
Gene:: BIN1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.127070647G>A, NC_000002.11:g.127828223G>A, NG_012042.1:g.41642C>T, NM_004305.4:c.221C>T, NM_004305.3:c.221C>T, NM_139343.3:c.221C>T, NM_139343.2:c.221C>T, NM_139344.3:c.221C>T, NM_139344.2:c.221C>T, NM_139347.3:c.221C>T, NM_139347.2:c.221C>T, NM_139345.3:c.221C>T, NM_139345.2:c.221C>T, NM_139346.3:c.221C>T, NM_139346.2:c.221C>T, NM_139348.3:c.221C>T, NM_139348.2:c.221C>T, NM_139349.3:c.221C>T, NM_139349.2:c.221C>T, NM_139350.3:c.221C>T, NM_139350.2:c.221C>T, NM_139351.3:c.221C>T, NM_139351.2:c.221C>T, NM_001320641.2:c.221C>T, NM_001320641.1:c.221C>T, NM_001320640.2:c.221C>T, NM_001320640.1:c.221C>T, NM_001320633.2:c.221C>T, NM_001320633.1:c.221C>T, NM_001320632.2:c.221C>T, NM_001320632.1:c.221C>T, NM_001320642.1:c.140C>T, NM_001320634.1:c.149C>T, NP_004296.1:p.Ala74Val, NP_647593.1:p.Ala74Val, NP_647594.1:p.Ala74Val, NP_647597.1:p.Ala74Val, NP_647595.1:p.Ala74Val, NP_647596.1:p.Ala74Val, NP_647598.1:p.Ala74Val, NP_647599.1:p.Ala74Val, NP_647600.1:p.Ala74Val, NP_647601.1:p.Ala74Val, NP_001307570.1:p.Ala74Val, NP_001307569.1:p.Ala74Val, NP_001307562.1:p.Ala74Val, NP_001307561.1:p.Ala74Val, NP_001307571.1:p.Ala47Val, NP_001307563.1:p.Ala50Val

Select item 146253332914.

rs1462533329 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 2:127059112 (GRCh38)
2:127816688 (GRCh37)
Canonical SPDI:: NC_000002.12:127059111:C:A
Gene:: BIN1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000005/1 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.127059112C>A, NC_000002.11:g.127816688C>A, NG_012042.1:g.53177G>T, NM_004305.4:c.853G>T, NM_004305.3:c.853G>T, NM_139343.3:c.901G>T, NM_139343.2:c.901G>T, NM_139344.3:c.901G>T, NM_139344.2:c.901G>T, NM_139347.3:c.808G>T, NM_139347.2:c.808G>T, NM_139345.3:c.901G>T, NM_139345.2:c.901G>T, NM_139346.3:c.853G>T, NM_139346.2:c.853G>T, NM_139348.3:c.808G>T, NM_139348.2:c.808G>T, NM_139349.3:c.808G>T, NM_139349.2:c.808G>T, NM_139350.3:c.808G>T, NM_139350.2:c.808G>T, NM_139351.3:c.808G>T, NM_139351.2:c.808G>T, NM_001320641.2:c.808G>T, NM_001320641.1:c.808G>T, NM_001320640.2:c.901G>T, NM_001320640.1:c.901G>T, NM_001320633.2:c.901G>T, NM_001320633.1:c.901G>T, NM_001320632.2:c.853G>T, NM_001320632.1:c.853G>T, NM_001320642.1:c.820G>T, NM_001320634.1:c.736G>T, NP_004296.1:p.Asp285Tyr, NP_647593.1:p.Asp301Tyr, NP_647594.1:p.Asp301Tyr, NP_647597.1:p.Asp270Tyr, NP_647595.1:p.Asp301Tyr, NP_647596.1:p.Asp285Tyr, NP_647598.1:p.Asp270Tyr, NP_647599.1:p.Asp270Tyr, NP_647600.1:p.Asp270Tyr, NP_647601.1:p.Asp270Tyr, NP_001307570.1:p.Asp270Tyr, NP_001307569.1:p.Asp301Tyr, NP_001307562.1:p.Asp301Tyr, NP_001307561.1:p.Asp285Tyr, NP_001307571.1:p.Asp274Tyr, NP_001307563.1:p.Asp246Tyr

Select item 145853915315.

rs1458539153 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:127106917 (GRCh38)
2:127864493 (GRCh37)
Canonical SPDI:: NC_000002.12:127106916:C:T
Gene:: BIN1 (Varview), LOC105373605 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,upstream_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0.000028/1 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000002.12:g.127106917C>T, NC_000002.11:g.127864493C>T, NG_012042.1:g.5372G>A, NM_004305.4:c.27G>A, NM_004305.3:c.27G>A, NM_139343.3:c.27G>A, NM_139343.2:c.27G>A, NM_139344.3:c.27G>A, NM_139344.2:c.27G>A, NM_139347.3:c.27G>A, NM_139347.2:c.27G>A, NM_139345.3:c.27G>A, NM_139345.2:c.27G>A, NM_139346.3:c.27G>A, NM_139346.2:c.27G>A, NM_139348.3:c.27G>A, NM_139348.2:c.27G>A, NM_139349.3:c.27G>A, NM_139349.2:c.27G>A, NM_139350.3:c.27G>A, NM_139350.2:c.27G>A, NM_139351.3:c.27G>A, NM_139351.2:c.27G>A, NM_001320641.2:c.27G>A, NM_001320641.1:c.27G>A, NM_001320640.2:c.27G>A, NM_001320640.1:c.27G>A, NM_001320633.2:c.27G>A, NM_001320633.1:c.27G>A, NM_001320632.2:c.27G>A, NM_001320632.1:c.27G>A

Select item 145852267216.

rs1458522672 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:127052324 (GRCh38)
2:127809900 (GRCh37)
Canonical SPDI:: NC_000002.12:127052323:C:T
Gene:: BIN1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: T=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.127052324C>T, NC_000002.11:g.127809900C>T, NG_012042.1:g.59965G>A, NM_139343.3:c.1302G>A, NM_139343.2:c.1302G>A, NM_139344.3:c.1173G>A, NM_139344.2:c.1173G>A, NM_139347.3:c.1077G>A, NM_139347.2:c.1077G>A, NM_139345.3:c.1041G>A, NM_139345.2:c.1041G>A, NM_139349.3:c.948G>A, NM_139349.2:c.948G>A, NM_001320641.2:c.1209G>A, NM_001320641.1:c.1209G>A, NM_001320642.1:c.1221G>A

Select item 145830854517.

rs1458308545 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:127070593 (GRCh38)
2:127828169 (GRCh37)
Canonical SPDI:: NC_000002.12:127070592:G:A
Gene:: BIN1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.127070593G>A, NC_000002.11:g.127828169G>A, NG_012042.1:g.41696C>T, NM_004305.4:c.275C>T, NM_004305.3:c.275C>T, NM_139343.3:c.275C>T, NM_139343.2:c.275C>T, NM_139344.3:c.275C>T, NM_139344.2:c.275C>T, NM_139347.3:c.275C>T, NM_139347.2:c.275C>T, NM_139345.3:c.275C>T, NM_139345.2:c.275C>T, NM_139346.3:c.275C>T, NM_139346.2:c.275C>T, NM_139348.3:c.275C>T, NM_139348.2:c.275C>T, NM_139349.3:c.275C>T, NM_139349.2:c.275C>T, NM_139350.3:c.275C>T, NM_139350.2:c.275C>T, NM_139351.3:c.275C>T, NM_139351.2:c.275C>T, NM_001320641.2:c.275C>T, NM_001320641.1:c.275C>T, NM_001320640.2:c.275C>T, NM_001320640.1:c.275C>T, NM_001320633.2:c.275C>T, NM_001320633.1:c.275C>T, NM_001320632.2:c.275C>T, NM_001320632.1:c.275C>T, NM_001320642.1:c.194C>T, NM_001320634.1:c.203C>T, NP_004296.1:p.Pro92Leu, NP_647593.1:p.Pro92Leu, NP_647594.1:p.Pro92Leu, NP_647597.1:p.Pro92Leu, NP_647595.1:p.Pro92Leu, NP_647596.1:p.Pro92Leu, NP_647598.1:p.Pro92Leu, NP_647599.1:p.Pro92Leu, NP_647600.1:p.Pro92Leu, NP_647601.1:p.Pro92Leu, NP_001307570.1:p.Pro92Leu, NP_001307569.1:p.Pro92Leu, NP_001307562.1:p.Pro92Leu, NP_001307561.1:p.Pro92Leu, NP_001307571.1:p.Pro65Leu, NP_001307563.1:p.Pro68Leu

Select item 145592660618.

rs1455926606 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:127070013 (GRCh38)
2:127827589 (GRCh37)
Canonical SPDI:: NC_000002.12:127070012:G:A
Gene:: BIN1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000021/3 (GnomAD)
A=0.000026/7 (TOPMED)
A=0.000248/4 (TOMMO)
HGVS:: NC_000002.12:g.127070013G>A, NC_000002.11:g.127827589G>A, NG_012042.1:g.42276C>T, NM_004305.4:c.393C>T, NM_004305.3:c.393C>T, NM_139343.3:c.393C>T, NM_139343.2:c.393C>T, NM_139344.3:c.393C>T, NM_139344.2:c.393C>T, NM_139347.3:c.393C>T, NM_139347.2:c.393C>T, NM_139345.3:c.393C>T, NM_139345.2:c.393C>T, NM_139346.3:c.393C>T, NM_139346.2:c.393C>T, NM_139348.3:c.393C>T, NM_139348.2:c.393C>T, NM_139349.3:c.393C>T, NM_139349.2:c.393C>T, NM_139350.3:c.393C>T, NM_139350.2:c.393C>T, NM_139351.3:c.393C>T, NM_139351.2:c.393C>T, NM_001320641.2:c.393C>T, NM_001320641.1:c.393C>T, NM_001320640.2:c.393C>T, NM_001320640.1:c.393C>T, NM_001320633.2:c.393C>T, NM_001320633.1:c.393C>T, NM_001320632.2:c.393C>T, NM_001320632.1:c.393C>T, NM_001320642.1:c.312C>T, NM_001320634.1:c.321C>T

Select item 145581104819.

rs1455811048 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 2:127050503 (GRCh38)
2:127808079 (GRCh37)
Canonical SPDI:: NC_000002.12:127050502:T:G
Gene:: BIN1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.127050503T>G, NC_000002.11:g.127808079T>G, NG_012042.1:g.61786A>C, NM_004305.4:c.1175A>C, NM_004305.3:c.1175A>C, NM_139343.3:c.1592A>C, NM_139343.2:c.1592A>C, NM_139344.3:c.1463A>C, NM_139344.2:c.1463A>C, NM_139347.3:c.1367A>C, NM_139347.2:c.1367A>C, NM_139345.3:c.1331A>C, NM_139345.2:c.1331A>C, NM_139346.3:c.1304A>C, NM_139346.2:c.1304A>C, NM_139348.3:c.1259A>C, NM_139348.2:c.1259A>C, NM_139349.3:c.1238A>C, NM_139349.2:c.1238A>C, NM_139350.3:c.1130A>C, NM_139350.2:c.1130A>C, NM_139351.3:c.1040A>C, NM_139351.2:c.1040A>C, NM_001320641.2:c.1499A>C, NM_001320641.1:c.1499A>C, NM_001320640.2:c.1352A>C, NM_001320640.1:c.1352A>C, NM_001320633.2:c.1223A>C, NM_001320633.1:c.1223A>C, NM_001320632.2:c.1085A>C, NM_001320632.1:c.1085A>C, NM_001320642.1:c.1511A>C, NM_001320634.1:c.968A>C, NP_004296.1:p.Tyr392Ser, NP_647593.1:p.Tyr531Ser, NP_647594.1:p.Tyr488Ser, NP_647597.1:p.Tyr456Ser, NP_647595.1:p.Tyr444Ser, NP_647596.1:p.Tyr435Ser, NP_647598.1:p.Tyr420Ser, NP_647599.1:p.Tyr413Ser, NP_647600.1:p.Tyr377Ser, NP_647601.1:p.Tyr347Ser, NP_001307570.1:p.Tyr500Ser, NP_001307569.1:p.Tyr451Ser, NP_001307562.1:p.Tyr408Ser, NP_001307561.1:p.Tyr362Ser, NP_001307571.1:p.Tyr504Ser, NP_001307563.1:p.Tyr323Ser

Select item 145239066920.

rs1452390669 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:127059129 (GRCh38)
2:127816705 (GRCh37)
Canonical SPDI:: NC_000002.12:127059128:T:C
Gene:: BIN1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.127059129T>C, NC_000002.11:g.127816705T>C, NG_012042.1:g.53160A>G, NM_004305.4:c.836A>G, NM_004305.3:c.836A>G, NM_139343.3:c.884A>G, NM_139343.2:c.884A>G, NM_139344.3:c.884A>G, NM_139344.2:c.884A>G, NM_139347.3:c.791A>G, NM_139347.2:c.791A>G, NM_139345.3:c.884A>G, NM_139345.2:c.884A>G, NM_139346.3:c.836A>G, NM_139346.2:c.836A>G, NM_139348.3:c.791A>G, NM_139348.2:c.791A>G, NM_139349.3:c.791A>G, NM_139349.2:c.791A>G, NM_139350.3:c.791A>G, NM_139350.2:c.791A>G, NM_139351.3:c.791A>G, NM_139351.2:c.791A>G, NM_001320641.2:c.791A>G, NM_001320641.1:c.791A>G, NM_001320640.2:c.884A>G, NM_001320640.1:c.884A>G, NM_001320633.2:c.884A>G, NM_001320633.1:c.884A>G, NM_001320632.2:c.836A>G, NM_001320632.1:c.836A>G, NM_001320642.1:c.803A>G, NM_001320634.1:c.719A>G, NP_004296.1:p.Lys279Arg, NP_647593.1:p.Lys295Arg, NP_647594.1:p.Lys295Arg, NP_647597.1:p.Lys264Arg, NP_647595.1:p.Lys295Arg, NP_647596.1:p.Lys279Arg, NP_647598.1:p.Lys264Arg, NP_647599.1:p.Lys264Arg, NP_647600.1:p.Lys264Arg, NP_647601.1:p.Lys264Arg, NP_001307570.1:p.Lys264Arg, NP_001307569.1:p.Lys295Arg, NP_001307562.1:p.Lys295Arg, NP_001307561.1:p.Lys279Arg, NP_001307571.1:p.Lys268Arg, NP_001307563.1:p.Lys240Arg

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