SNP Links for Protein (Select 20302038) - SNP

Links from Protein

Items: 1 to 20 of 292

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Select item 14880326951.

rs1488032695 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 6:149582552 (GRCh38)
6:149903688 (GRCh37)
Canonical SPDI:: NC_000006.12:149582551:C:A
Gene:: GINM1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000006.12:g.149582552C>A, NC_000006.11:g.149903688C>A, NM_138785.5:c.830C>A, NM_138785.4:c.830C>A, NM_138785.3:c.830C>A, NP_620140.1:p.Ala277Glu

Select item 14858733442.

rs1485873344 [Homo sapiens]

Variant type:: DEL
Alleles:: CCTCTCC>- [Show Flanks]
Chromosome:: 6:149579977 (GRCh38)
6:149901113 (GRCh37)
Canonical SPDI:: NC_000006.12:149579976:CCTCTCC:
Gene:: GINM1 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.0002/1 (ALFA)
-=0.0002/1 (Estonian)
HGVS:: NC_000006.12:g.149579977_149579983del, NC_000006.11:g.149901113_149901119del, NM_138785.5:c.573_579del, NM_138785.4:c.573_579del, NM_138785.3:c.573_579del, NP_620140.1:p.Asn191fs

Select item 14854302533.

rs1485430253 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 6:149572571 (GRCh38)
6:149893707 (GRCh37)
Canonical SPDI:: NC_000006.12:149572570:G:T
Gene:: GINM1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.149572571G>T, NC_000006.11:g.149893707G>T, NM_138785.5:c.245G>T, NM_138785.4:c.245G>T, NM_138785.3:c.245G>T, NP_620140.1:p.Gly82Val

Select item 14851797564.

rs1485179756 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 6:149572327 (GRCh38)
6:149893463 (GRCh37)
Canonical SPDI:: NC_000006.12:149572326:G:T
Gene:: GINM1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_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_000006.12:g.149572327G>T, NC_000006.11:g.149893463G>T, NM_138785.5:c.163G>T, NM_138785.4:c.163G>T, NM_138785.3:c.163G>T, NP_620140.1:p.Asp55Tyr

Select item 14796937455.

rs1479693745 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 6:149582451 (GRCh38)
6:149903587 (GRCh37)
Canonical SPDI:: NC_000006.12:149582450:G:T
Gene:: GINM1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.149582451G>T, NC_000006.11:g.149903587G>T, NM_138785.5:c.729G>T, NM_138785.4:c.729G>T, NM_138785.3:c.729G>T, NP_620140.1:p.Gln243His

Select item 14759804976.

rs1475980497 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:149578904 (GRCh38)
6:149900040 (GRCh37)
Canonical SPDI:: NC_000006.12:149578903:T:C
Gene:: GINM1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000006.12:g.149578904T>C, NC_000006.11:g.149900040T>C, NM_138785.5:c.360T>C, NM_138785.4:c.360T>C, NM_138785.3:c.360T>C

Select item 14697452707.

rs1469745270 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:149572586 (GRCh38)
6:149893722 (GRCh37)
Canonical SPDI:: NC_000006.12:149572585:G:A
Gene:: GINM1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000006.12:g.149572586G>A, NC_000006.11:g.149893722G>A, NM_138785.5:c.260G>A, NM_138785.4:c.260G>A, NM_138785.3:c.260G>A, NP_620140.1:p.Ser87Asn

Select item 14679252378.

rs1467925237 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 6:149578973 (GRCh38)
6:149900109 (GRCh37)
Canonical SPDI:: NC_000006.12:149578972:A:T
Gene:: GINM1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.149578973A>T, NC_000006.11:g.149900109A>T, NM_138785.5:c.429A>T, NM_138785.4:c.429A>T, NM_138785.3:c.429A>T, NP_620140.1:p.Gln143His

Select item 14631091599.

rs1463109159 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 6:149580701 (GRCh38)
6:149901837 (GRCh37)
Canonical SPDI:: NC_000006.12:149580700:C:A
Gene:: GINM1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000006.12:g.149580701C>A, NC_000006.11:g.149901837C>A, NM_138785.5:c.695C>A, NM_138785.4:c.695C>A, NM_138785.3:c.695C>A, NP_620140.1:p.Ala232Glu

Select item 146076984110.

rs1460769841 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:149590777 (GRCh38)
6:149911913 (GRCh37)
Canonical SPDI:: NC_000006.12:149590776:A:G
Gene:: GINM1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000023/6 (TOPMED)
HGVS:: NC_000006.12:g.149590777A>G, NC_000006.11:g.149911913A>G, NM_138785.5:c.932A>G, NM_138785.4:c.932A>G, NM_138785.3:c.932A>G, NP_620140.1:p.Asn311Ser

Select item 146000537011.

rs1460005370 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:149582486 (GRCh38)
6:149903622 (GRCh37)
Canonical SPDI:: NC_000006.12:149582485:T:C
Gene:: GINM1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.149582486T>C, NC_000006.11:g.149903622T>C, NM_138785.5:c.764T>C, NM_138785.4:c.764T>C, NM_138785.3:c.764T>C, NP_620140.1:p.Phe255Ser

Select item 145869731512.

rs1458697315 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 6:149572524 (GRCh38)
6:149893660 (GRCh37)
Canonical SPDI:: NC_000006.12:149572523:C:G,NC_000006.12:149572523:C:T
Gene:: GINM1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.149572524C>G, NC_000006.12:g.149572524C>T, NC_000006.11:g.149893660C>G, NC_000006.11:g.149893660C>T, NM_138785.5:c.198C>G, NM_138785.5:c.198C>T, NM_138785.4:c.198C>G, NM_138785.4:c.198C>T, NM_138785.3:c.198C>G, NM_138785.3:c.198C>T

Select item 144686868813.

rs1446868688 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 6:149582475 (GRCh38)
6:149903611 (GRCh37)
Canonical SPDI:: NC_000006.12:149582474:T:A
Gene:: GINM1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.149582475T>A, NC_000006.11:g.149903611T>A, NM_138785.5:c.753T>A, NM_138785.4:c.753T>A, NM_138785.3:c.753T>A, NP_620140.1:p.Asp251Glu

Select item 144665669814.

rs1446656698 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:149579965 (GRCh38)
6:149901101 (GRCh37)
Canonical SPDI:: NC_000006.12:149579964:T:C
Gene:: GINM1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_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_000006.12:g.149579965T>C, NC_000006.11:g.149901101T>C, NM_138785.5:c.561T>C, NM_138785.4:c.561T>C, NM_138785.3:c.561T>C

Select item 144623637415.

rs1446236374 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:149566477 (GRCh38)
6:149887613 (GRCh37)
Canonical SPDI:: NC_000006.12:149566476:C:T
Gene:: GINM1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000006.12:g.149566477C>T, NC_000006.11:g.149887613C>T, NM_138785.5:c.63C>T, NM_138785.4:c.63C>T, NM_138785.3:c.63C>T

Select item 144525783616.

rs1445257836 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:149579842 (GRCh38)
6:149900978 (GRCh37)
Canonical SPDI:: NC_000006.12:149579841:A:G
Gene:: GINM1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.149579842A>G, NC_000006.11:g.149900978A>G, NM_138785.5:c.438A>G, NM_138785.4:c.438A>G, NM_138785.3:c.438A>G

Select item 144443378717.

rs1444433787 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:149579904 (GRCh38)
6:149901040 (GRCh37)
Canonical SPDI:: NC_000006.12:149579903:A:G
Gene:: GINM1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000142/2 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000029/4 (GnomAD)
G=0.00003/8 (TOPMED)
HGVS:: NC_000006.12:g.149579904A>G, NC_000006.11:g.149901040A>G, NM_138785.5:c.500A>G, NM_138785.4:c.500A>G, NM_138785.3:c.500A>G, NP_620140.1:p.Tyr167Cys

Select item 143650940818.

rs1436509408 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:149578925 (GRCh38)
6:149900061 (GRCh37)
Canonical SPDI:: NC_000006.12:149578924:G:A
Gene:: GINM1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.149578925G>A, NC_000006.11:g.149900061G>A, NM_138785.5:c.381G>A, NM_138785.4:c.381G>A, NM_138785.3:c.381G>A

Select item 143341332519.

rs1433413325 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 6:149590828 (GRCh38)
6:149911964 (GRCh37)
Canonical SPDI:: NC_000006.12:149590827:C:G,NC_000006.12:149590827:C:T
Gene:: GINM1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000028/1 (ALFA)
T=0.000015/4 (TOPMED)
T=0.000021/3 (GnomAD)
G=0.000035/1 (TOMMO)
HGVS:: NC_000006.12:g.149590828C>G, NC_000006.12:g.149590828C>T, NC_000006.11:g.149911964C>G, NC_000006.11:g.149911964C>T, NM_138785.5:c.983C>G, NM_138785.5:c.983C>T, NM_138785.4:c.983C>G, NM_138785.4:c.983C>T, NM_138785.3:c.983C>G, NM_138785.3:c.983C>T, NP_620140.1:p.Thr328Arg, NP_620140.1:p.Thr328Ile

Select item 143309511320.

rs1433095113 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:149590819 (GRCh38)
6:149911955 (GRCh37)
Canonical SPDI:: NC_000006.12:149590818:A:G
Gene:: GINM1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000006.12:g.149590819A>G, NC_000006.11:g.149911955A>G, NM_138785.5:c.974A>G, NM_138785.4:c.974A>G, NM_138785.3:c.974A>G, NP_620140.1:p.Glu325Gly

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