SNP Links for Protein (Select 34147513) - SNP

Links from Protein

Items: 1 to 20 of 126

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Select item 14870534981.

rs1487053498 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:128806437 (GRCh38)
3:128525280 (GRCh37)
Canonical SPDI:: NC_000003.12:128806436:C:T
Gene:: RAB7A (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: T=0./0 (Korea1K)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.128806437C>T, NC_000003.11:g.128525280C>T, NG_008070.1:g.85302C>T, NM_004637.6:c.246C>T, NM_004637.5:c.246C>T

Select item 14863177362.

rs1486317736 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:128813362 (GRCh38)
3:128532205 (GRCh37)
Canonical SPDI:: NC_000003.12:128813361:A:G
Gene:: RAB7A (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: G=0.000111/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.128813362A>G, NC_000003.11:g.128532205A>G, NG_008070.1:g.92227A>G, NM_004637.6:c.564A>G, NM_004637.5:c.564A>G, NG_061358.1:g.317A>G

Select item 14734792393.

rs1473479239 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:128813392 (GRCh38)
3:128532235 (GRCh37)
Canonical SPDI:: NC_000003.12:128813391:C:T
Gene:: RAB7A (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_000003.12:g.128813392C>T, NC_000003.11:g.128532235C>T, NG_008070.1:g.92257C>T, NM_004637.6:c.594C>T, NM_004637.5:c.594C>T, NG_061358.1:g.347C>T

Select item 14557107154.

rs1455710715 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:128807645 (GRCh38)
3:128526488 (GRCh37)
Canonical SPDI:: NC_000003.12:128807644:A:G
Gene:: RAB7A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.128807645A>G, NC_000003.11:g.128526488A>G, NG_008070.1:g.86510A>G, NM_004637.6:c.502A>G, NM_004637.5:c.502A>G, NP_004628.4:p.Thr168Ala

Select item 14463511105.

rs1446351110 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:128806579 (GRCh38)
3:128525422 (GRCh37)
Canonical SPDI:: NC_000003.12:128806578:G:A
Gene:: RAB7A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000066/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000223/1 (Estonian)
HGVS:: NC_000003.12:g.128806579G>A, NC_000003.11:g.128525422G>A, NG_008070.1:g.85444G>A, NM_004637.6:c.388G>A, NM_004637.5:c.388G>A, NP_004628.4:p.Glu130Lys

Select item 14411733976.

rs1441173397 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:128807617 (GRCh38)
3:128526460 (GRCh37)
Canonical SPDI:: NC_000003.12:128807616:G:A
Gene:: RAB7A (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.128807617G>A, NC_000003.11:g.128526460G>A, NG_008070.1:g.86482G>A, NM_004637.6:c.474G>A, NM_004637.5:c.474G>A

Select item 14312913617.

rs1431291361 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:128813376 (GRCh38)
3:128532219 (GRCh37)
Canonical SPDI:: NC_000003.12:128813375:A:G
Gene:: RAB7A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000051/1 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000003.12:g.128813376A>G, NC_000003.11:g.128532219A>G, NG_008070.1:g.92241A>G, NM_004637.6:c.578A>G, NM_004637.5:c.578A>G, NG_061358.1:g.331A>G, NP_004628.4:p.Asp193Gly

Select item 14276520748.

rs1427652074 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 3:128806461 (GRCh38)
3:128525304 (GRCh37)
Canonical SPDI:: NC_000003.12:128806460:G:T
Gene:: RAB7A (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
HGVS:: NC_000003.12:g.128806461G>T, NC_000003.11:g.128525304G>T, NG_008070.1:g.85326G>T, NM_004637.6:c.270G>T, NM_004637.5:c.270G>T

Select item 14154881859.

rs1415488185 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 3:128806499 (GRCh38)
3:128525342 (GRCh37)
Canonical SPDI:: NC_000003.12:128806498:G:T
Gene:: RAB7A (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)
HGVS:: NC_000003.12:g.128806499G>T, NC_000003.11:g.128525342G>T, NG_008070.1:g.85364G>T, NM_004637.6:c.308G>T, NM_004637.5:c.308G>T, NP_004628.4:p.Arg103Ile

Select item 141542528710.

rs1415425287 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 3:128813394 (GRCh38)
3:128532237 (GRCh37)
Canonical SPDI:: NC_000003.12:128813393:A:C,NC_000003.12:128813393:A:G
Gene:: RAB7A (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)
C=0.000546/1 (Korea1K)
HGVS:: NC_000003.12:g.128813394A>C, NC_000003.12:g.128813394A>G, NC_000003.11:g.128532237A>C, NC_000003.11:g.128532237A>G, NG_008070.1:g.92259A>C, NG_008070.1:g.92259A>G, NM_004637.6:c.596A>C, NM_004637.6:c.596A>G, NM_004637.5:c.596A>C, NM_004637.5:c.596A>G, NG_061358.1:g.349A>C, NG_061358.1:g.349A>G, NP_004628.4:p.Lys199Thr, NP_004628.4:p.Lys199Arg

Select item 141265815611.

rs1412658156 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 3:128806450 (GRCh38)
3:128525293 (GRCh37)
Canonical SPDI:: NC_000003.12:128806449:G:T
Gene:: RAB7A (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=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.128806450G>T, NC_000003.11:g.128525293G>T, NG_008070.1:g.85315G>T, NM_004637.6:c.259G>T, NM_004637.5:c.259G>T, NP_004628.4:p.Val87Leu

Select item 139945370112.

rs1399453701 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:128795371 (GRCh38)
3:128514214 (GRCh37)
Canonical SPDI:: NC_000003.12:128795370:A:G
Gene:: RAB7A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000003.12:g.128795371A>G, NC_000003.11:g.128514214A>G, NG_008070.1:g.74236A>G, NM_004637.6:c.4A>G, NM_004637.5:c.4A>G, NP_004628.4:p.Thr2Ala

Select item 139815317213.

rs1398153172 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 3:128806526 (GRCh38)
3:128525369 (GRCh37)
Canonical SPDI:: NC_000003.12:128806525:C:A
Gene:: RAB7A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000224/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000223/1 (Estonian)
HGVS:: NC_000003.12:g.128806526C>A, NC_000003.11:g.128525369C>A, NG_008070.1:g.85391C>A, NM_004637.6:c.335C>A, NM_004637.5:c.335C>A, NP_004628.4:p.Pro112His

Select item 139566384714.

rs1395663847 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 3:128813380 (GRCh38)
3:128532223 (GRCh37)
Canonical SPDI:: NC_000003.12:128813379:G:T
Gene:: RAB7A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000003.12:g.128813380G>T, NC_000003.11:g.128532223G>T, NG_008070.1:g.92245G>T, NM_004637.6:c.582G>T, NM_004637.5:c.582G>T, NG_061358.1:g.335G>T, NP_004628.4:p.Lys194Asn

Select item 137736126515.

rs1377361265 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:128807593 (GRCh38)
3:128526436 (GRCh37)
Canonical SPDI:: NC_000003.12:128807592:C:T
Gene:: RAB7A (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: T=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.128807593C>T, NC_000003.11:g.128526436C>T, NG_008070.1:g.86458C>T, NM_004637.6:c.450C>T, NM_004637.5:c.450C>T

Select item 135917308116.

rs1359173081 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 3:128806484 (GRCh38)
3:128525327 (GRCh37)
Canonical SPDI:: NC_000003.12:128806483:C:G
Gene:: RAB7A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.128806484C>G, NC_000003.11:g.128525327C>G, NG_008070.1:g.85349C>G, NM_004637.6:c.293C>G, NM_004637.5:c.293C>G, NP_004628.4:p.Thr98Ser

Select item 135547691117.

rs1355476911 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:128807652 (GRCh38)
3:128526495 (GRCh37)
Canonical SPDI:: NC_000003.12:128807651:C:T
Gene:: RAB7A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000035/1 (TOMMO)
HGVS:: NC_000003.12:g.128807652C>T, NC_000003.11:g.128526495C>T, NG_008070.1:g.86517C>T, NM_004637.6:c.509C>T, NM_004637.5:c.509C>T, NP_004628.4:p.Ala170Val

Select item 133980119118.

rs1339801191 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:128807558 (GRCh38)
3:128526401 (GRCh37)
Canonical SPDI:: NC_000003.12:128807557:G:A
Gene:: RAB7A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.128807558G>A, NC_000003.11:g.128526401G>A, NG_008070.1:g.86423G>A, NM_004637.6:c.415G>A, NM_004637.5:c.415G>A, NP_004628.4:p.Ala139Thr

Select item 133625328519.

rs1336253285 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:128806506 (GRCh38)
3:128525349 (GRCh37)
Canonical SPDI:: NC_000003.12:128806505:G:A
Gene:: RAB7A (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.128806506G>A, NC_000003.11:g.128525349G>A, NG_008070.1:g.85371G>A, NM_004637.6:c.315G>A, NM_004637.5:c.315G>A

Select item 133321660920.

rs1333216609 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:128807596 (GRCh38)
3:128526439 (GRCh37)
Canonical SPDI:: NC_000003.12:128807595:C:T
Gene:: RAB7A (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000003.12:g.128807596C>T, NC_000003.11:g.128526439C>T, NG_008070.1:g.86461C>T, NM_004637.6:c.453C>T, NM_004637.5:c.453C>T

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Items: 1 to 20 of 126

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