SNP Links for Protein (Select 5174535) - SNP

Links from Protein

Items: 1 to 20 of 374

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Select item 14880139031.

rs1488013903 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 18:13826011 (GRCh38)
18:13826010 (GRCh37)
Canonical SPDI:: NC_000018.10:13826010:C:T
Gene:: MC5R (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=0.000014/2 (GnomAD)
T=0.000342/1 (KOREAN)
HGVS:: NC_000018.10:g.13826011C>T, NC_000018.9:g.13826010C>T, NM_005913.3:c.246C>T, NM_005913.2:c.246C>T

Select item 14855933042.

rs1485593304 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 18:13826448 (GRCh38)
18:13826447 (GRCh37)
Canonical SPDI:: NC_000018.10:13826447:C:T
Gene:: MC5R (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000018.10:g.13826448C>T, NC_000018.9:g.13826447C>T, NM_005913.3:c.683C>T, NM_005913.2:c.683C>T, NP_005904.1:p.Ala228Val

Select item 14841868093.

rs1484186809 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 18:13826429 (GRCh38)
18:13826428 (GRCh37)
Canonical SPDI:: NC_000018.10:13826428:C:G
Gene:: MC5R (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000224/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000223/1 (Estonian)
C=0.5/1 (SGDP_PRJ)
HGVS:: NC_000018.10:g.13826429C>G, NC_000018.9:g.13826428C>G, NM_005913.3:c.664C>G, NM_005913.2:c.664C>G, NP_005904.1:p.Leu222Val

Select item 14827065674.

rs1482706567 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 18:13826331 (GRCh38)
18:13826330 (GRCh37)
Canonical SPDI:: NC_000018.10:13826330:G:A
Gene:: MC5R (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_000018.10:g.13826331G>A, NC_000018.9:g.13826330G>A, NM_005913.3:c.566G>A, NM_005913.2:c.566G>A, NP_005904.1:p.Cys189Tyr

Select item 14809971565.

rs1480997156 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 18:13826397 (GRCh38)
18:13826396 (GRCh37)
Canonical SPDI:: NC_000018.10:13826396:T:A
Gene:: MC5R (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000018.10:g.13826397T>A, NC_000018.9:g.13826396T>A, NM_005913.3:c.632T>A, NM_005913.2:c.632T>A, NP_005904.1:p.Leu211Gln

Select item 14788074236.

rs1478807423 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 18:13826562 (GRCh38)
18:13826561 (GRCh37)
Canonical SPDI:: NC_000018.10:13826561:A:G
Gene:: MC5R (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000018.10:g.13826562A>G, NC_000018.9:g.13826561A>G, NM_005913.3:c.797A>G, NM_005913.2:c.797A>G, NP_005904.1:p.Gln266Arg

Select item 14774009997.

rs1477400999 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 18:13825857 (GRCh38)
18:13825856 (GRCh37)
Canonical SPDI:: NC_000018.10:13825856:C:A
Gene:: MC5R (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000056/2 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000018.10:g.13825857C>A, NC_000018.9:g.13825856C>A, NM_005913.3:c.92C>A, NM_005913.2:c.92C>A, NP_005904.1:p.Ser31Ter

Select item 14755051328.

rs1475505132 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 18:13826093 (GRCh38)
18:13826092 (GRCh37)
Canonical SPDI:: NC_000018.10:13826092:T:C
Gene:: MC5R (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000018.10:g.13826093T>C, NC_000018.9:g.13826092T>C, NM_005913.3:c.328T>C, NM_005913.2:c.328T>C, NP_005904.1:p.Phe110Leu

Select item 14753932099.

rs1475393209 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 18:13826701 (GRCh38)
18:13826700 (GRCh37)
Canonical SPDI:: NC_000018.10:13826700:C:A
Gene:: MC5R (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000018.10:g.13826701C>A, NC_000018.9:g.13826700C>A, NM_005913.3:c.936C>A, NM_005913.2:c.936C>A, NP_005904.1:p.Cys312Ter

Select item 147518141910.

rs1475181419 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: 18:13826406 (GRCh38)
18:13826405 (GRCh37)
Canonical SPDI:: NC_000018.10:13826405:C:
Gene:: MC5R (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency
MAF:: -=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000018.10:g.13826406del, NC_000018.9:g.13826405del, NM_005913.3:c.641del, NM_005913.2:c.641del, NP_005904.1:p.Thr214fs

Select item 147354705411.

rs1473547054 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 18:13826649 (GRCh38)
18:13826648 (GRCh37)
Canonical SPDI:: NC_000018.10:13826648:A:G
Gene:: MC5R (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000018.10:g.13826649A>G, NC_000018.9:g.13826648A>G, NM_005913.3:c.884A>G, NM_005913.2:c.884A>G, NP_005904.1:p.Tyr295Cys

Select item 147108419412.

rs1471084194 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 18:13826012 (GRCh38)
18:13826011 (GRCh37)
Canonical SPDI:: NC_000018.10:13826011:A:G
Gene:: MC5R (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000018.10:g.13826012A>G, NC_000018.9:g.13826011A>G, NM_005913.3:c.247A>G, NM_005913.2:c.247A>G, NP_005904.1:p.Met83Val

Select item 146506807113.

rs1465068071 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 18:13826321 (GRCh38)
18:13826320 (GRCh37)
Canonical SPDI:: NC_000018.10:13826320:G:A
Gene:: MC5R (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000035/1 (TOMMO)
HGVS:: NC_000018.10:g.13826321G>A, NC_000018.9:g.13826320G>A, NM_005913.3:c.556G>A, NM_005913.2:c.556G>A, NP_005904.1:p.Val186Ile

Select item 146264376814.

rs1462643768 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 18:13826413 (GRCh38)
18:13826412 (GRCh37)
Canonical SPDI:: NC_000018.10:13826412:C:A
Gene:: MC5R (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000018.10:g.13826413C>A, NC_000018.9:g.13826412C>A, NM_005913.3:c.648C>A, NM_005913.2:c.648C>A

Select item 146181692315.

rs1461816923 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 18:13826656 (GRCh38)
18:13826655 (GRCh37)
Canonical SPDI:: NC_000018.10:13826655:CC:C
Gene:: MC5R (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000018.10:g.13826657del, NC_000018.9:g.13826656del, NM_005913.3:c.892del, NM_005913.2:c.892del, NP_005904.1:p.Arg298fs

Select item 146173855916.

rs1461738559 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 18:13826017 (GRCh38)
18:13826016 (GRCh37)
Canonical SPDI:: NC_000018.10:13826016:G:A
Gene:: MC5R (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000018.10:g.13826017G>A, NC_000018.9:g.13826016G>A, NM_005913.3:c.252G>A, NM_005913.2:c.252G>A

Select item 146170050417.

rs1461700504 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 18:13826704 (GRCh38)
18:13826703 (GRCh37)
Canonical SPDI:: NC_000018.10:13826703:T:A
Gene:: MC5R (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=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000018.10:g.13826704T>A, NC_000018.9:g.13826703T>A, NM_005913.3:c.939T>A, NM_005913.2:c.939T>A

Select item 145920480318.

rs1459204803 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 18:13826101 (GRCh38)
18:13826100 (GRCh37)
Canonical SPDI:: NC_000018.10:13826100:C:T
Gene:: MC5R (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: T=0.000007/1 (GnomAD)
HGVS:: NC_000018.10:g.13826101C>T, NC_000018.9:g.13826100C>T, NM_005913.3:c.336C>T, NM_005913.2:c.336C>T

Select item 145662243119.

rs1456622431 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 18:13826035 (GRCh38)
18:13826034 (GRCh37)
Canonical SPDI:: NC_000018.10:13826034:C:T
Gene:: MC5R (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000018.10:g.13826035C>T, NC_000018.9:g.13826034C>T, NM_005913.3:c.270C>T, NM_005913.2:c.270C>T

Select item 145624591220.

rs1456245912 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 18:13826442 (GRCh38)
18:13826441 (GRCh37)
Canonical SPDI:: NC_000018.10:13826441:G:A
Gene:: MC5R (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000026/7 (TOPMED)
A=0.000029/4 (GnomAD)
HGVS:: NC_000018.10:g.13826442G>A, NC_000018.9:g.13826441G>A, NM_005913.3:c.677G>A, NM_005913.2:c.677G>A, NP_005904.1:p.Ser226Asn

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