SNP Links for Gene (Select 3167) - SNP

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Items: 1 to 20 of 2868

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Select item 14906893141.

rs1490689314 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 10:123145559 (GRCh38)
10:124905075 (GRCh37)
Canonical SPDI:: NC_000010.11:123145558:G:C
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000029/4 (GnomAD)
HGVS:: NC_000010.11:g.123145559G>C, NC_000010.10:g.124905075G>C

Select item 14905006562.

rs1490500656 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:123146004 (GRCh38)
10:124905520 (GRCh37)
Canonical SPDI:: NC_000010.11:123146003:G:A
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.123146004G>A, NC_000010.10:g.124905520G>A

Select item 14900091503.

rs1490009150 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 10:123146366 (GRCh38)
10:124905882 (GRCh37)
Canonical SPDI:: NC_000010.11:123146365:G:C
Gene:: HMX2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.123146366G>C, NC_000010.10:g.124905882G>C

Select item 14897698864.

rs1489769886 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 10:123142736 (GRCh38)
10:124902252 (GRCh37)
Canonical SPDI:: NC_000010.11:123142735:G:T
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.123142736G>T, NC_000010.10:g.124902252G>T

Select item 14897431675.

rs1489743167 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:123145482 (GRCh38)
10:124904998 (GRCh37)
Canonical SPDI:: NC_000010.11:123145481:T:C
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000010.11:g.123145482T>C, NC_000010.10:g.124904998T>C

Select item 14897134536.

rs1489713453 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 10:123147274 (GRCh38)
10:124906790 (GRCh37)
Canonical SPDI:: NC_000010.11:123147273:T:C,NC_000010.11:123147273:T:G
Gene:: HMX2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000010.11:g.123147274T>C, NC_000010.11:g.123147274T>G, NC_000010.10:g.124906790T>C, NC_000010.10:g.124906790T>G

Select item 14892755447.

rs1489275544 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 10:123147356 (GRCh38)
10:124906872 (GRCh37)
Canonical SPDI:: NC_000010.11:123147355:C:G,NC_000010.11:123147355:C:T
Gene:: HMX2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.123147356C>G, NC_000010.11:g.123147356C>T, NC_000010.10:g.124906872C>G, NC_000010.10:g.124906872C>T

Select item 14891626368.

rs1489162636 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:123150009 (GRCh38)
10:124909525 (GRCh37)
Canonical SPDI:: NC_000010.11:123150008:G:A
Gene:: HMX2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.123150009G>A, NC_000010.10:g.124909525G>A, NG_033794.1:g.766G>A, NG_079141.1:g.157G>A, NM_005519.2:c.708G>A, NM_005519.1:c.708G>A

Select item 14890515889.

rs1489051588 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:123149605 (GRCh38)
10:124909121 (GRCh37)
Canonical SPDI:: NC_000010.11:123149604:G:A
Gene:: HMX2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.123149605G>A, NC_000010.10:g.124909121G>A, NG_033794.1:g.362G>A, NM_005519.2:c.304G>A, NM_005519.1:c.304G>A, NP_005510.1:p.Gly102Ser

Select item 148869708610.

rs1488697086 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 10:123148490 (GRCh38)
10:124908006 (GRCh37)
Canonical SPDI:: NC_000010.11:123148489:G:C,NC_000010.11:123148489:G:T
Gene:: HMX2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
C=0.00006/1 (TOMMO)
HGVS:: NC_000010.11:g.123148490G>C, NC_000010.11:g.123148490G>T, NC_000010.10:g.124908006G>C, NC_000010.10:g.124908006G>T, NM_005519.2:c.112G>C, NM_005519.2:c.112G>T, NM_005519.1:c.112G>C, NM_005519.1:c.112G>T, NP_005510.1:p.Val38Leu, NP_005510.1:p.Val38Phe

Select item 148795909311.

rs1487959093 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 10:123144426 (GRCh38)
10:124903942 (GRCh37)
Canonical SPDI:: NC_000010.11:123144425:A:C
Validated:: by frequency
MAF:: C=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.123144426A>C, NC_000010.10:g.124903942A>C

Select item 148789293012.

rs1487892930 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:123144295 (GRCh38)
10:124903811 (GRCh37)
Canonical SPDI:: NC_000010.11:123144294:C:T
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000010.11:g.123144295C>T, NC_000010.10:g.124903811C>T

Select item 148788506713.

rs1487885067 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 10:123143620 (GRCh38)
10:124903136 (GRCh37)
Canonical SPDI:: NC_000010.11:123143619:C:A,NC_000010.11:123143619:C:G,NC_000010.11:123143619:C:T
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
A=0.00006/1 (TOMMO)
T=0.00016/1 (1000Genomes)
C=0.5/1 (SGDP_PRJ)
HGVS:: NC_000010.11:g.123143620C>A, NC_000010.11:g.123143620C>G, NC_000010.11:g.123143620C>T, NC_000010.10:g.124903136C>A, NC_000010.10:g.124903136C>G, NC_000010.10:g.124903136C>T

Select item 148785771114.

rs1487857711 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:123142502 (GRCh38)
10:124902018 (GRCh37)
Canonical SPDI:: NC_000010.11:123142501:G:A
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000108/2 (ALFA)
A=0.00006/16 (TOPMED)
A=0.000078/11 (GnomAD)
A=0.000223/1 (Estonian)
HGVS:: NC_000010.11:g.123142502G>A, NC_000010.10:g.124902018G>A

Select item 148775850315.

rs1487758503 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:123145421 (GRCh38)
10:124904937 (GRCh37)
Canonical SPDI:: NC_000010.11:123145420:C:T
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000035/1 (TOMMO)
HGVS:: NC_000010.11:g.123145421C>T, NC_000010.10:g.124904937C>T

Select item 148763198516.

rs1487631985 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:123145258 (GRCh38)
10:124904774 (GRCh37)
Canonical SPDI:: NC_000010.11:123145257:G:A
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000038/10 (TOPMED)
A=0.000043/6 (GnomAD)
HGVS:: NC_000010.11:g.123145258G>A, NC_000010.10:g.124904774G>A

Select item 148733140117.

rs1487331401 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:123145106 (GRCh38)
10:124904622 (GRCh37)
Canonical SPDI:: NC_000010.11:123145105:G:A
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.123145106G>A, NC_000010.10:g.124904622G>A

Select item 148687907918.

rs1486879079 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:123144369 (GRCh38)
10:124903885 (GRCh37)
Canonical SPDI:: NC_000010.11:123144368:C:T
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000010.11:g.123144369C>T, NC_000010.10:g.124903885C>T

Select item 148661853219.

rs1486618532 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 10:123148227 (GRCh38)
10:124907743 (GRCh37)
Canonical SPDI:: NC_000010.11:123148226:A:T
Gene:: HMX2 (Varview)
Functional Consequence:: 5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000010.11:g.123148227A>T, NC_000010.10:g.124907743A>T, NM_005519.2:c.-152A>T, NM_005519.1:c.-152A>T

Select item 148640045220.

rs1486400452 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:123142997 (GRCh38)
10:124902513 (GRCh37)
Canonical SPDI:: NC_000010.11:123142996:A:G
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.123142997A>G, NC_000010.10:g.124902513A>G

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