SNP Links for Gene (Select 84695) - SNP

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Select item 14915803241.

rs1491580324 [Homo sapiens]

Variant type:: INS
Alleles:: ->GA [Show Flanks]
Chromosome:: 2:74547711 (GRCh38)
2:74774839 (GRCh37)
Canonical SPDI:: NC_000002.12:74547711::GA
Gene:: DOK1 (Varview), LOXL3 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: GA=0.0011/5 (ALFA)
HGVS:: NC_000002.12:g.74547711_74547712insGA, NC_000002.11:g.74774838_74774839insGA, NG_033047.1:g.11224_11225insTC, NG_050617.1:g.4507_4508insGA

Select item 14914410382.

rs1491441038 [Homo sapiens]

Variant type:: SNV:
Alleles:: TT>-
Chromosome:: no mapping
Canonical SPDI:

Select item 14909453333.

rs1490945333 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:74556309 (GRCh38)
2:74783436 (GRCh37)
Canonical SPDI:: NC_000002.12:74556308:T:C
Gene:: DOK1 (Varview), LOXL3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,5_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.74556309T>C, NC_000002.11:g.74783436T>C, NG_033047.1:g.2627A>G, NG_050617.1:g.13105T>C, NM_001381.5:c.641T>C, NM_001381.4:c.641T>C, NM_001381.3:c.641T>C, NM_001318867.2:c.608T>C, NM_001318867.1:c.608T>C, NM_001318866.2:c.224T>C, NM_001318866.1:c.224T>C, NM_001197260.2:c.224T>C, NM_001197260.1:c.224T>C, NM_001318868.2:c.456T>C, NM_001318868.1:c.456T>C, NM_001318869.2:c.-2T>C, NM_001318869.1:c.-2T>C, NP_001372.1:p.Val214Ala, NP_001305796.1:p.Val203Ala, NP_001305795.1:p.Val75Ala, NP_001184189.1:p.Val75Ala

Select item 14907746804.

rs1490774680 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:74537288 (GRCh38)
2:74764415 (GRCh37)
Canonical SPDI:: NC_000002.12:74537287:T:C
Gene:: LOXL3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.74537288T>C, NC_000002.11:g.74764415T>C, NG_033047.1:g.21648A>G

Select item 14907243865.

rs1490724386 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:74557523 (GRCh38)
2:74784650 (GRCh37)
Canonical SPDI:: NC_000002.12:74557522:T:C
Gene:: DOK1 (Varview), LOXL3 (Varview), M1AP (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.74557523T>C, NC_000002.11:g.74784650T>C, NG_033047.1:g.1413A>G, NG_050617.1:g.14319T>C, NM_001381.5:c.*409T>C, NM_001381.4:c.*409T>C, NM_001381.3:c.*409T>C, NM_001318867.2:c.*409T>C, NM_001318867.1:c.*409T>C, NM_001318866.2:c.*409T>C, NM_001318866.1:c.*409T>C, NM_001197260.2:c.*409T>C, NM_001197260.1:c.*409T>C, NM_001318868.2:c.*1136T>C, NM_001318868.1:c.*1136T>C, NM_001318869.2:c.*409T>C, NM_001318869.1:c.*409T>C

Select item 14906767106.

rs1490676710 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:74541235 (GRCh38)
2:74768362 (GRCh37)
Canonical SPDI:: NC_000002.12:74541234:G:A
Gene:: LOXL3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.74541235G>A, NC_000002.11:g.74768362G>A, NG_033047.1:g.17701C>T

Select item 14906506597.

rs1490650659 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 2:74542447 (GRCh38)
2:74769574 (GRCh37)
Canonical SPDI:: NC_000002.12:74542446:T:A
Gene:: LOXL3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000002.12:g.74542447T>A, NC_000002.11:g.74769574T>A, NG_033047.1:g.16489A>T

Select item 14904962588.

rs1490496258 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 2:74550452 (GRCh38)
2:74777579 (GRCh37)
Canonical SPDI:: NC_000002.12:74550451:G:A,NC_000002.12:74550451:G:T
Gene:: DOK1 (Varview), LOXL3 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.74550452G>A, NC_000002.12:g.74550452G>T, NC_000002.11:g.74777579G>A, NC_000002.11:g.74777579G>T, NG_033047.1:g.8484C>T, NG_033047.1:g.8484C>A, NG_050617.1:g.7248G>A, NG_050617.1:g.7248G>T

Select item 14903557119.

rs1490355711 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:74533436 (GRCh38)
2:74760563 (GRCh37)
Canonical SPDI:: NC_000002.12:74533435:G:C
Gene:: HTRA2 (Varview), LOXL3 (Varview)
Functional Consequence:: downstream_transcript_variant,genic_downstream_transcript_variant,3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.74533436G>C, NC_000002.11:g.74760563G>C, NG_033047.1:g.25500C>G, NM_032603.5:c.*170C>G, NM_032603.4:c.*170C>G, NM_032603.3:c.*170C>G, NM_032603.2:c.*170C>G, NM_001289164.3:c.*170C>G, NM_001289164.2:c.*170C>G, NM_001289164.1:c.*170C>G, NM_001289165.2:c.*170C>G, NM_001289165.1:c.*170C>G, NG_012163.1:g.9032G>C, NM_145074.2:c.*451G>C, NR_135769.1:n.2470G>C, NM_001321727.1:c.*451G>C, NM_001321728.1:c.*451G>C, NR_135772.1:n.1902G>C, NR_135770.1:n.1898G>C, NR_135771.1:n.1882G>C, NG_033037.1:g.1412C>G, NM_013247.4:c.*451G>C, XM_011533134.3:c.*170C>G, XM_011533134.2:c.*170C>G, XM_011533134.1:c.*170C>G, XM_024453178.2:c.*170C>G, XM_024453178.1:c.*170C>G, XM_024453177.2:c.*170C>G, XM_024453177.1:c.*170C>G, XM_024453176.2:c.*170C>G, XM_024453176.1:c.*170C>G

Select item 149018210110.

rs1490182101 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 2:74540684 (GRCh38)
2:74767811 (GRCh37)
Canonical SPDI:: NC_000002.12:74540683:T:G
Gene:: LOXL3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.74540684T>G, NC_000002.11:g.74767811T>G, NG_033047.1:g.18252A>C

Select item 148996095511.

rs1489960955 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 2:74538553 (GRCh38)
2:74765680 (GRCh37)
Canonical SPDI:: NC_000002.12:74538552:G:A,NC_000002.12:74538552:G:T
Gene:: LOXL3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000057/15 (TOPMED)
A=0.000057/8 (GnomAD)
HGVS:: NC_000002.12:g.74538553G>A, NC_000002.12:g.74538553G>T, NC_000002.11:g.74765680G>A, NC_000002.11:g.74765680G>T, NG_033047.1:g.20383C>T, NG_033047.1:g.20383C>A

Select item 148996040312.

rs1489960403 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 2:74556933 (GRCh38)
2:74784060 (GRCh37)
Canonical SPDI:: NC_000002.12:74556932:C:G,NC_000002.12:74556932:C:T
Gene:: DOK1 (Varview), LOXL3 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant,missense_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0.000051/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.74556933C>G, NC_000002.12:g.74556933C>T, NC_000002.11:g.74784060C>G, NC_000002.11:g.74784060C>T, NG_033047.1:g.2003G>C, NG_033047.1:g.2003G>A, NG_050617.1:g.13729C>G, NG_050617.1:g.13729C>T, NM_001381.5:c.1265C>G, NM_001381.5:c.1265C>T, NM_001381.4:c.1265C>G, NM_001381.4:c.1265C>T, NM_001381.3:c.1265C>G, NM_001381.3:c.1265C>T, NM_001318867.2:c.1232C>G, NM_001318867.2:c.1232C>T, NM_001318867.1:c.1232C>G, NM_001318867.1:c.1232C>T, NM_001318866.2:c.848C>G, NM_001318866.2:c.848C>T, NM_001318866.1:c.848C>G, NM_001318866.1:c.848C>T, NM_001197260.2:c.848C>G, NM_001197260.2:c.848C>T, NM_001197260.1:c.848C>G, NM_001197260.1:c.848C>T, NM_001318868.2:c.*546C>G, NM_001318868.2:c.*546C>T, NM_001318868.1:c.*546C>G, NM_001318868.1:c.*546C>T, NM_001318869.2:c.623C>G, NM_001318869.2:c.623C>T, NM_001318869.1:c.623C>G, NM_001318869.1:c.623C>T, NP_001372.1:p.Ala422Gly, NP_001372.1:p.Ala422Val, NP_001305796.1:p.Ala411Gly, NP_001305796.1:p.Ala411Val, NP_001305795.1:p.Ala283Gly, NP_001305795.1:p.Ala283Val, NP_001184189.1:p.Ala283Gly, NP_001184189.1:p.Ala283Val, NP_001305798.1:p.Ala208Gly, NP_001305798.1:p.Ala208Val

Select item 148985312813.

rs1489853128 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:74557382 (GRCh38)
2:74784509 (GRCh37)
Canonical SPDI:: NC_000002.12:74557381:A:G
Gene:: DOK1 (Varview), LOXL3 (Varview), M1AP (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.74557382A>G, NC_000002.11:g.74784509A>G, NG_033047.1:g.1554T>C, NG_050617.1:g.14178A>G, NM_001381.5:c.*268A>G, NM_001381.4:c.*268A>G, NM_001381.3:c.*268A>G, NM_001318867.2:c.*268A>G, NM_001318867.1:c.*268A>G, NM_001318866.2:c.*268A>G, NM_001318866.1:c.*268A>G, NM_001197260.2:c.*268A>G, NM_001197260.1:c.*268A>G, NM_001318868.2:c.*995A>G, NM_001318868.1:c.*995A>G, NM_001318869.2:c.*268A>G, NM_001318869.1:c.*268A>G

Select item 148961086914.

rs1489610869 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:74539866 (GRCh38)
2:74766993 (GRCh37)
Canonical SPDI:: NC_000002.12:74539865:A:G
Gene:: LOXL3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000029/4 (GnomAD)
HGVS:: NC_000002.12:g.74539866A>G, NC_000002.11:g.74766993A>G, NG_033047.1:g.19070T>C

Select item 148960411015.

rs1489604110 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:74548943 (GRCh38)
2:74776070 (GRCh37)
Canonical SPDI:: NC_000002.12:74548942:C:G
Gene:: DOK1 (Varview), LOXL3 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000002.12:g.74548943C>G, NC_000002.11:g.74776070C>G, NG_033047.1:g.9993G>C, NG_050617.1:g.5739C>G

Select item 148951850316.

rs1489518503 [Homo sapiens]

Variant type:: INS
Alleles:: ->TTTT [Show Flanks]
Chromosome:: 2:74542647 (GRCh38)
2:74769775 (GRCh37)
Canonical SPDI:: NC_000002.12:74542647::TTTT
Gene:: LOXL3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TTTT=0.0002/1 (ALFA)
TTTT=0.0002/1 (Estonian)
HGVS:: NC_000002.12:g.74542647_74542648insTTTT, NC_000002.11:g.74769774_74769775insTTTT, NG_033047.1:g.16288_16289insAAAA

Select item 148944056017.

rs1489440560 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:74556827 (GRCh38)
2:74783954 (GRCh37)
Canonical SPDI:: NC_000002.12:74556826:T:C
Gene:: DOK1 (Varview), LOXL3 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant,missense_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000002.12:g.74556827T>C, NC_000002.11:g.74783954T>C, NG_033047.1:g.2109A>G, NG_050617.1:g.13623T>C, NM_001381.5:c.1159T>C, NM_001381.4:c.1159T>C, NM_001381.3:c.1159T>C, NM_001318867.2:c.1126T>C, NM_001318867.1:c.1126T>C, NM_001318866.2:c.742T>C, NM_001318866.1:c.742T>C, NM_001197260.2:c.742T>C, NM_001197260.1:c.742T>C, NM_001318868.2:c.*440T>C, NM_001318868.1:c.*440T>C, NM_001318869.2:c.517T>C, NM_001318869.1:c.517T>C, NP_001372.1:p.Trp387Arg, NP_001305796.1:p.Trp376Arg, NP_001305795.1:p.Trp248Arg, NP_001184189.1:p.Trp248Arg, NP_001305798.1:p.Trp173Arg

Select item 148925494718.

rs1489254947 [Homo sapiens]

Variant type:: DELINS
Alleles:: CAAAACAA>- [Show Flanks]
Chromosome:: 2:74544316 (GRCh38)
2:74771443 (GRCh37)
Canonical SPDI:: NC_000002.12:74544313:AACAAAACAA:AA
Gene:: LOXL3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.74544316_74544323del, NC_000002.11:g.74771443_74771450del, NG_033047.1:g.14615_14622del, NG_050617.1:g.1112_1119del

Select item 148914362219.

rs1489143622 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 2:74543455 (GRCh38)
2:74770582 (GRCh37)
Canonical SPDI:: NC_000002.12:74543454:A:C
Gene:: LOXL3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.74543455A>C, NC_000002.11:g.74770582A>C, NG_033047.1:g.15481T>G, NG_050617.1:g.251A>C

Select item 148901934720.

rs1489019347 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:74540112 (GRCh38)
2:74767239 (GRCh37)
Canonical SPDI:: NC_000002.12:74540111:G:A
Gene:: LOXL3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000023/6 (TOPMED)
HGVS:: NC_000002.12:g.74540112G>A, NC_000002.11:g.74767239G>A, NG_033047.1:g.18824C>T

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