SNP Links for Gene (Select 89953) - SNP

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Links from Gene

Items: 1 to 20 of 4496

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Select item 14908897521.

rs1490889752 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:43067761 (GRCh38)
6:43035499 (GRCh37)
Canonical SPDI:: NC_000006.12:43067760:C:T
Gene:: KLC4 (Varview)
Functional Consequence:: downstream_transcript_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000008/1 (GnomAD)
T=0.000156/1 (1000Genomes)
T=0.000283/5 (TOMMO)
HGVS:: NC_000006.12:g.43067761C>T, NC_000006.11:g.43035499C>T

Select item 14907852902.

rs1490785290 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:43066433 (GRCh38)
6:43034171 (GRCh37)
Canonical SPDI:: NC_000006.12:43066432:C:T
Gene:: KLC4 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0.000047/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.43066433C>T, NC_000006.11:g.43034171C>T, NM_138343.4:c.699C>T, NM_138343.3:c.699C>T, NM_138343.2:c.699C>T, NM_201522.3:c.699C>T, NM_201522.2:c.699C>T, NM_201522.1:c.699C>T, NM_201523.3:c.753C>T, NM_201523.2:c.753C>T, NM_201523.1:c.753C>T, NM_201521.3:c.699C>T, NM_201521.2:c.699C>T, NM_201521.1:c.699C>T, NM_001289034.2:c.699C>T, NM_001289034.1:c.699C>T, NM_001289035.2:c.468C>T, NM_001289035.1:c.468C>T

Select item 14907204083.

rs1490720408 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 6:43060756 (GRCh38)
6:43028494 (GRCh37)
Canonical SPDI:: NC_000006.12:43060755:T:A
Gene:: MRPL2 (Varview), KLC4 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000023/6 (TOPMED)
HGVS:: NC_000006.12:g.43060756T>A, NC_000006.11:g.43028494T>A

Select item 14904000504.

rs1490400050 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:43068029 (GRCh38)
6:43035767 (GRCh37)
Canonical SPDI:: NC_000006.12:43068028:G:A
Gene:: KLC4 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.00008/1 (ALFA)
A=0.00001/1 (GnomAD)
HGVS:: NC_000006.12:g.43068029G>A, NC_000006.11:g.43035767G>A

Select item 14903017035.

rs1490301703 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 6:43064589 (GRCh38)
6:43032327 (GRCh37)
Canonical SPDI:: NC_000006.12:43064588:T:A
Gene:: KLC4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.43064589T>A, NC_000006.11:g.43032327T>A

Select item 14902574996.

rs1490257499 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 6:43060139 (GRCh38)
6:43027877 (GRCh37)
Canonical SPDI:: NC_000006.12:43060138:G:C
Gene:: MRPL2 (Varview), KLC4 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.43060139G>C, NC_000006.11:g.43027877G>C, NM_201522.3:c.-251G>C, NM_201522.2:c.-251G>C, NM_201523.3:c.-71G>C, NM_201523.2:c.-71G>C, NM_201523.1:c.-71G>C, NM_001289034.2:c.-69G>C, NM_001289034.1:c.-69G>C

Select item 14900927617.

rs1490092761 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:43062330 (GRCh38)
6:43030068 (GRCh37)
Canonical SPDI:: NC_000006.12:43062329:T:C
Gene:: KLC4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.43062330T>C, NC_000006.11:g.43030068T>C

Select item 14899313358.

rs1489931335 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:43069045 (GRCh38)
6:43036783 (GRCh37)
Canonical SPDI:: NC_000006.12:43069044:T:C
Gene:: KLC4 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000015/4 (TOPMED)
HGVS:: NC_000006.12:g.43069045T>C, NC_000006.11:g.43036783T>C

Select item 14899060149.

rs1489906014 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:43068219 (GRCh38)
6:43035957 (GRCh37)
Canonical SPDI:: NC_000006.12:43068218:A:G
Gene:: KLC4 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
G=0.000389/7 (TOMMO)
HGVS:: NC_000006.12:g.43068219A>G, NC_000006.11:g.43035957A>G

Select item 148981577110.

rs1489815771 [Homo sapiens]

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

Select item 148980634611.

rs1489806346 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 6:43070662 (GRCh38)
6:43038400 (GRCh37)
Canonical SPDI:: NC_000006.12:43070661:C:A
Gene:: KLC4 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.43070662C>A, NC_000006.11:g.43038400C>A

Select item 148976732612.

rs1489767326 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:43071852 (GRCh38)
6:43039590 (GRCh37)
Canonical SPDI:: NC_000006.12:43071851:A:G
Gene:: KLC4 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000023/6 (TOPMED)
G=0.000028/7 (GnomAD_exomes)
G=0.000079/11 (GnomAD)
HGVS:: NC_000006.12:g.43071852A>G, NC_000006.11:g.43039590A>G, NM_201522.3:c.1309A>G, NM_201522.2:c.1309A>G, NM_201522.1:c.1309A>G, NM_201523.3:c.1363A>G, NM_201523.2:c.1363A>G, NM_201523.1:c.1363A>G, NM_201521.3:c.1309A>G, NM_201521.2:c.1309A>G, NM_201521.1:c.1309A>G, NM_001289034.2:c.1309A>G, NM_001289034.1:c.1309A>G, NM_001289035.2:c.1078A>G, NM_001289035.1:c.1078A>G, NP_958930.1:p.Ser437Gly, NP_958931.1:p.Ser455Gly, NP_958929.1:p.Ser437Gly, NP_001275963.1:p.Ser437Gly, NP_001275964.1:p.Ser360Gly

Select item 148939806913.

rs1489398069 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:43063046 (GRCh38)
6:43030784 (GRCh37)
Canonical SPDI:: NC_000006.12:43063045:C:T
Gene:: KLC4 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.43063046C>T, NC_000006.11:g.43030784C>T, NM_138343.4:c.388C>T, NM_138343.3:c.388C>T, NM_138343.2:c.388C>T, NM_201522.3:c.388C>T, NM_201522.2:c.388C>T, NM_201522.1:c.388C>T, NM_201523.3:c.442C>T, NM_201523.2:c.442C>T, NM_201523.1:c.442C>T, NM_201521.3:c.388C>T, NM_201521.2:c.388C>T, NM_201521.1:c.388C>T, NM_001289034.2:c.388C>T, NM_001289034.1:c.388C>T

Select item 148935117814.

rs1489351178 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 6:43072679 (GRCh38)
6:43040417 (GRCh37)
Canonical SPDI:: NC_000006.12:43072678:G:T
Gene:: KLC4 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_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.43072679G>T, NC_000006.11:g.43040417G>T

Select item 148912807015.

rs1489128070 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 6:43067469 (GRCh38)
6:43035207 (GRCh37)
Canonical SPDI:: NC_000006.12:43067468:A:C
Gene:: KLC4 (Varview)
Functional Consequence:: downstream_transcript_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000006.12:g.43067469A>C, NC_000006.11:g.43035207A>C

Select item 148893775416.

rs1488937754 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:43070282 (GRCh38)
6:43038020 (GRCh37)
Canonical SPDI:: NC_000006.12:43070281:G:A
Gene:: KLC4 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.43070282G>A, NC_000006.11:g.43038020G>A, NG_074226.1:g.332G>A

Select item 148893727617.

rs1488937276 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:43071501 (GRCh38)
6:43039239 (GRCh37)
Canonical SPDI:: NC_000006.12:43071500:G:A
Gene:: KLC4 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000066/1 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000223/1 (Estonian)
HGVS:: NC_000006.12:g.43071501G>A, NC_000006.11:g.43039239G>A

Select item 148887362818.

rs1488873628 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:43071856 (GRCh38)
6:43039594 (GRCh37)
Canonical SPDI:: NC_000006.12:43071855:G:A
Gene:: KLC4 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000054/1 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000012/3 (GnomAD_exomes)
A=0.000014/2 (GnomAD)
A=0.000223/1 (Estonian)
HGVS:: NC_000006.12:g.43071856G>A, NC_000006.11:g.43039594G>A, NM_201522.3:c.1313G>A, NM_201522.2:c.1313G>A, NM_201522.1:c.1313G>A, NM_201523.3:c.1367G>A, NM_201523.2:c.1367G>A, NM_201523.1:c.1367G>A, NM_201521.3:c.1313G>A, NM_201521.2:c.1313G>A, NM_201521.1:c.1313G>A, NM_001289034.2:c.1313G>A, NM_001289034.1:c.1313G>A, NM_001289035.2:c.1082G>A, NM_001289035.1:c.1082G>A, NP_958930.1:p.Arg438Gln, NP_958931.1:p.Arg456Gln, NP_958929.1:p.Arg438Gln, NP_001275963.1:p.Arg438Gln, NP_001275964.1:p.Arg361Gln

Select item 148874446219.

rs1488744462 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 6:43059154 (GRCh38)
6:43026892 (GRCh37)
Canonical SPDI:: NC_000006.12:43059153:A:T
Gene:: MRPL2 (Varview), KLC4 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD_exomes)
T=0.00006/16 (TOPMED)
T=0.000078/11 (GnomAD)
HGVS:: NC_000006.12:g.43059154A>T, NC_000006.11:g.43026892A>T

Select item 148862220320.

rs1488622203 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:43074141 (GRCh38)
6:43041879 (GRCh37)
Canonical SPDI:: NC_000006.12:43074140:A:G
Gene:: KLC4 (Varview), KLC4-AS1 (Varview)
Functional Consequence:: downstream_transcript_variant,genic_downstream_transcript_variant,500B_downstream_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.43074141A>G, NC_000006.11:g.43041879A>G

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