SNP Links for Gene (Select 256356) - SNP

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Select item 14915496841.

rs1491549684 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 3:142212926 (GRCh38)
3:141931768 (GRCh37)
Canonical SPDI:: NC_000003.12:142212925:TG:
Gene:: GK5 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000003.12:g.142212926_142212927del, NC_000003.11:g.141931768_141931769del

Select item 14915178802.

rs1491517880 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 3:142182351 (GRCh38)
3:141901194 (GRCh37)
Canonical SPDI:: NC_000003.12:142182351::G
Gene:: GK5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000003.12:g.142182351_142182352insG, NC_000003.11:g.141901193_141901194insG

Select item 14913553183.

rs1491355318 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 3:142212829 (GRCh38)
3:141931671 (GRCh37)
Canonical SPDI:: NC_000003.12:142212827:TCT:T
Gene:: GK5 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
-=0.000015/2 (GnomAD)
HGVS:: NC_000003.12:g.142212829_142212830del, NC_000003.11:g.141931671_141931672del

Select item 14913059504.

rs1491305950 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>-,GG [Show Flanks]
Chromosome:: 3:142212927 (GRCh38)
3:141931769 (GRCh37)
Canonical SPDI:: NC_000003.12:142212926:GGGG:GGG,NC_000003.12:142212926:GGGG:GGGGG
Gene:: GK5 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: GGGGG=0./0 (ALFA)
-=0.000022/3 (GnomAD)
HGVS:: NC_000003.12:g.142212930del, NC_000003.12:g.142212930dup, NC_000003.11:g.141931772del, NC_000003.11:g.141931772dup

Select item 14912455685.

rs1491245568 has merged into rs58554339 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAAAAA [Show Flanks]
Chromosome:: 3:142185426 (GRCh38)
3:141904268 (GRCh37)
Canonical SPDI:: NC_000003.12:142185412:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000003.12:142185412:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000003.12:142185412:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000003.12:142185412:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000003.12:142185412:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000003.12:142185412:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000003.12:142185412:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000003.12:142185412:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: GK5 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
-=0.1749/674 (ALSPAC)
-=0.3966/1986 (1000Genomes)
HGVS:: NC_000003.12:g.142185426_142185429del, NC_000003.12:g.142185427_142185429del, NC_000003.12:g.142185428_142185429del, NC_000003.12:g.142185429del, NC_000003.12:g.142185429dup, NC_000003.12:g.142185428_142185429dup, NC_000003.12:g.142185426_142185429dup, NC_000003.12:g.142185422_142185429dup, NC_000003.11:g.141904268_141904271del, NC_000003.11:g.141904269_141904271del, NC_000003.11:g.141904270_141904271del, NC_000003.11:g.141904271del, NC_000003.11:g.141904271dup, NC_000003.11:g.141904270_141904271dup, NC_000003.11:g.141904268_141904271dup, NC_000003.11:g.141904264_141904271dup, NR_033289.2:n.1324_1327del, NR_033289.2:n.1325_1327del, NR_033289.2:n.1326_1327del, NR_033289.2:n.1327del, NR_033289.2:n.1327dup, NR_033289.2:n.1326_1327dup, NR_033289.2:n.1324_1327dup, NR_033289.2:n.1320_1327dup, NR_033289.1:n.1346_1349del, NR_033289.1:n.1347_1349del, NR_033289.1:n.1348_1349del, NR_033289.1:n.1349del, NR_033289.1:n.1349dup, NR_033289.1:n.1348_1349dup, NR_033289.1:n.1346_1349dup, NR_033289.1:n.1342_1349dup, NM_152776.1:c.*290dup, NM_152776.1:c.*288_*290del, NM_152776.1:c.*289_*290del, NM_152776.1:c.*290del, NM_152776.1:c.*289_*290dup, NM_152776.1:c.*288_*290dup, NM_152776.1:c.*286_*290dup, NM_152776.1:c.*282_*290dup

Select item 14911850616.

rs1491185061 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ACTTTTTTTTT,CCTTTTTTTTT [Show Flanks]
Chromosome:: 3:142212828 (GRCh38)
3:141931671 (GRCh37)
Canonical SPDI:: NC_000003.12:142212828:CTTTTTTTTT:CTTTTTTTTTACTTTTTTTTT,NC_000003.12:142212828:CTTTTTTTTT:CTTTTTTTTTCCTTTTTTTTT
Gene:: GK5 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: CTTTTTTTTTACTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000003.12:g.142212838_142212839insACTTTTTTTTT, NC_000003.12:g.142212838_142212839insCCTTTTTTTTT, NC_000003.11:g.141931680_141931681insACTTTTTTTTT, NC_000003.11:g.141931680_141931681insCCTTTTTTTTT

Select item 14911381607.

rs1491138160 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 3:142185412 (GRCh38)
3:141904254 (GRCh37)
Canonical SPDI:: NC_000003.12:142185411:CA:
Gene:: GK5 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
HGVS:: NC_000003.12:g.142185412_142185413del, NC_000003.11:g.141904254_141904255del, NR_033289.2:n.1327_1328del, NR_033289.1:n.1349_1350del, NM_152776.1:c.*290dup, NM_152776.1:c.*291del

Select item 14910694388.

rs1491069438 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: 3:142161091 (GRCh38)
3:141879933 (GRCh37)
Canonical SPDI:: NC_000003.12:142161089:TGT:T
Gene:: GK5 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.142161091_142161092del, NC_000003.11:g.141879933_141879934del, NM_001039547.3:c.*4531_*4532del, NM_001039547.2:c.*4531_*4532del, NR_033289.2:n.7334_7335del, NR_033289.1:n.7356_7357del, XM_024453436.2:c.*4531_*4532del, XM_047447898.1:c.*4531_*4532del

Select item 14910648189.

rs1491064818 has merged into rs57206350 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA [Show Flanks]
Chromosome:: 3:142187616 (GRCh38)
3:141906458 (GRCh37)
Canonical SPDI:: NC_000003.12:142187604:AAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000003.12:142187604:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000003.12:142187604:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000003.12:142187604:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000003.12:142187604:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000003.12:142187604:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000003.12:142187604:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000003.12:142187604:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:142187604:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA
Gene:: GK5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAA=0./0 (ALFA)
-=0.10068/59 (NorthernSweden)
-=0.275/11 (GENOME_DK)
-=0.39776/1992 (1000Genomes)
HGVS:: NC_000003.12:g.142187616_142187621del, NC_000003.12:g.142187618_142187621del, NC_000003.12:g.142187619_142187621del, NC_000003.12:g.142187620_142187621del, NC_000003.12:g.142187621del, NC_000003.12:g.142187621dup, NC_000003.12:g.142187620_142187621dup, NC_000003.12:g.142187616_142187621dup, NC_000003.12:g.142187615_142187621dup, NC_000003.11:g.141906458_141906463del, NC_000003.11:g.141906460_141906463del, NC_000003.11:g.141906461_141906463del, NC_000003.11:g.141906462_141906463del, NC_000003.11:g.141906463del, NC_000003.11:g.141906463dup, NC_000003.11:g.141906462_141906463dup, NC_000003.11:g.141906458_141906463dup, NC_000003.11:g.141906457_141906463dup

Select item 149099084810.

rs1490990848 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 3:142202253 (GRCh38)
3:141921095 (GRCh37)
Canonical SPDI:: NC_000003.12:142202252:C:A
Gene:: GK5 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.142202253C>A, NC_000003.11:g.141921095C>A

Select item 149094017811.

rs1490940178 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:142212642 (GRCh38)
3:141931484 (GRCh37)
Canonical SPDI:: NC_000003.12:142212641:A:G
Gene:: GK5 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000066/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000223/1 (Estonian)
HGVS:: NC_000003.12:g.142212642A>G, NC_000003.11:g.141931484A>G

Select item 149093990012.

rs1490939900 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:142159796 (GRCh38)
3:141878638 (GRCh37)
Canonical SPDI:: NC_000003.12:142159795:T:C
Gene:: GK5 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.142159796T>C, NC_000003.11:g.141878638T>C, NM_001039547.3:c.*5826A>G, NM_001039547.2:c.*5826A>G, NR_033289.2:n.8629A>G, NR_033289.1:n.8651A>G, XM_024453436.2:c.*5826A>G, XM_047447898.1:c.*5826A>G

Select item 149086671013.

rs1490866710 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 3:142160348 (GRCh38)
3:141879190 (GRCh37)
Canonical SPDI:: NC_000003.12:142160347:C:A
Gene:: GK5 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.142160348C>A, NC_000003.11:g.141879190C>A, NM_001039547.3:c.*5274G>T, NM_001039547.2:c.*5274G>T, NR_033289.2:n.8077G>T, NR_033289.1:n.8099G>T, XM_024453436.2:c.*5274G>T, XM_047447898.1:c.*5274G>T

Select item 149079620814.

rs1490796208 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:142168967 (GRCh38)
3:141887809 (GRCh37)
Canonical SPDI:: NC_000003.12:142168966:A:G
Gene:: GK5 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_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_000003.12:g.142168967A>G, NC_000003.11:g.141887809A>G

Select item 149078114915.

rs1490781149 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:142204630 (GRCh38)
3:141923472 (GRCh37)
Canonical SPDI:: NC_000003.12:142204629:C:T
Gene:: GK5 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000016/4 (GnomAD_exomes)
HGVS:: NC_000003.12:g.142204630C>T, NC_000003.11:g.141923472C>T

Select item 149078054216.

rs1490780542 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:142159028 (GRCh38)
3:141877870 (GRCh37)
Canonical SPDI:: NC_000003.12:142159027:A:G
Gene:: GK5 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.142159028A>G, NC_000003.11:g.141877870A>G, NM_001039547.3:c.*6594T>C, NM_001039547.2:c.*6594T>C, NR_033289.2:n.9397T>C, NR_033289.1:n.9419T>C, XM_024453436.2:c.*6594T>C, XM_047447898.1:c.*6594T>C

Select item 149074733617.

rs1490747336 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:142196762 (GRCh38)
3:141915604 (GRCh37)
Canonical SPDI:: NC_000003.12:142196761:A:G
Gene:: GK5 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000045/12 (TOPMED)
G=0.000057/8 (GnomAD)
HGVS:: NC_000003.12:g.142196762A>G, NC_000003.11:g.141915604A>G

Select item 149071542318.

rs1490715423 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 3:142217846 (GRCh38)
3:141936688 (GRCh37)
Canonical SPDI:: NC_000003.12:142217845:A:C
Gene:: GK5 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.142217846A>C, NC_000003.11:g.141936688A>C

Select item 149068747819.

rs1490687478 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:142201029 (GRCh38)
3:141919871 (GRCh37)
Canonical SPDI:: NC_000003.12:142201028:C:T
Gene:: GK5 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_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.142201029C>T, NC_000003.11:g.141919871C>T

Select item 149067559320.

rs1490675593 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 3:142177231 (GRCh38)
3:141896073 (GRCh37)
Canonical SPDI:: NC_000003.12:142177230:C:G,NC_000003.12:142177230:C:T
Gene:: GK5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.142177231C>G, NC_000003.12:g.142177231C>T, NC_000003.11:g.141896073C>G, NC_000003.11:g.141896073C>T

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