SNP Links for Gene (Select 350) - SNP

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Select item 14915066031.

rs1491506603 [Homo sapiens]

Variant type:: INS
Alleles:: ->GAAAGAAAGG,GAAAGAAAGGAAGG,GAAAGAAAGGAAGGAAGG,GAAAGGAAGG,GAGAAAGG [Show Flanks]
Chromosome:: 17:66221262 (GRCh38)
17:64217381 (GRCh37)
Canonical SPDI:: NC_000017.11:66221262::GAAAGAAAGG,NC_000017.11:66221262::GAAAGAAAGGAAGG,NC_000017.11:66221262::GAAAGAAAGGAAGGAAGG,NC_000017.11:66221262::GAAAGGAAGG,NC_000017.11:66221262::GAGAAAGG
Gene:: APOH (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GAAAGAAAGGAAGG=0./0 (ALFA)
HGVS:: NC_000017.11:g.66221262_66221263insGAAAGAAAGG, NC_000017.11:g.66221262_66221263insGAAAGAAAGGAAGG, NC_000017.11:g.66221262_66221263insGAAAGAAAGGAAGGAAGG, NC_000017.11:g.66221262_66221263insGAAAGGAAGG, NC_000017.11:g.66221262_66221263insGAGAAAGG, NC_000017.10:g.64217380_64217381insGAAAGAAAGG, NC_000017.10:g.64217380_64217381insGAAAGAAAGGAAGG, NC_000017.10:g.64217380_64217381insGAAAGAAAGGAAGGAAGG, NC_000017.10:g.64217380_64217381insGAAAGGAAGG, NC_000017.10:g.64217380_64217381insGAGAAAGG, NG_012045.1:g.13176_13177insCCTTTCTTTC, NG_012045.1:g.13176_13177insCCTTCCTTTCTTTC, NG_012045.1:g.13176_13177insCCTTCCTTCCTTTCTTTC, NG_012045.1:g.13176_13177insCCTTCCTTTC, NG_012045.1:g.13176_13177insCCTTTCTC

Select item 14913749482.

rs1491374948 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 17:66226894 (GRCh38)
17:64223013 (GRCh37)
Canonical SPDI:: NC_000017.11:66226894:A:AA
Gene:: APOH (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000017.11:g.66226895dup, NC_000017.10:g.64223013dup, NG_012045.1:g.7544dup

Select item 14913360043.

rs1491336004 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>- [Show Flanks]
Chromosome:: 17:66221263 (GRCh38)
17:64217381 (GRCh37)
Canonical SPDI:: NC_000017.11:66221261:AAA:A
Gene:: APOH (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
-=0.00095/16 (TOMMO)
HGVS:: NC_000017.11:g.66221263_66221264del, NC_000017.10:g.64217381_64217382del, NG_012045.1:g.13176_13177del

Select item 14912883994.

rs1491288399 has merged into rs10618003 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAAAAA [Show Flanks]
Chromosome:: 17:66216495 (GRCh38)
17:64212613 (GRCh37)
Canonical SPDI:: NC_000017.11:66216483:AAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000017.11:66216483:AAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000017.11:66216483:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000017.11:66216483:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000017.11:66216483:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000017.11:66216483:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000017.11:66216483:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA
Gene:: APOH (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0.00009/1 (ALFA)
-=0.175/7 (GENOME_DK)
-=0.25091/138 (NorthernSweden)
-=0.30636/1136 (TWINSUK)
-=0.31214/1203 (ALSPAC)
AA=0.38838/1945 (1000Genomes)
HGVS:: NC_000017.11:g.66216495_66216498del, NC_000017.11:g.66216496_66216498del, NC_000017.11:g.66216497_66216498del, NC_000017.11:g.66216498del, NC_000017.11:g.66216498dup, NC_000017.11:g.66216497_66216498dup, NC_000017.11:g.66216493_66216498dup, NC_000017.10:g.64212613_64212616del, NC_000017.10:g.64212614_64212616del, NC_000017.10:g.64212615_64212616del, NC_000017.10:g.64212616del, NC_000017.10:g.64212616dup, NC_000017.10:g.64212615_64212616dup, NC_000017.10:g.64212611_64212616dup, NG_012045.1:g.17952_17955del, NG_012045.1:g.17953_17955del, NG_012045.1:g.17954_17955del, NG_012045.1:g.17955del, NG_012045.1:g.17955dup, NG_012045.1:g.17954_17955dup, NG_012045.1:g.17950_17955dup

Select item 14912208215.

rs1491220821 has merged into rs748060781 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTT>-,TTTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT [Show Flanks]
Chromosome:: 17:66226901 (GRCh38)
17:64223019 (GRCh37)
Canonical SPDI:: NC_000017.11:66226895:TTTTTTTTTTT:TTTTT,NC_000017.11:66226895:TTTTTTTTTTT:TTTTTTTTT,NC_000017.11:66226895:TTTTTTTTTTT:TTTTTTTTTT,NC_000017.11:66226895:TTTTTTTTTTT:TTTTTTTTTTTT,NC_000017.11:66226895:TTTTTTTTTTT:TTTTTTTTTTTTT,NC_000017.11:66226895:TTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000017.11:66226895:TTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000017.11:66226895:TTTTTTTTTTT:TTTTTTTTTTTTTTTT
Gene:: APOH (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0./0 (ALFA)
TT=0.225/9 (GENOME_DK)
HGVS:: NC_000017.11:g.66226901_66226906del, NC_000017.11:g.66226905_66226906del, NC_000017.11:g.66226906del, NC_000017.11:g.66226906dup, NC_000017.11:g.66226905_66226906dup, NC_000017.11:g.66226904_66226906dup, NC_000017.11:g.66226903_66226906dup, NC_000017.11:g.66226902_66226906dup, NC_000017.10:g.64223019_64223024del, NC_000017.10:g.64223023_64223024del, NC_000017.10:g.64223024del, NC_000017.10:g.64223024dup, NC_000017.10:g.64223023_64223024dup, NC_000017.10:g.64223022_64223024dup, NC_000017.10:g.64223021_64223024dup, NC_000017.10:g.64223020_64223024dup, NG_012045.1:g.7538_7543del, NG_012045.1:g.7542_7543del, NG_012045.1:g.7543del, NG_012045.1:g.7543dup, NG_012045.1:g.7542_7543dup, NG_012045.1:g.7541_7543dup, NG_012045.1:g.7540_7543dup, NG_012045.1:g.7539_7543dup

Select item 14911934546.

rs1491193454 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 17:66216483 (GRCh38)
17:64212601 (GRCh37)
Canonical SPDI:: NC_000017.11:66216482:CA:
Gene:: APOH (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
HGVS:: NC_000017.11:g.66216483_66216484del, NC_000017.10:g.64212601_64212602del, NG_012045.1:g.17955_17956del

Select item 14910701917.

rs1491070191 has merged into rs35673901 [Homo sapiens]

Variant type:: DELINS
Alleles:: CC>-,C,CCC,CCCC,CCCCC,CCCCCC,CCCCCCC [Show Flanks]
Chromosome:: 17:66217354 (GRCh38)
17:64213472 (GRCh37)
Canonical SPDI:: NC_000017.11:66217344:CCCCCCCCCCC:CCCCCCCCC,NC_000017.11:66217344:CCCCCCCCCCC:CCCCCCCCCC,NC_000017.11:66217344:CCCCCCCCCCC:CCCCCCCCCCCC,NC_000017.11:66217344:CCCCCCCCCCC:CCCCCCCCCCCCC,NC_000017.11:66217344:CCCCCCCCCCC:CCCCCCCCCCCCCC,NC_000017.11:66217344:CCCCCCCCCCC:CCCCCCCCCCCCCCC,NC_000017.11:66217344:CCCCCCCCCCC:CCCCCCCCCCCCCCCC
Gene:: APOH (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCCCCCCCCCCC=0./0 (ALFA)
-=0.1813/908 (1000Genomes)
HGVS:: NC_000017.11:g.66217354_66217355del, NC_000017.11:g.66217355del, NC_000017.11:g.66217355dup, NC_000017.11:g.66217354_66217355dup, NC_000017.11:g.66217353_66217355dup, NC_000017.11:g.66217352_66217355dup, NC_000017.11:g.66217351_66217355dup, NC_000017.10:g.64213472_64213473del, NC_000017.10:g.64213473del, NC_000017.10:g.64213473dup, NC_000017.10:g.64213472_64213473dup, NC_000017.10:g.64213471_64213473dup, NC_000017.10:g.64213470_64213473dup, NC_000017.10:g.64213469_64213473dup, NG_012045.1:g.17093_17094del, NG_012045.1:g.17094del, NG_012045.1:g.17094dup, NG_012045.1:g.17093_17094dup, NG_012045.1:g.17092_17094dup, NG_012045.1:g.17091_17094dup, NG_012045.1:g.17090_17094dup

Select item 14910406918.

rs1491040691 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 17:66224492 (GRCh38)
17:64220610 (GRCh37)
Canonical SPDI:: NC_000017.11:66224490:AGA:A
Gene:: APOH (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000017.11:g.66224492_66224493del, NC_000017.10:g.64220610_64220611del, NG_012045.1:g.9947_9948del

Select item 14909200109.

rs1490920010 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:66228618 (GRCh38)
17:64224736 (GRCh37)
Canonical SPDI:: NC_000017.11:66228617:G:A
Gene:: APOH (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
A=0.000035/1 (TOMMO)
HGVS:: NC_000017.11:g.66228618G>A, NC_000017.10:g.64224736G>A, NG_012045.1:g.5821C>T

Select item 149088340410.

rs1490883404 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:66229489 (GRCh38)
17:64225607 (GRCh37)
Canonical SPDI:: NC_000017.11:66229488:T:C
Gene:: APOH (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000017.11:g.66229489T>C, NC_000017.10:g.64225607T>C, NG_012045.1:g.4950A>G

Select item 149084484911.

rs1490844849 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:66215259 (GRCh38)
17:64211377 (GRCh37)
Canonical SPDI:: NC_000017.11:66215258:G:A
Gene:: APOH (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000017.11:g.66215259G>A, NC_000017.10:g.64211377G>A, NG_012045.1:g.19180C>T

Select item 149043169612.

rs1490431696 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:66216642 (GRCh38)
17:64212760 (GRCh37)
Canonical SPDI:: NC_000017.11:66216641:C:T
Gene:: APOH (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.66216642C>T, NC_000017.10:g.64212760C>T, NG_012045.1:g.17797G>A

Select item 149034237713.

rs1490342377 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:66231093 (GRCh38)
17:64227211 (GRCh37)
Canonical SPDI:: NC_000017.11:66231092:T:C
Gene:: APOH (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_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_000017.11:g.66231093T>C, NC_000017.10:g.64227211T>C, NG_012045.1:g.3346A>G

Select item 149006030514.

rs1490060305 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 17:66224373 (GRCh38)
17:64220491 (GRCh37)
Canonical SPDI:: NC_000017.11:66224372:A:C
Gene:: APOH (Varview)
Functional Consequence:: intron_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_000017.11:g.66224373A>C, NC_000017.10:g.64220491A>C, NG_012045.1:g.10066T>G

Select item 148986575415.

rs1489865754 has merged into rs35488139 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAA>-,A,AA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAAAA [Show Flanks]
Chromosome:: 17:66216179 (GRCh38)
17:64212297 (GRCh37)
Canonical SPDI:: NC_000017.11:66216166:AAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000017.11:66216166:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000017.11:66216166:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000017.11:66216166:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000017.11:66216166:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000017.11:66216166:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000017.11:66216166:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000017.11:66216166:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000017.11:66216166:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000017.11:66216166:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: APOH (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
AA=0.425/17 (GENOME_DK)
HGVS:: NC_000017.11:g.66216179_66216181del, NC_000017.11:g.66216180_66216181del, NC_000017.11:g.66216181del, NC_000017.11:g.66216181dup, NC_000017.11:g.66216180_66216181dup, NC_000017.11:g.66216179_66216181dup, NC_000017.11:g.66216178_66216181dup, NC_000017.11:g.66216177_66216181dup, NC_000017.11:g.66216176_66216181dup, NC_000017.11:g.66216172_66216181dup, NC_000017.10:g.64212297_64212299del, NC_000017.10:g.64212298_64212299del, NC_000017.10:g.64212299del, NC_000017.10:g.64212299dup, NC_000017.10:g.64212298_64212299dup, NC_000017.10:g.64212297_64212299dup, NC_000017.10:g.64212296_64212299dup, NC_000017.10:g.64212295_64212299dup, NC_000017.10:g.64212294_64212299dup, NC_000017.10:g.64212290_64212299dup, NG_012045.1:g.18270_18272del, NG_012045.1:g.18271_18272del, NG_012045.1:g.18272del, NG_012045.1:g.18272dup, NG_012045.1:g.18271_18272dup, NG_012045.1:g.18270_18272dup, NG_012045.1:g.18269_18272dup, NG_012045.1:g.18268_18272dup, NG_012045.1:g.18267_18272dup, NG_012045.1:g.18263_18272dup

Select item 148967048316.

rs1489670483 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:66213261 (GRCh38)
17:64209379 (GRCh37)
Canonical SPDI:: NC_000017.11:66213260:A:G
Gene:: APOH (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000017.11:g.66213261A>G, NC_000017.10:g.64209379A>G, NG_012045.1:g.21178T>C

Select item 148884058917.

rs1488840589 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:66230994 (GRCh38)
17:64227112 (GRCh37)
Canonical SPDI:: NC_000017.11:66230993:G:C
Gene:: APOH (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.66230994G>C, NC_000017.10:g.64227112G>C, NG_012045.1:g.3445C>G

Select item 148882371318.

rs1488823713 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:66225687 (GRCh38)
17:64221805 (GRCh37)
Canonical SPDI:: NC_000017.11:66225686:C:T
Gene:: APOH (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000378/7 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000093/13 (GnomAD)
T=0.001339/6 (Estonian)
HGVS:: NC_000017.11:g.66225687C>T, NC_000017.10:g.64221805C>T, NG_012045.1:g.8752G>A

Select item 148877881219.

rs1488778812 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:66229277 (GRCh38)
17:64225395 (GRCh37)
Canonical SPDI:: NC_000017.11:66229276:G:T
Gene:: APOH (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.66229277G>T, NC_000017.10:g.64225395G>T, NG_012045.1:g.5162C>A

Select item 148863742620.

rs1488637426 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:66228899 (GRCh38)
17:64225017 (GRCh37)
Canonical SPDI:: NC_000017.11:66228898:C:G
Gene:: APOH (Varview)
Functional Consequence:: intron_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_000017.11:g.66228899C>G, NC_000017.10:g.64225017C>G, NG_012045.1:g.5540G>C

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