SNP Links for Gene (Select 81932) - SNP

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Select item 14915848391.

rs1491584839 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: 9:113376513 (GRCh38)
9:116138793 (GRCh37)
Canonical SPDI:: NC_000009.12:113376512:AA:
Gene:: HDHD3 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant
Validated:: by frequency
MAF:: -=0.00007/2 (TOMMO)
HGVS:: NC_000009.12:g.113376513_113376514del, NC_000009.11:g.116138793_116138794del, NM_031219.4:c.-1237_-1236del

Select item 14914380762.

rs1491438076 [Homo sapiens]

Variant type:: INS
Alleles:: ->CTTTT,CTTTTT [Show Flanks]
Chromosome:: 9:113376513 (GRCh38)
9:116138794 (GRCh37)
Canonical SPDI:: NC_000009.12:113376513::CTTTT,NC_000009.12:113376513::CTTTTT
Gene:: HDHD3 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CTTTTT=0.008413/37 (ALFA)
CTTTTT=0.001915/208 (GnomAD)
CTTTTT=0.008382/37 (Estonian)
CTTTTT=0.010886/167 (TOMMO)
CTTTTT=0.048312/83 (Korea1K)
HGVS:: NC_000009.12:g.113376513_113376514insCTTTT, NC_000009.12:g.113376513_113376514insCTTTTT, NC_000009.11:g.116138793_116138794insCTTTT, NC_000009.11:g.116138793_116138794insCTTTTT, NM_031219.4:c.-1237_-1236insAAAAG, NM_031219.4:c.-1237_-1236insAAAAAG

Select item 14910586543.

rs1491058654 has merged into rs113816111 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT,TTTTT,TTTTTTTTTTT [Show Flanks]
Chromosome:: 9:113377632 (GRCh38)
9:116139912 (GRCh37)
Canonical SPDI:: NC_000009.12:113377620:TTTTTTTTTTTTT:TTTTTTTTTTT,NC_000009.12:113377620:TTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000009.12:113377620:TTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000009.12:113377620:TTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000009.12:113377620:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000009.12:113377620:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT
Gene:: HDHD3 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000009.12:g.113377632_113377633del, NC_000009.12:g.113377633del, NC_000009.12:g.113377633dup, NC_000009.12:g.113377632_113377633dup, NC_000009.12:g.113377631_113377633dup, NC_000009.12:g.113377625_113377633dup, NC_000009.11:g.116139912_116139913del, NC_000009.11:g.116139913del, NC_000009.11:g.116139913dup, NC_000009.11:g.116139912_116139913dup, NC_000009.11:g.116139911_116139913dup, NC_000009.11:g.116139905_116139913dup

Select item 14894832644.

rs1489483264 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 9:113374216 (GRCh38)
9:116136496 (GRCh37)
Canonical SPDI:: NC_000009.12:113374215:G:A,NC_000009.12:113374215:G:C
Gene:: HDHD3 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.113374216G>A, NC_000009.12:g.113374216G>C, NC_000009.11:g.116136496G>A, NC_000009.11:g.116136496G>C, NM_031219.4:c.139C>T, NM_031219.4:c.139C>G, NM_031219.3:c.139C>T, NM_031219.3:c.139C>G, NM_031219.2:c.139C>T, NM_031219.2:c.139C>G, NM_001304509.2:c.139C>T, NM_001304509.2:c.139C>G, NM_001304509.1:c.139C>T, NM_001304509.1:c.139C>G, NM_001304510.2:c.139C>T, NM_001304510.2:c.139C>G, NM_001304510.1:c.139C>T, NM_001304510.1:c.139C>G, NM_001304511.2:c.139C>T, NM_001304511.2:c.139C>G, NM_001304511.1:c.139C>T, NM_001304511.1:c.139C>G, NM_001371923.1:c.139C>T, NM_001371923.1:c.139C>G, NP_112496.1:p.Gln47Ter, NP_112496.1:p.Gln47Glu, NP_001291438.1:p.Gln47Ter, NP_001291438.1:p.Gln47Glu, NP_001291439.1:p.Gln47Ter, NP_001291439.1:p.Gln47Glu, NP_001291440.1:p.Gln47Ter, NP_001291440.1:p.Gln47Glu, NP_001358852.1:p.Gln47Ter, NP_001358852.1:p.Gln47Glu

Select item 14894147535.

rs1489414753 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 9:113374859 (GRCh38)
9:116137139 (GRCh37)
Canonical SPDI:: NC_000009.12:113374858:A:T
Gene:: HDHD3 (Varview)
Functional Consequence:: 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_000009.12:g.113374859A>T, NC_000009.11:g.116137139A>T

Select item 14890759016.

rs1489075901 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:113376544 (GRCh38)
9:116138824 (GRCh37)
Canonical SPDI:: NC_000009.12:113376543:C:T
Gene:: HDHD3 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.113376544C>T, NC_000009.11:g.116138824C>T, NM_031219.4:c.-1267G>A

Select item 14887251177.

rs1488725117 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 9:113378341 (GRCh38)
9:116140621 (GRCh37)
Canonical SPDI:: NC_000009.12:113378340:C:G,NC_000009.12:113378340:C:T
Gene:: HDHD3 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.113378341C>G, NC_000009.12:g.113378341C>T, NC_000009.11:g.116140621C>G, NC_000009.11:g.116140621C>T

Select item 14874811088.

rs1487481108 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 9:113376383 (GRCh38)
9:116138663 (GRCh37)
Canonical SPDI:: NC_000009.12:113376382:A:C,NC_000009.12:113376382:A:G
Gene:: HDHD3 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
C=0.02205/58 (KOREAN)
HGVS:: NC_000009.12:g.113376383A>C, NC_000009.12:g.113376383A>G, NC_000009.11:g.116138663A>C, NC_000009.11:g.116138663A>G, NM_031219.4:c.-1106T>G, NM_031219.4:c.-1106T>C

Select item 14872419449.

rs1487241944 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTTT>- [Show Flanks]
Chromosome:: 9:113376354 (GRCh38)
9:116138634 (GRCh37)
Canonical SPDI:: NC_000009.12:113376350:TTTCTTT:TTT
Gene:: HDHD3 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: TTT=0./0 (ALFA)
-=0.00002/2 (GnomAD)
HGVS:: NC_000009.12:g.113376354_113376357del, NC_000009.11:g.116138634_116138637del, NM_031219.4:c.-1077_-1074del

Select item 148649603710.

rs1486496037 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 9:113376610 (GRCh38)
9:116138890 (GRCh37)
Canonical SPDI:: NC_000009.12:113376609:C:A,NC_000009.12:113376609:C:T
Gene:: HDHD3 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,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_000009.12:g.113376610C>A, NC_000009.12:g.113376610C>T, NC_000009.11:g.116138890C>A, NC_000009.11:g.116138890C>T

Select item 148567518111.

rs1485675181 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:113375132 (GRCh38)
9:116137412 (GRCh37)
Canonical SPDI:: NC_000009.12:113375131:C:T
Gene:: HDHD3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: T=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.113375132C>T, NC_000009.11:g.116137412C>T

Select item 148566872812.

rs1485668728 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 9:113377963 (GRCh38)
9:116140243 (GRCh37)
Canonical SPDI:: NC_000009.12:113377962:A:C,NC_000009.12:113377962:A:G
Gene:: HDHD3 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
C=0.008219/24 (KOREAN)
HGVS:: NC_000009.12:g.113377963A>C, NC_000009.12:g.113377963A>G, NC_000009.11:g.116140243A>C, NC_000009.11:g.116140243A>G

Select item 148563253013.

rs1485632530 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:113377581 (GRCh38)
9:116139861 (GRCh37)
Canonical SPDI:: NC_000009.12:113377580:G:A
Gene:: HDHD3 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000015/4 (TOPMED)
A=0.000071/1 (TOMMO)
HGVS:: NC_000009.12:g.113377581G>A, NC_000009.11:g.116139861G>A

Select item 148516391314.

rs1485163913 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,G [Show Flanks]
Chromosome:: 9:113377633 (GRCh38)
9:116139913 (GRCh37)
Canonical SPDI:: NC_000009.12:113377632:T:A,NC_000009.12:113377632:T:G
Gene:: HDHD3 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
G=0.012329/36 (KOREAN)
HGVS:: NC_000009.12:g.113377633T>A, NC_000009.12:g.113377633T>G, NC_000009.11:g.116139913T>A, NC_000009.11:g.116139913T>G

Select item 148504283315.

rs1485042833 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:113375829 (GRCh38)
9:116138109 (GRCh37)
Canonical SPDI:: NC_000009.12:113375828:G:A
Gene:: HDHD3 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000035/1 (TOMMO)
HGVS:: NC_000009.12:g.113375829G>A, NC_000009.11:g.116138109G>A, NM_031219.4:c.-552C>T, NM_031219.3:c.-552C>T, NM_031219.2:c.-552C>T

Select item 148491098216.

rs1484910982 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:113374761 (GRCh38)
9:116137041 (GRCh37)
Canonical SPDI:: NC_000009.12:113374760:C:T
Gene:: HDHD3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000009.12:g.113374761C>T, NC_000009.11:g.116137041C>T

Select item 148418105417.

rs1484181054 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:113374362 (GRCh38)
9:116136642 (GRCh37)
Canonical SPDI:: NC_000009.12:113374361:G:A
Gene:: HDHD3 (Varview)
Functional Consequence:: 5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000035/1 (TOMMO)
HGVS:: NC_000009.12:g.113374362G>A, NC_000009.11:g.116136642G>A, NM_031219.4:c.-8C>T, NM_031219.3:c.-8C>T, NM_031219.2:c.-8C>T, NM_001304509.2:c.-8C>T, NM_001304509.1:c.-8C>T, NM_001304510.2:c.-8C>T, NM_001304510.1:c.-8C>T, NM_001304511.2:c.-8C>T, NM_001304511.1:c.-8C>T, NM_001371923.1:c.-8C>T

Select item 148409959018.

rs1484099590 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:113378439 (GRCh38)
9:116140719 (GRCh37)
Canonical SPDI:: NC_000009.12:113378438:A:G
Gene:: HDHD3 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_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_000009.12:g.113378439A>G, NC_000009.11:g.116140719A>G

Select item 148371844919.

rs1483718449 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:113376493 (GRCh38)
9:116138773 (GRCh37)
Canonical SPDI:: NC_000009.12:113376492:G:A
Gene:: HDHD3 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00152/23 (ALFA)
A=0.00722/111 (TOMMO)
A=0.02635/45 (Korea1K)
HGVS:: NC_000009.12:g.113376493G>A, NC_000009.11:g.116138773G>A, NM_031219.4:c.-1216C>T

Select item 148370971520.

rs1483709715 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 9:113378548 (GRCh38)
9:116140828 (GRCh37)
Canonical SPDI:: NC_000009.12:113378547:CC:C
Gene:: HDHD3 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: CC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.113378549del, NC_000009.11:g.116140829del

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