SNP Links for Gene (Select 100130717) - SNP

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Items: 1 to 20 of 2154

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Select item 14914886751.

rs1491488675 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,G,T [Show Flanks]
Chromosome:: 22:17159287 (GRCh38)
22:17640178 (GRCh37)
Canonical SPDI:: NC_000022.11:17159287::A,NC_000022.11:17159287::G,NC_000022.11:17159287::T
Gene:: HDHD5 (Varview), HDHD5-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
A=0.00009/3 (GnomAD)
HGVS:: NC_000022.11:g.17159287_17159288insA, NC_000022.11:g.17159287_17159288insG, NC_000022.11:g.17159287_17159288insT, NC_000022.10:g.17640177_17640178insA, NC_000022.10:g.17640177_17640178insG, NC_000022.10:g.17640177_17640178insT

Select item 14912032622.

rs1491203262 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 22:17160650 (GRCh38)
22:17641541 (GRCh37)
Canonical SPDI:: NC_000022.11:17160650::G
Gene:: HDHD5 (Varview), HDHD5-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000142/2 (ALFA)
G=0.000034/9 (TOPMED)
G=0.000116/6 (GnomAD)
HGVS:: NC_000022.11:g.17160650_17160651insG, NC_000022.10:g.17641540_17641541insG

Select item 14908917663.

rs1490891766 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 22:17162253 (GRCh38)
22:17643143 (GRCh37)
Canonical SPDI:: NC_000022.11:17162252:A:G
Gene:: HDHD5 (Varview), HDHD5-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_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_000022.11:g.17162253A>G, NC_000022.10:g.17643143A>G

Select item 14907268544.

rs1490726854 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,G [Show Flanks]
Chromosome:: 22:17161189 (GRCh38)
22:17642079 (GRCh37)
Canonical SPDI:: NC_000022.11:17161188:T:A,NC_000022.11:17161188:T:G
Gene:: HDHD5 (Varview), HDHD5-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000022.11:g.17161189T>A, NC_000022.11:g.17161189T>G, NC_000022.10:g.17642079T>A, NC_000022.10:g.17642079T>G

Select item 14906548465.

rs1490654846 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:17157483 (GRCh38)
22:17638373 (GRCh37)
Canonical SPDI:: NC_000022.11:17157482:C:T
Gene:: HDHD5 (Varview), HDHD5-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,genic_upstream_transcript_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_000022.11:g.17157483C>T, NC_000022.10:g.17638373C>T

Select item 14905606656.

rs1490560665 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 22:17160250 (GRCh38)
22:17641140 (GRCh37)
Canonical SPDI:: NC_000022.11:17160249:CCCC:CCC
Gene:: HDHD5 (Varview), HDHD5-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCC=0.000432/8 (ALFA)
-=0.000042/11 (TOPMED)
-=0.000064/9 (GnomAD)
-=0.001563/7 (Estonian)
HGVS:: NC_000022.11:g.17160253del, NC_000022.10:g.17641143del

Select item 14905036287.

rs1490503628 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:17165278 (GRCh38)
22:17646168 (GRCh37)
Canonical SPDI:: NC_000022.11:17165277:G:A
Gene:: HDHD5 (Varview), HDHD5-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_upstream_transcript_variant,5_prime_UTR_variant
HGVS:: NC_000022.11:g.17165278G>A, NC_000022.10:g.17646168G>A, NM_017829.6:c.-34C>T, NM_017829.5:c.-34C>T, NR_024483.1:n.459G>A, NR_024482.1:n.173G>A

Select item 14900123868.

rs1490012386 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 22:17159410 (GRCh38)
22:17640300 (GRCh37)
Canonical SPDI:: NC_000022.11:17159409:G:A,NC_000022.11:17159409:G:C
Gene:: HDHD5 (Varview), HDHD5-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
A=0.000009/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.17159410G>A, NC_000022.11:g.17159410G>C, NC_000022.10:g.17640300G>A, NC_000022.10:g.17640300G>C, NR_024483.1:n.22G>A, NR_024483.1:n.22G>C, NR_024482.1:n.22G>A, NR_024482.1:n.22G>C

Select item 14899661409.

rs1489966140 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:17163486 (GRCh38)
22:17644376 (GRCh37)
Canonical SPDI:: NC_000022.11:17163485:C:T
Gene:: HDHD5 (Varview), HDHD5-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000216/4 (ALFA)
T=0.000023/6 (TOPMED)
T=0.000035/1 (TOMMO)
T=0.00005/7 (GnomAD)
T=0.000893/4 (Estonian)
C=0.5/1 (SGDP_PRJ)
HGVS:: NC_000022.11:g.17163486C>T, NC_000022.10:g.17644376C>T

Select item 148970422310.

rs1489704223 [Homo sapiens]

Variant type:: DEL
Alleles:: A>- [Show Flanks]
Chromosome:: 22:17159359 (GRCh38)
22:17640249 (GRCh37)
Canonical SPDI:: NC_000022.11:17159358:A:
Gene:: HDHD5 (Varview), HDHD5-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: -=0.00001/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.17159359del, NC_000022.10:g.17640249del

Select item 148958671911.

rs1489586719 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 22:17159087 (GRCh38)
22:17639977 (GRCh37)
Canonical SPDI:: NC_000022.11:17159086:G:C
Gene:: HDHD5 (Varview), HDHD5-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,genic_upstream_transcript_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_000022.11:g.17159087G>C, NC_000022.10:g.17639977G>C

Select item 148955709312.

rs1489557093 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 22:17158357 (GRCh38)
22:17639247 (GRCh37)
Canonical SPDI:: NC_000022.11:17158356:A:G
Gene:: HDHD5 (Varview), HDHD5-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000022.11:g.17158357A>G, NC_000022.10:g.17639247A>G

Select item 148944895713.

rs1489448957 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:17158097 (GRCh38)
22:17638987 (GRCh37)
Canonical SPDI:: NC_000022.11:17158096:G:A
Gene:: HDHD5 (Varview), HDHD5-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000022.11:g.17158097G>A, NC_000022.10:g.17638987G>A

Select item 148939063014.

rs1489390630 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 22:17157742 (GRCh38)
22:17638633 (GRCh37)
Canonical SPDI:: NC_000022.11:17157742:C:CC
Gene:: HDHD5 (Varview), HDHD5-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: CC=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.17157743dup, NC_000022.10:g.17638633dup

Select item 148889181515.

rs1488891815 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 22:17159105 (GRCh38)
22:17639995 (GRCh37)
Canonical SPDI:: NC_000022.11:17159104:C:A,NC_000022.11:17159104:C:T
Gene:: HDHD5 (Varview), HDHD5-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000022.11:g.17159105C>A, NC_000022.11:g.17159105C>T, NC_000022.10:g.17639995C>A, NC_000022.10:g.17639995C>T

Select item 148833961316.

rs1488339613 has merged into rs1040834806 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>-,TT [Show Flanks]
Chromosome:: 22:17165650 (GRCh38)
22:17646540 (GRCh37)
Canonical SPDI:: NC_000022.11:17165649:TTTTTTTTTT:TTTTTTTTT,NC_000022.11:17165649:TTTTTTTTTT:TTTTTTTTTTT
Gene:: HDHD5 (Varview), HDHD5-AS1 (Varview)
Functional Consequence:: downstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0.00005/1 (ALFA)
-=0.00022/1 (Estonian)
-=0.00047/3 (1000Genomes)
HGVS:: NC_000022.11:g.17165659del, NC_000022.11:g.17165659dup, NC_000022.10:g.17646549del, NC_000022.10:g.17646549dup

Select item 148832840117.

rs1488328401 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 22:17164561 (GRCh38)
22:17645451 (GRCh37)
Canonical SPDI:: NC_000022.11:17164560:A:C,NC_000022.11:17164560:A:G
Gene:: HDHD5 (Varview), HDHD5-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000045/12 (TOPMED)
HGVS:: NC_000022.11:g.17164561A>C, NC_000022.11:g.17164561A>G, NC_000022.10:g.17645451A>C, NC_000022.10:g.17645451A>G

Select item 148788347918.

rs1487883479 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:17164683 (GRCh38)
22:17645573 (GRCh37)
Canonical SPDI:: NC_000022.11:17164682:C:T
Gene:: HDHD5 (Varview), HDHD5-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000038/10 (TOPMED)
T=0.000043/6 (GnomAD)
T=0.00463/1 (Vietnamese)
HGVS:: NC_000022.11:g.17164683C>T, NC_000022.10:g.17645573C>T

Select item 148752860519.

rs1487528605 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 22:17159331 (GRCh38)
22:17640221 (GRCh37)
Canonical SPDI:: NC_000022.11:17159330:T:C,NC_000022.11:17159330:T:G
Gene:: HDHD5 (Varview), HDHD5-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/1 (GnomAD)
G=0.032586/93 (KOREAN)
HGVS:: NC_000022.11:g.17159331T>C, NC_000022.11:g.17159331T>G, NC_000022.10:g.17640221T>C, NC_000022.10:g.17640221T>G

Select item 148609689620.

rs1486096896 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 22:17163774 (GRCh38)
22:17644664 (GRCh37)
Canonical SPDI:: NC_000022.11:17163773:C:A,NC_000022.11:17163773:C:T
Gene:: HDHD5 (Varview), HDHD5-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
HGVS:: NC_000022.11:g.17163774C>A, NC_000022.11:g.17163774C>T, NC_000022.10:g.17644664C>A, NC_000022.10:g.17644664C>T

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