SNP Links for Gene (Select 401494) - SNP

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Select item 14914030271.

rs1491403027 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ACC,GCC [Show Flanks]
Chromosome:: 9:21010457 (GRCh38)
9:21010457 (GRCh37)
Canonical SPDI:: NC_000009.12:21010457:CC:CCACC,NC_000009.12:21010457:CC:CCGCC
Gene:: HACD4 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: CCGCC=0./0 (ALFA)
HGVS:: NC_000009.12:g.21010459_21010460insACC, NC_000009.12:g.21010459_21010460insGCC, NC_000009.11:g.21010458_21010459insACC, NC_000009.11:g.21010458_21010459insGCC

Select item 14913210942.

rs1491321094 has merged into rs397709627 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTT>-,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT [Show Flanks]
Chromosome:: 9:21023585 (GRCh38)
9:21023584 (GRCh37)
Canonical SPDI:: NC_000009.12:21023574:TTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000009.12:21023574:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000009.12:21023574:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000009.12:21023574:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000009.12:21023574:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000009.12:21023574:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000009.12:21023574:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000009.12:21023574:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000009.12:21023574:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:21023574:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT
Gene:: HACD4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTT=0./0 (ALFA)
-=0.000026/7 (TOPMED)
-=0.45/18 (GENOME_DK)
HGVS:: NC_000009.12:g.21023585_21023592del, NC_000009.12:g.21023589_21023592del, NC_000009.12:g.21023590_21023592del, NC_000009.12:g.21023591_21023592del, NC_000009.12:g.21023592del, NC_000009.12:g.21023592dup, NC_000009.12:g.21023591_21023592dup, NC_000009.12:g.21023590_21023592dup, NC_000009.12:g.21023589_21023592dup, NC_000009.12:g.21023588_21023592dup, NC_000009.11:g.21023584_21023591del, NC_000009.11:g.21023588_21023591del, NC_000009.11:g.21023589_21023591del, NC_000009.11:g.21023590_21023591del, NC_000009.11:g.21023591del, NC_000009.11:g.21023591dup, NC_000009.11:g.21023590_21023591dup, NC_000009.11:g.21023589_21023591dup, NC_000009.11:g.21023588_21023591dup, NC_000009.11:g.21023587_21023591dup

Select item 14911306173.

rs1491130617 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 9:21010469 (GRCh38)
9:21010469 (GRCh37)
Canonical SPDI:: NC_000009.12:21010469::A
Gene:: HACD4 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000009.12:g.21010469_21010470insA, NC_000009.11:g.21010468_21010469insA

Select item 14910884574.

rs1491088457 has merged into rs57245979 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAA>-,AA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 9:21030278 (GRCh38)
9:21030277 (GRCh37)
Canonical SPDI:: NC_000009.12:21030269:AAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000009.12:21030269:AAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000009.12:21030269:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000009.12:21030269:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000009.12:21030269:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000009.12:21030269:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000009.12:21030269:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000009.12:21030269:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000009.12:21030269:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000009.12:21030269:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000009.12:21030269:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:21030269:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:21030269:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:21030269:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: HACD4 (Varview), LOC105375989 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAA=0./0 (ALFA)
-=0.393/1968 (1000Genomes)
HGVS:: NC_000009.12:g.21030278_21030287del, NC_000009.12:g.21030280_21030287del, NC_000009.12:g.21030283_21030287del, NC_000009.12:g.21030284_21030287del, NC_000009.12:g.21030285_21030287del, NC_000009.12:g.21030286_21030287del, NC_000009.12:g.21030287del, NC_000009.12:g.21030287dup, NC_000009.12:g.21030286_21030287dup, NC_000009.12:g.21030285_21030287dup, NC_000009.12:g.21030284_21030287dup, NC_000009.12:g.21030283_21030287dup, NC_000009.12:g.21030282_21030287dup, NC_000009.12:g.21030281_21030287dup, NC_000009.11:g.21030277_21030286del, NC_000009.11:g.21030279_21030286del, NC_000009.11:g.21030282_21030286del, NC_000009.11:g.21030283_21030286del, NC_000009.11:g.21030284_21030286del, NC_000009.11:g.21030285_21030286del, NC_000009.11:g.21030286del, NC_000009.11:g.21030286dup, NC_000009.11:g.21030285_21030286dup, NC_000009.11:g.21030284_21030286dup, NC_000009.11:g.21030283_21030286dup, NC_000009.11:g.21030282_21030286dup, NC_000009.11:g.21030281_21030286dup, NC_000009.11:g.21030280_21030286dup

Select item 14909863645.

rs1490986364 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 9:21031303 (GRCh38)
9:21031302 (GRCh37)
Canonical SPDI:: NC_000009.12:21031302:G:T
Gene:: HACD4 (Varview), LOC105375989 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
T=0.003275/6 (Korea1K)
HGVS:: NC_000009.12:g.21031303G>T, NC_000009.11:g.21031302G>T

Select item 14909232286.

rs1490923228 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 9:21018867 (GRCh38)
9:21018866 (GRCh37)
Canonical SPDI:: NC_000009.12:21018866:T:G
Gene:: HACD4 (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_000009.12:g.21018867T>G, NC_000009.11:g.21018866T>G

Select item 14908968487.

rs1490896848 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 9:21017750 (GRCh38)
9:21017749 (GRCh37)
Canonical SPDI:: NC_000009.12:21017749:A:C
Gene:: HACD4 (Varview)
Functional Consequence:: intron_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_000009.12:g.21017750A>C, NC_000009.11:g.21017749A>C

Select item 14908755688.

rs1490875568 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 9:21018988 (GRCh38)
9:21018987 (GRCh37)
Canonical SPDI:: NC_000009.12:21018987:A:C
Gene:: HACD4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000019/5 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000009.12:g.21018988A>C, NC_000009.11:g.21018987A>C

Select item 14907015809.

rs1490701580 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:21023993 (GRCh38)
9:21023992 (GRCh37)
Canonical SPDI:: NC_000009.12:21023992:G:A
Gene:: HACD4 (Varview)
Functional Consequence:: intron_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_000009.12:g.21023993G>A, NC_000009.11:g.21023992G>A

Select item 149068592610.

rs1490685926 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:21025041 (GRCh38)
9:21025040 (GRCh37)
Canonical SPDI:: NC_000009.12:21025040:A:G
Gene:: HACD4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000021/3 (GnomAD)
G=0.000342/1 (KOREAN)
HGVS:: NC_000009.12:g.21025041A>G, NC_000009.11:g.21025040A>G

Select item 149057312911.

rs1490573129 has merged into rs941936443 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAA>-,AAAA,AAAAAA [Show Flanks]
Chromosome:: 9:21026545 (GRCh38)
9:21026544 (GRCh37)
Canonical SPDI:: NC_000009.12:21026543:AAAAAA:A,NC_000009.12:21026543:AAAAAA:AAAAA,NC_000009.12:21026543:AAAAAA:AAAAAAA
Gene:: HACD4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
-=0.00031/2 (1000Genomes)
HGVS:: NC_000009.12:g.21026545_21026549del, NC_000009.12:g.21026549del, NC_000009.12:g.21026549dup, NC_000009.11:g.21026544_21026548del, NC_000009.11:g.21026548del, NC_000009.11:g.21026548dup

Select item 149052436112.

rs1490524361 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:21012269 (GRCh38)
9:21012268 (GRCh37)
Canonical SPDI:: NC_000009.12:21012268:T:C
Gene:: HACD4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000015/4 (TOPMED)
HGVS:: NC_000009.12:g.21012269T>C, NC_000009.11:g.21012268T>C

Select item 149052264413.

rs1490522644 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:21025540 (GRCh38)
9:21025539 (GRCh37)
Canonical SPDI:: NC_000009.12:21025539:G:A
Gene:: HACD4 (Varview)
Functional Consequence:: intron_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_000009.12:g.21025540G>A, NC_000009.11:g.21025539G>A

Select item 149030667614.

rs1490306676 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:21021319 (GRCh38)
9:21021318 (GRCh37)
Canonical SPDI:: NC_000009.12:21021318:A:G
Gene:: HACD4 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000009.12:g.21021319A>G, NC_000009.11:g.21021318A>G

Select item 148977751715.

rs1489777517 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 9:21020749 (GRCh38)
9:21020748 (GRCh37)
Canonical SPDI:: NC_000009.12:21020748:T:A,NC_000009.12:21020748:T:C
Gene:: HACD4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000009.12:g.21020749T>A, NC_000009.12:g.21020749T>C, NC_000009.11:g.21020748T>A, NC_000009.11:g.21020748T>C

Select item 148976689016.

rs1489766890 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:21013954 (GRCh38)
9:21013953 (GRCh37)
Canonical SPDI:: NC_000009.12:21013953:T:C
Gene:: HACD4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000009.12:g.21013954T>C, NC_000009.11:g.21013953T>C

Select item 148972089017.

rs1489720890 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 9:21020195 (GRCh38)
9:21020194 (GRCh37)
Canonical SPDI:: NC_000009.12:21020194:A:C
Gene:: HACD4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000034/9 (TOPMED)
C=0.000043/6 (GnomAD)
HGVS:: NC_000009.12:g.21020195A>C, NC_000009.11:g.21020194A>C

Select item 148961129218.

rs1489611292 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:21026055 (GRCh38)
9:21026054 (GRCh37)
Canonical SPDI:: NC_000009.12:21026054:T:C
Gene:: HACD4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000021/3 (GnomAD)
C=0.000023/6 (TOPMED)
HGVS:: NC_000009.12:g.21026055T>C, NC_000009.11:g.21026054T>C

Select item 148946058919.

rs1489460589 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:21005230 (GRCh38)
9:21005229 (GRCh37)
Canonical SPDI:: NC_000009.12:21005229:G:A
Gene:: HACD4 (Varview)
Functional Consequence:: genic_downstream_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_000009.12:g.21005230G>A, NC_000009.11:g.21005229G>A, NM_001010915.5:c.*1807C>T, NM_001010915.4:c.*1807C>T, XM_017014713.2:c.*1807C>T, XM_017014713.1:c.*1807C>T, NM_001321903.2:c.*1807C>T, NM_001321903.1:c.*1807C>T, NM_001321883.2:c.*1807C>T, NM_001321883.1:c.*1807C>T

Select item 148925571920.

rs1489255719 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 9:21026060 (GRCh38)
9:21026060 (GRCh37)
Canonical SPDI:: NC_000009.12:21026060:TTT:TTTT
Gene:: HACD4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TTTT=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000009.12:g.21026063dup, NC_000009.11:g.21026062dup

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