SNP Links for Gene (Select 6478) - SNP

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Select item 14914692671.

rs1491469267 has merged into rs5853495 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACACACACACACACACACACACACACAC>-,ACACAC,ACACACAC,ACACACACAC,ACACACACACAC,ACACACACACACAC,ACACACACACACACAC,ACACACACACACACACAC,ACACACACACACACACACAC,ACACACACACACACACACACAC,ACACACACACACACACACACACAC,ACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACACACACACACACAC [Show Flanks]
Chromosome:: 3:150745251 (GRCh38)
3:150463038 (GRCh37)
Canonical SPDI:: NC_000003.12:150745240:ACACACACACACACACACACACACACACACACACACAC:ACACACACAC,NC_000003.12:150745240:ACACACACACACACACACACACACACACACACACACAC:ACACACACACACACAC,NC_000003.12:150745240:ACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACAC,NC_000003.12:150745240:ACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACAC,NC_000003.12:150745240:ACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACAC,NC_000003.12:150745240:ACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACAC,NC_000003.12:150745240:ACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACAC,NC_000003.12:150745240:ACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACAC,NC_000003.12:150745240:ACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACAC,NC_000003.12:150745240:ACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACAC,NC_000003.12:150745240:ACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACAC,NC_000003.12:150745240:ACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACAC,NC_000003.12:150745240:ACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACAC,NC_000003.12:150745240:ACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACAC,NC_000003.12:150745240:ACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACAC,NC_000003.12:150745240:ACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACAC,NC_000003.12:150745240:ACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000003.12:150745240:ACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000003.12:150745240:ACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000003.12:150745240:ACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000003.12:150745240:ACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000003.12:150745240:ACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000003.12:150745240:ACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000003.12:150745240:ACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000003.12:150745240:ACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC
Gene:: SIAH2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACACAC=0./0 (ALFA)
-=0.0937/361 (ALSPAC)
HGVS:: NC_000003.12:g.150745241AC[5], NC_000003.12:g.150745241AC[8], NC_000003.12:g.150745241AC[9], NC_000003.12:g.150745241AC[10], NC_000003.12:g.150745241AC[11], NC_000003.12:g.150745241AC[12], NC_000003.12:g.150745241AC[13], NC_000003.12:g.150745241AC[14], NC_000003.12:g.150745241AC[15], NC_000003.12:g.150745241AC[16], NC_000003.12:g.150745241AC[17], NC_000003.12:g.150745241AC[18], NC_000003.12:g.150745241AC[20], NC_000003.12:g.150745241AC[21], NC_000003.12:g.150745241AC[22], NC_000003.12:g.150745241AC[23], NC_000003.12:g.150745241AC[24], NC_000003.12:g.150745241AC[25], NC_000003.12:g.150745241AC[26], NC_000003.12:g.150745241AC[27], NC_000003.12:g.150745241AC[28], NC_000003.12:g.150745241AC[29], NC_000003.12:g.150745241AC[30], NC_000003.12:g.150745241AC[31], NC_000003.12:g.150745241AC[32], NC_000003.11:g.150463028AC[5], NC_000003.11:g.150463028AC[8], NC_000003.11:g.150463028AC[9], NC_000003.11:g.150463028AC[10], NC_000003.11:g.150463028AC[11], NC_000003.11:g.150463028AC[12], NC_000003.11:g.150463028AC[13], NC_000003.11:g.150463028AC[14], NC_000003.11:g.150463028AC[15], NC_000003.11:g.150463028AC[16], NC_000003.11:g.150463028AC[17], NC_000003.11:g.150463028AC[18], NC_000003.11:g.150463028AC[20], NC_000003.11:g.150463028AC[21], NC_000003.11:g.150463028AC[22], NC_000003.11:g.150463028AC[23], NC_000003.11:g.150463028AC[24], NC_000003.11:g.150463028AC[25], NC_000003.11:g.150463028AC[26], NC_000003.11:g.150463028AC[27], NC_000003.11:g.150463028AC[28], NC_000003.11:g.150463028AC[29], NC_000003.11:g.150463028AC[30], NC_000003.11:g.150463028AC[31], NC_000003.11:g.150463028AC[32]

Select item 14913971662.

rs1491397166 has merged into rs1553759391 [Homo sapiens]

Variant type:: DELINS
Alleles:: CC>-,CCCC [Show Flanks]
Chromosome:: 3:150745280 (GRCh38)
3:150463067 (GRCh37)
Canonical SPDI:: NC_000003.12:150745277:CCCC:CC,NC_000003.12:150745277:CCCC:CCCCCC
Gene:: SIAH2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCC=0./0 (ALFA)
HGVS:: NC_000003.12:g.150745280_150745281del, NC_000003.12:g.150745280_150745281dup, NC_000003.11:g.150463067_150463068del, NC_000003.11:g.150463067_150463068dup

Select item 14912093243.

rs1491209324 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ACACACACACACACACACCC,ACACACACACACCC,ACACACACACCC,ACACACACCC,ACACACCC,ACACCC,ACCC [Show Flanks]
Chromosome:: 3:150745277 (GRCh38)
3:150463065 (GRCh37)
Canonical SPDI:: NC_000003.12:150745277:C:CACACACACACACACACACCC,NC_000003.12:150745277:C:CACACACACACACCC,NC_000003.12:150745277:C:CACACACACACCC,NC_000003.12:150745277:C:CACACACACCC,NC_000003.12:150745277:C:CACACACCC,NC_000003.12:150745277:C:CACACCC,NC_000003.12:150745277:C:CACCC
Gene:: SIAH2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CACACACACCC=0./0 (ALFA)
CACACACACACC=0.000004/1 (TOPMED)
CACC=0.018692/4 (Vietnamese)
HGVS:: NC_000003.12:g.150745278CA[9]CCC[1], NC_000003.12:g.150745278CA[6]CCC[1], NC_000003.12:g.150745278CA[5]CCC[1], NC_000003.12:g.150745278CA[4]CCC[1], NC_000003.12:g.150745278CA[3]CCC[1], NC_000003.12:g.150745278CA[2]CCC[1], NC_000003.12:g.150745278_150745279insACCC, NC_000003.11:g.150463065CA[9]CCC[1], NC_000003.11:g.150463065CA[6]CCC[1], NC_000003.11:g.150463065CA[5]CCC[1], NC_000003.11:g.150463065CA[4]CCC[1], NC_000003.11:g.150463065CA[3]CCC[1], NC_000003.11:g.150463065CA[2]CCC[1], NC_000003.11:g.150463065_150463066insACCC

Select item 14909637004.

rs1490963700 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 3:150742095 (GRCh38)
3:150459882 (GRCh37)
Canonical SPDI:: NC_000003.12:150742094:A:C
Gene:: SIAH2 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency
MAF:: C=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.150742095A>C, NC_000003.11:g.150459882A>C, NM_005067.7:c.*46T>G, NM_005067.6:c.*46T>G, NM_005067.5:c.*46T>G

Select item 14908732785.

rs1490873278 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:150752115 (GRCh38)
3:150469902 (GRCh37)
Canonical SPDI:: NC_000003.12:150752114:T:C
Gene:: SIAH2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.150752115T>C, NC_000003.11:g.150469902T>C

Select item 14908375706.

rs1490837570 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 3:150744013 (GRCh38)
3:150461800 (GRCh37)
Canonical SPDI:: NC_000003.12:150744012:T:A,NC_000003.12:150744012:T:C
Gene:: SIAH2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.00055/9 (ALFA)
HGVS:: NC_000003.12:g.150744013T>A, NC_000003.12:g.150744013T>C, NC_000003.11:g.150461800T>A, NC_000003.11:g.150461800T>C

Select item 14906012977.

rs1490601297 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:150758141 (GRCh38)
3:150475928 (GRCh37)
Canonical SPDI:: NC_000003.12:150758140:T:C
Gene:: SIAH2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.150758141T>C, NC_000003.11:g.150475928T>C

Select item 14904512168.

rs1490451216 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:150755645 (GRCh38)
3:150473432 (GRCh37)
Canonical SPDI:: NC_000003.12:150755644:G:A
Gene:: SIAH2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000029/4 (GnomAD)
HGVS:: NC_000003.12:g.150755645G>A, NC_000003.11:g.150473432G>A

Select item 14904302989.

rs1490430298 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:150759782 (GRCh38)
3:150477569 (GRCh37)
Canonical SPDI:: NC_000003.12:150759781:C:T
Gene:: SIAH2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000021/3 (GnomAD)
T=0.000023/6 (TOPMED)
HGVS:: NC_000003.12:g.150759782C>T, NC_000003.11:g.150477569C>T

Select item 149027647010.

rs1490276470 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:150755830 (GRCh38)
3:150473617 (GRCh37)
Canonical SPDI:: NC_000003.12:150755829:T:C
Gene:: SIAH2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.150755830T>C, NC_000003.11:g.150473617T>C

Select item 149012209311.

rs1490122093 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 3:150753597 (GRCh38)
3:150471384 (GRCh37)
Canonical SPDI:: NC_000003.12:150753596:C:A
Gene:: SIAH2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.150753597C>A, NC_000003.11:g.150471384C>A

Select item 149008461512.

rs1490084615 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 3:150750610 (GRCh38)
3:150468397 (GRCh37)
Canonical SPDI:: NC_000003.12:150750609:G:A,NC_000003.12:150750609:G:T
Gene:: SIAH2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.150750610G>A, NC_000003.12:g.150750610G>T, NC_000003.11:g.150468397G>A, NC_000003.11:g.150468397G>T

Select item 149005627113.

rs1490056271 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:150751581 (GRCh38)
3:150469368 (GRCh37)
Canonical SPDI:: NC_000003.12:150751580:T:C
Gene:: SIAH2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000003.12:g.150751581T>C, NC_000003.11:g.150469368T>C

Select item 148982296914.

rs1489822969 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 3:150742960 (GRCh38)
3:150460747 (GRCh37)
Canonical SPDI:: NC_000003.12:150742959:G:C
Gene:: SIAH2 (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_000003.12:g.150742960G>C, NC_000003.11:g.150460747G>C

Select item 148976274015.

rs1489762740 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 3:150759472 (GRCh38)
3:150477259 (GRCh37)
Canonical SPDI:: NC_000003.12:150759471:T:G
Gene:: SIAH2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000023/6 (TOPMED)
G=0.000036/5 (GnomAD)
HGVS:: NC_000003.12:g.150759472T>G, NC_000003.11:g.150477259T>G

Select item 148969920716.

rs1489699207 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:150743083 (GRCh38)
3:150460870 (GRCh37)
Canonical SPDI:: NC_000003.12:150743082:G:A
Gene:: SIAH2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000003.12:g.150743083G>A, NC_000003.11:g.150460870G>A

Select item 148961410417.

rs1489614104 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:150762665 (GRCh38)
3:150480452 (GRCh37)
Canonical SPDI:: NC_000003.12:150762664:C:T
Gene:: SIAH2 (Varview), SIAH2-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
HGVS:: NC_000003.12:g.150762665C>T, NC_000003.11:g.150480452C>T, NM_005067.7:c.185G>A, NM_005067.6:c.185G>A, NM_005067.5:c.185G>A, NP_005058.3:p.Gly62Asp

Select item 148957821918.

rs1489578219 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:150762745 (GRCh38)
3:150480532 (GRCh37)
Canonical SPDI:: NC_000003.12:150762744:G:A
Gene:: SIAH2 (Varview), SIAH2-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000015/2 (GnomAD)
HGVS:: NC_000003.12:g.150762745G>A, NC_000003.11:g.150480532G>A, NM_005067.7:c.105C>T, NM_005067.6:c.105C>T, NM_005067.5:c.105C>T

Select item 148949382419.

rs1489493824 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:150751048 (GRCh38)
3:150468835 (GRCh37)
Canonical SPDI:: NC_000003.12:150751047:C:T
Gene:: SIAH2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
HGVS:: NC_000003.12:g.150751048C>T, NC_000003.11:g.150468835C>T

Select item 148946843220.

rs1489468432 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:150761972 (GRCh38)
3:150479759 (GRCh37)
Canonical SPDI:: NC_000003.12:150761971:G:A
Gene:: SIAH2 (Varview), SIAH2-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.150761972G>A, NC_000003.11:g.150479759G>A, XR_007096130.1:n.36G>A, XR_007096129.1:n.36G>A

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