SNP Links for Gene (Select 100288842) - SNP

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Select item 14915856871.

rs1491585687 has merged into rs10589412 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGTGTGTGTGTGTGTGTGTGTGTGTGT>-,GT,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT [Show Flanks]
Chromosome:: 9:120794520 (GRCh38)
9:123556798 (GRCh37)
Canonical SPDI:: NC_000009.12:120794506:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGT,NC_000009.12:120794506:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGT,NC_000009.12:120794506:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGT,NC_000009.12:120794506:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGT,NC_000009.12:120794506:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGT,NC_000009.12:120794506:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGT,NC_000009.12:120794506:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGT,NC_000009.12:120794506:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000009.12:120794506:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000009.12:120794506:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000009.12:120794506:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000009.12:120794506:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000009.12:120794506:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000009.12:120794506:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000009.12:120794506:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000009.12:120794506:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000009.12:120794506:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000009.12:120794506:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000009.12:120794506:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000009.12:120794506:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000009.12:120794506:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000009.12:120794506:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000009.12:120794506:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
Gene:: FBXW2 (Varview), B3GALT9 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGTGTGTGT=0./0 (ALFA)
HGVS:: NC_000009.12:g.120794508GT[6], NC_000009.12:g.120794508GT[7], NC_000009.12:g.120794508GT[8], NC_000009.12:g.120794508GT[9], NC_000009.12:g.120794508GT[10], NC_000009.12:g.120794508GT[11], NC_000009.12:g.120794508GT[12], NC_000009.12:g.120794508GT[13], NC_000009.12:g.120794508GT[14], NC_000009.12:g.120794508GT[15], NC_000009.12:g.120794508GT[16], NC_000009.12:g.120794508GT[17], NC_000009.12:g.120794508GT[18], NC_000009.12:g.120794508GT[19], NC_000009.12:g.120794508GT[21], NC_000009.12:g.120794508GT[22], NC_000009.12:g.120794508GT[23], NC_000009.12:g.120794508GT[24], NC_000009.12:g.120794508GT[25], NC_000009.12:g.120794508GT[26], NC_000009.12:g.120794508GT[27], NC_000009.12:g.120794508GT[29], NC_000009.12:g.120794508GT[31], NC_000009.11:g.123556786GT[6], NC_000009.11:g.123556786GT[7], NC_000009.11:g.123556786GT[8], NC_000009.11:g.123556786GT[9], NC_000009.11:g.123556786GT[10], NC_000009.11:g.123556786GT[11], NC_000009.11:g.123556786GT[12], NC_000009.11:g.123556786GT[13], NC_000009.11:g.123556786GT[14], NC_000009.11:g.123556786GT[15], NC_000009.11:g.123556786GT[16], NC_000009.11:g.123556786GT[17], NC_000009.11:g.123556786GT[18], NC_000009.11:g.123556786GT[19], NC_000009.11:g.123556786GT[21], NC_000009.11:g.123556786GT[22], NC_000009.11:g.123556786GT[23], NC_000009.11:g.123556786GT[24], NC_000009.11:g.123556786GT[25], NC_000009.11:g.123556786GT[26], NC_000009.11:g.123556786GT[27], NC_000009.11:g.123556786GT[29], NC_000009.11:g.123556786GT[31]

Select item 14910217732.

rs1491021773 has merged into rs34598368 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTTT [Show Flanks]
Chromosome:: 9:120800130 (GRCh38)
9:123562408 (GRCh37)
Canonical SPDI:: NC_000009.12:120800116:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000009.12:120800116:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000009.12:120800116:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000009.12:120800116:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000009.12:120800116:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000009.12:120800116:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000009.12:120800116:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000009.12:120800116:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:120800116:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT
Gene:: B3GALT9 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000009.12:g.120800130_120800133del, NC_000009.12:g.120800131_120800133del, NC_000009.12:g.120800132_120800133del, NC_000009.12:g.120800133del, NC_000009.12:g.120800133dup, NC_000009.12:g.120800132_120800133dup, NC_000009.12:g.120800131_120800133dup, NC_000009.12:g.120800129_120800133dup, NC_000009.12:g.120800127_120800133dup, NC_000009.11:g.123562408_123562411del, NC_000009.11:g.123562409_123562411del, NC_000009.11:g.123562410_123562411del, NC_000009.11:g.123562411del, NC_000009.11:g.123562411dup, NC_000009.11:g.123562410_123562411dup, NC_000009.11:g.123562409_123562411dup, NC_000009.11:g.123562407_123562411dup, NC_000009.11:g.123562405_123562411dup, NR_027442.2:n.1983_1986del, NR_027442.2:n.1984_1986del, NR_027442.2:n.1985_1986del, NR_027442.2:n.1986del, NR_027442.2:n.1986dup, NR_027442.2:n.1985_1986dup, NR_027442.2:n.1984_1986dup, NR_027442.2:n.1982_1986dup, NR_027442.2:n.1980_1986dup, NM_001386823.1:c.*452_*455del, NM_001386823.1:c.*453_*455del, NM_001386823.1:c.*454_*455del, NM_001386823.1:c.*455del, NM_001386823.1:c.*455dup, NM_001386823.1:c.*454_*455dup, NM_001386823.1:c.*453_*455dup, NM_001386823.1:c.*451_*455dup, NM_001386823.1:c.*449_*455dup, NR_172066.1:n.2012_2015del, NR_172066.1:n.2013_2015del, NR_172066.1:n.2014_2015del, NR_172066.1:n.2015del, NR_172066.1:n.2015dup, NR_172066.1:n.2014_2015dup, NR_172066.1:n.2013_2015dup, NR_172066.1:n.2011_2015dup, NR_172066.1:n.2009_2015dup

Select item 14908380893.

rs1490838089 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 9:120797489 (GRCh38)
9:123559767 (GRCh37)
Canonical SPDI:: NC_000009.12:120797488:G:C
Gene:: B3GALT9 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.120797489G>C, NC_000009.11:g.123559767G>C

Select item 14908255684.

rs1490825568 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:120791842 (GRCh38)
9:123554120 (GRCh37)
Canonical SPDI:: NC_000009.12:120791841:C:T
Gene:: FBXW2 (Varview), B3GALT9 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000026/7 (TOPMED)
T=0.000036/5 (GnomAD)
HGVS:: NC_000009.12:g.120791842C>T, NC_000009.11:g.123554120C>T

Select item 14906901975.

rs1490690197 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:120798748 (GRCh38)
9:123561026 (GRCh37)
Canonical SPDI:: NC_000009.12:120798747:C:T
Gene:: B3GALT9 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000009.12:g.120798748C>T, NC_000009.11:g.123561026C>T, NR_027442.2:n.601C>T, NM_001386823.1:c.180C>T, NR_172066.1:n.630C>T

Select item 14906741876.

rs1490674187 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:120797098 (GRCh38)
9:123559376 (GRCh37)
Canonical SPDI:: NC_000009.12:120797097:A:G
Gene:: B3GALT9 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0.03903/463 (ALFA)
G=0.07613/222 (KOREAN)
HGVS:: NC_000009.12:g.120797098A>G, NC_000009.11:g.123559376A>G

Select item 14902360677.

rs1490236067 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACACCTAGAAGA>- [Show Flanks]
Chromosome:: 9:120799174 (GRCh38)
9:123561452 (GRCh37)
Canonical SPDI:: NC_000009.12:120799169:AAGAACACCTAGAAGA:AAGA
Gene:: B3GALT9 (Varview)
Functional Consequence:: coding_sequence_variant,inframe_deletion,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: AAGA=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000009.12:g.120799174_120799185del, NC_000009.11:g.123561452_123561463del, NR_027442.2:n.1027_1038del, NM_001386823.1:c.606_617del, NR_172066.1:n.1056_1067del, NP_001373752.1:p.Glu202_Glu205del

Select item 14893892218.

rs1489389221 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 9:120796544 (GRCh38)
9:123558822 (GRCh37)
Canonical SPDI:: NC_000009.12:120796543:G:A,NC_000009.12:120796543:G:C
Gene:: B3GALT9 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
A=0.000035/1 (TOMMO)
HGVS:: NC_000009.12:g.120796544G>A, NC_000009.12:g.120796544G>C, NC_000009.11:g.123558822G>A, NC_000009.11:g.123558822G>C, NM_001386823.1:c.-60G>A, NM_001386823.1:c.-60G>C

Select item 14893827769.

rs1489382776 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:120793687 (GRCh38)
9:123555965 (GRCh37)
Canonical SPDI:: NC_000009.12:120793686:T:C
Gene:: FBXW2 (Varview), B3GALT9 (Varview)
Functional Consequence:: 5_prime_UTR_variant,upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000015/4 (TOPMED)
HGVS:: NC_000009.12:g.120793687T>C, NC_000009.11:g.123555965T>C, NR_027442.2:n.192T>C, NM_001386823.1:c.-417T>C, NR_172066.1:n.221T>C, NR_027442.1:n.191T>C

Select item 148854189410.

rs1488541894 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:120802191 (GRCh38)
9:123564469 (GRCh37)
Canonical SPDI:: NC_000009.12:120802190:T:C
Gene:: B3GALT9 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.120802191T>C, NC_000009.11:g.123564469T>C

Select item 148839457511.

rs1488394575 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:120799704 (GRCh38)
9:123561982 (GRCh37)
Canonical SPDI:: NC_000009.12:120799703:C:T
Gene:: B3GALT9 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000009.12:g.120799704C>T, NC_000009.11:g.123561982C>T, NR_027442.2:n.1557C>T, NM_001386823.1:c.*26C>T, NR_172066.1:n.1586C>T

Select item 148813756412.

rs1488137564 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:120792822 (GRCh38)
9:123555100 (GRCh37)
Canonical SPDI:: NC_000009.12:120792821:C:T
Gene:: FBXW2 (Varview), B3GALT9 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000009.12:g.120792822C>T, NC_000009.11:g.123555100C>T

Select item 148808262413.

rs1488082624 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 9:120801376 (GRCh38)
9:123563654 (GRCh37)
Canonical SPDI:: NC_000009.12:120801375:A:G,NC_000009.12:120801375:A:T
Gene:: B3GALT9 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0.000671/3 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.120801376A>G, NC_000009.12:g.120801376A>T, NC_000009.11:g.123563654A>G, NC_000009.11:g.123563654A>T, NR_027442.2:n.3229A>G, NR_027442.2:n.3229A>T, NM_001386823.1:c.*1698A>G, NM_001386823.1:c.*1698A>T, NR_172066.1:n.3258A>G, NR_172066.1:n.3258A>T

Select item 148744970714.

rs1487449707 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:120793347 (GRCh38)
9:123555625 (GRCh37)
Canonical SPDI:: NC_000009.12:120793346:T:C
Gene:: FBXW2 (Varview), B3GALT9 (Varview)
Functional Consequence:: 5_prime_UTR_variant,upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000009.12:g.120793347T>C, NC_000009.11:g.123555625T>C, XM_047423213.1:c.-385A>G, XM_047423215.1:c.-514A>G

Select item 148672919215.

rs1486729192 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:120793254 (GRCh38)
9:123555532 (GRCh37)
Canonical SPDI:: NC_000009.12:120793253:G:A
Gene:: FBXW2 (Varview), B3GALT9 (Varview)
Functional Consequence:: 5_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000009.12:g.120793254G>A, NC_000009.11:g.123555532G>A, XM_006717049.4:c.-292C>T, XM_006717049.3:c.-292C>T, XM_006717049.2:c.-292C>T, XM_006717049.1:c.-292C>T, NM_012164.4:c.-126C>T, NM_012164.3:c.-126C>T, XM_006717051.3:c.-292C>T, XM_006717051.2:c.-292C>T, XM_006717051.1:c.-292C>T, XM_017014615.3:c.-126C>T, XM_017014615.2:c.-126C>T, XM_017014615.1:c.-126C>T, XM_024447509.2:c.-126C>T, XM_024447509.1:c.-126C>T, XM_047423213.1:c.-292C>T, NM_001375890.1:c.-292C>T, XM_047423215.1:c.-421C>T, NM_001375888.1:c.-126C>T, XM_047423214.1:c.-421C>T, NM_001375889.1:c.-421C>T, XM_047423217.1:c.-421C>T, XM_047423218.1:c.-421C>T, XM_047423216.1:c.-292C>T

Select item 148665832316.

rs1486658323 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,G [Show Flanks]
Chromosome:: 9:120793111 (GRCh38)
9:123555389 (GRCh37)
Canonical SPDI:: NC_000009.12:120793110:T:A,NC_000009.12:120793110:T:G
Gene:: FBXW2 (Varview), B3GALT9 (Varview)
Functional Consequence:: 5_prime_UTR_variant,upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000142/2 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.120793111T>A, NC_000009.12:g.120793111T>G, NC_000009.11:g.123555389T>A, NC_000009.11:g.123555389T>G, XM_006717049.4:c.-149A>T, XM_006717049.4:c.-149A>C, XM_006717049.3:c.-149A>T, XM_006717049.3:c.-149A>C, XM_006717049.2:c.-149A>T, XM_006717049.2:c.-149A>C, XM_006717049.1:c.-149A>T, XM_006717049.1:c.-149A>C, XM_006717051.3:c.-149A>T, XM_006717051.3:c.-149A>C, XM_006717051.2:c.-149A>T, XM_006717051.2:c.-149A>C, XM_006717051.1:c.-149A>T, XM_006717051.1:c.-149A>C, XM_047423213.1:c.-149A>T, XM_047423213.1:c.-149A>C, NM_001375890.1:c.-149A>T, NM_001375890.1:c.-149A>C, XM_047423216.1:c.-149A>T, XM_047423216.1:c.-149A>C

Select item 148620428217.

rs1486204282 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 9:120799210 (GRCh38)
9:123561488 (GRCh37)
Canonical SPDI:: NC_000009.12:120799209:T:G
Gene:: B3GALT9 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.120799210T>G, NC_000009.11:g.123561488T>G, NR_027442.2:n.1063T>G, NM_001386823.1:c.642T>G, NR_172066.1:n.1092T>G, NP_001373752.1:p.His214Gln

Select item 148612293218.

rs1486122932 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 9:120797362 (GRCh38)
9:123559640 (GRCh37)
Canonical SPDI:: NC_000009.12:120797361:C:G
Gene:: B3GALT9 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.120797362C>G, NC_000009.11:g.123559640C>G

Select item 148609018319.

rs1486090183 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:120796426 (GRCh38)
9:123558704 (GRCh37)
Canonical SPDI:: NC_000009.12:120796425:G:A
Gene:: B3GALT9 (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=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.120796426G>A, NC_000009.11:g.123558704G>A, NM_001386823.1:c.-178G>A

Select item 148584816720.

rs1485848167 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 9:120794322 (GRCh38)
9:123556600 (GRCh37)
Canonical SPDI:: NC_000009.12:120794321:A:T
Gene:: FBXW2 (Varview), B3GALT9 (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./0 (Korea1K)
T=0.000008/2 (TOPMED)
T=0.000035/1 (TOMMO)
T=0.001027/3 (KOREAN)
HGVS:: NC_000009.12:g.120794322A>T, NC_000009.11:g.123556600A>T

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