SNP Links for Gene (Select 8531) - SNP

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Select item 14915481021.

rs1491548102 has merged into rs11331679 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT,TTTTTTTTTTT,TTTTTTTTTTTT [Show Flanks]
Chromosome:: 12:10708327 (GRCh38)
12:10860926 (GRCh37)
Canonical SPDI:: NC_000012.12:10708318:TTTTTTTTTT:TTTTTTTT,NC_000012.12:10708318:TTTTTTTTTT:TTTTTTTTT,NC_000012.12:10708318:TTTTTTTTTT:TTTTTTTTTTT,NC_000012.12:10708318:TTTTTTTTTT:TTTTTTTTTTTT,NC_000012.12:10708318:TTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000012.12:10708318:TTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT
Gene:: YBX3 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTTTTT=0.0001/1 (ALFA)
-=0.3168/1378 (1000Genomes)
HGVS:: NC_000012.12:g.10708327_10708328del, NC_000012.12:g.10708328del, NC_000012.12:g.10708328dup, NC_000012.12:g.10708327_10708328dup, NC_000012.12:g.10708320_10708328dup, NC_000012.12:g.10708319_10708328dup, NC_000012.11:g.10860926_10860927del, NC_000012.11:g.10860927del, NC_000012.11:g.10860927dup, NC_000012.11:g.10860926_10860927dup, NC_000012.11:g.10860919_10860927dup, NC_000012.11:g.10860918_10860927dup

Select item 14913761342.

rs1491376134 [Homo sapiens]

Variant type:: SNV:
Alleles:: TA>-
Chromosome:: no mapping
Canonical SPDI:

Select item 14911357483.

rs1491135748 has merged into rs200402412 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>-,AA [Show Flanks]
Chromosome:: 12:10714776 (GRCh38)
12:10867375 (GRCh37)
Canonical SPDI:: NC_000012.12:10714775:AAAAAA:AAAAA,NC_000012.12:10714775:AAAAAA:AAAAAAA
Gene:: YBX3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAA=0./0 (ALFA)
-=0.00046/8 (TOMMO)
A=0.07393/38 (1000Genomes)
HGVS:: NC_000012.12:g.10714781del, NC_000012.12:g.10714781dup, NC_000012.11:g.10867380del, NC_000012.11:g.10867380dup

Select item 14910643114.

rs1491064311 has merged into rs11331679 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT,TTTTTTTTTTT,TTTTTTTTTTTT [Show Flanks]
Chromosome:: 12:10708327 (GRCh38)
12:10860926 (GRCh37)
Canonical SPDI:: NC_000012.12:10708318:TTTTTTTTTT:TTTTTTTT,NC_000012.12:10708318:TTTTTTTTTT:TTTTTTTTT,NC_000012.12:10708318:TTTTTTTTTT:TTTTTTTTTTT,NC_000012.12:10708318:TTTTTTTTTT:TTTTTTTTTTTT,NC_000012.12:10708318:TTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000012.12:10708318:TTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT
Gene:: YBX3 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTTTTT=0.0001/1 (ALFA)
-=0.3168/1378 (1000Genomes)
HGVS:: NC_000012.12:g.10708327_10708328del, NC_000012.12:g.10708328del, NC_000012.12:g.10708328dup, NC_000012.12:g.10708327_10708328dup, NC_000012.12:g.10708320_10708328dup, NC_000012.12:g.10708319_10708328dup, NC_000012.11:g.10860926_10860927del, NC_000012.11:g.10860927del, NC_000012.11:g.10860927dup, NC_000012.11:g.10860926_10860927dup, NC_000012.11:g.10860919_10860927dup, NC_000012.11:g.10860918_10860927dup

Select item 14908421605.

rs1490842160 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:10708638 (GRCh38)
12:10861237 (GRCh37)
Canonical SPDI:: NC_000012.12:10708637:C:T
Gene:: YBX3 (Varview)
Functional Consequence:: intron_variant,genic_downstream_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_000012.12:g.10708638C>T, NC_000012.11:g.10861237C>T

Select item 14906458076.

rs1490645807 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 12:10704068 (GRCh38)
12:10856667 (GRCh37)
Canonical SPDI:: NC_000012.12:10704067:G:T
Gene:: YBX3 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,stop_gained
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.10704068G>T, NC_000012.11:g.10856667G>T, NM_003651.5:c.861C>A, NM_003651.4:c.861C>A, XM_017020122.3:c.861C>A, XM_017020122.2:c.861C>A, XM_017020122.1:c.861C>A, XM_017020123.3:c.654C>A, XM_017020123.2:c.654C>A, XM_017020123.1:c.654C>A, NM_001145426.2:c.654C>A, NM_001145426.1:c.654C>A, XM_047429799.1:c.861C>A, NP_003642.3:p.Tyr287Ter, XP_016875611.1:p.Tyr287Ter, XP_016875612.1:p.Tyr218Ter, NP_001138898.1:p.Tyr218Ter, XP_047285755.1:p.Tyr287Ter

Select item 14901914617.

rs1490191461 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 12:10723428 (GRCh38)
12:10876027 (GRCh37)
Canonical SPDI:: NC_000012.12:10723427:C:G,NC_000012.12:10723427:C:T
Gene:: YBX3 (Varview), LOC124902876 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000142/2 (ALFA)
T=0.000049/13 (TOPMED)
T=0.000064/9 (GnomAD)
HGVS:: NC_000012.12:g.10723428C>G, NC_000012.12:g.10723428C>T, NC_000012.11:g.10876027C>G, NC_000012.11:g.10876027C>T, XM_047429946.1:c.319C>G, XM_047429946.1:c.319C>T, XP_047285902.1:p.Pro107Ala, XP_047285902.1:p.Pro107Ser

Select item 14901547868.

rs1490154786 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:10702129 (GRCh38)
12:10854728 (GRCh37)
Canonical SPDI:: NC_000012.12:10702128:C:T
Gene:: YBX3 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0.000047/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.10702129C>T, NC_000012.11:g.10854728C>T, NM_003651.5:c.884G>A, NM_003651.4:c.884G>A, XM_017020122.3:c.875G>A, XM_017020122.2:c.875G>A, XM_017020122.1:c.875G>A, XM_017020123.3:c.668G>A, XM_017020123.2:c.668G>A, XM_017020123.1:c.668G>A, NM_001145426.2:c.677G>A, NM_001145426.1:c.677G>A, XM_047429799.1:c.884G>A, NP_003642.3:p.Gly295Glu, XP_016875611.1:p.Gly292Glu, XP_016875612.1:p.Gly223Glu, NP_001138898.1:p.Gly226Glu, XP_047285755.1:p.Gly295Glu

Select item 14900732479.

rs1490073247 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:10700542 (GRCh38)
12:10853141 (GRCh37)
Canonical SPDI:: NC_000012.12:10700541:T:C
Gene:: YBX3 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000021/3 (GnomAD)
C=0.00003/8 (TOPMED)
HGVS:: NC_000012.12:g.10700542T>C, NC_000012.11:g.10853141T>C

Select item 149006211610.

rs1490062116 [Homo sapiens]

Variant type:: DELINS
Alleles:: AGAA>- [Show Flanks]
Chromosome:: 12:10704534 (GRCh38)
12:10857133 (GRCh37)
Canonical SPDI:: NC_000012.12:10704526:GAAAGAAAGAA:GAAAGAA
Gene:: YBX3 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GAAAGAA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.10704530AGAA[1], NC_000012.11:g.10857129AGAA[1]

Select item 148988629311.

rs1489886293 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:10708735 (GRCh38)
12:10861334 (GRCh37)
Canonical SPDI:: NC_000012.12:10708734:G:A
Gene:: YBX3 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.10708735G>A, NC_000012.11:g.10861334G>A

Select item 148988525212.

rs1489885252 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:10721929 (GRCh38)
12:10874528 (GRCh37)
Canonical SPDI:: NC_000012.12:10721928:T:C
Gene:: YBX3 (Varview), LOC124902876 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.10721929T>C, NC_000012.11:g.10874528T>C

Select item 148975274813.

rs1489752748 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:10722615 (GRCh38)
12:10875214 (GRCh37)
Canonical SPDI:: NC_000012.12:10722614:T:C
Gene:: YBX3 (Varview), LOC124902876 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.10722615T>C, NC_000012.11:g.10875214T>C

Select item 148973993914.

rs1489739939 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:10721919 (GRCh38)
12:10874518 (GRCh37)
Canonical SPDI:: NC_000012.12:10721918:A:G
Gene:: YBX3 (Varview), LOC124902876 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.10721919A>G, NC_000012.11:g.10874518A>G

Select item 148969429615.

rs1489694296 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:10707754 (GRCh38)
12:10860353 (GRCh37)
Canonical SPDI:: NC_000012.12:10707753:C:T
Gene:: YBX3 (Varview)
Functional Consequence:: intron_variant,genic_downstream_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_000012.12:g.10707754C>T, NC_000012.11:g.10860353C>T

Select item 148966106316.

rs1489661063 [Homo sapiens]

Variant type:: INS
Alleles:: ->ATGAACT [Show Flanks]
Chromosome:: 12:10701399 (GRCh38)
12:10853999 (GRCh37)
Canonical SPDI:: NC_000012.12:10701399::ATGAACT
Gene:: YBX3 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: ATGAACT=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.10701399_10701400insATGAACT, NC_000012.11:g.10853998_10853999insATGAACT

Select item 148964198317.

rs1489641983 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:10706718 (GRCh38)
12:10859317 (GRCh37)
Canonical SPDI:: NC_000012.12:10706717:G:A
Gene:: YBX3 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000026/7 (TOPMED)
HGVS:: NC_000012.12:g.10706718G>A, NC_000012.11:g.10859317G>A

Select item 148947277918.

rs1489472779 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 12:10703291 (GRCh38)
12:10855890 (GRCh37)
Canonical SPDI:: NC_000012.12:10703290:C:A
Gene:: YBX3 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000019/5 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000012.12:g.10703291C>A, NC_000012.11:g.10855890C>A

Select item 148921251219.

rs1489212512 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:10718842 (GRCh38)
12:10871441 (GRCh37)
Canonical SPDI:: NC_000012.12:10718841:T:C
Gene:: YBX3 (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_000012.12:g.10718842T>C, NC_000012.11:g.10871441T>C

Select item 148914135320.

rs1489141353 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 12:10717748 (GRCh38)
12:10870347 (GRCh37)
Canonical SPDI:: NC_000012.12:10717747:A:C
Gene:: YBX3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000012.12:g.10717748A>C, NC_000012.11:g.10870347A>C

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