SNP Links for Gene (Select 83888) - SNP

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Select item 14914243911.

rs1491424391 [Homo sapiens]

Variant type:: DEL
Alleles:: GT>- [Show Flanks]
Chromosome:: 4:15964800 (GRCh38)
4:15966423 (GRCh37)
Canonical SPDI:: NC_000004.12:15964799:GT:
Gene:: FGFBP2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000009/1 (GnomAD)
HGVS:: NC_000004.12:g.15964800_15964801del, NC_000004.11:g.15966423_15966424del

Select item 14911256612.

rs1491125661 has merged into rs55745502 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTT>-,T,TT,TTT,TTTT,TTTTTT,TTTTTTT [Show Flanks]
Chromosome:: 4:15964810 (GRCh38)
4:15966433 (GRCh37)
Canonical SPDI:: NC_000004.12:15964800:TTTTTTTTTTTTTT:TTTTTTTTT,NC_000004.12:15964800:TTTTTTTTTTTTTT:TTTTTTTTTT,NC_000004.12:15964800:TTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000004.12:15964800:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000004.12:15964800:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000004.12:15964800:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000004.12:15964800:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT
Gene:: FGFBP2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
TT=0.459596/273 (NorthernSweden)
-=0.471877/124901 (TOPMED)
TT=0.494209/2475 (1000Genomes)
HGVS:: NC_000004.12:g.15964810_15964814del, NC_000004.12:g.15964811_15964814del, NC_000004.12:g.15964812_15964814del, NC_000004.12:g.15964813_15964814del, NC_000004.12:g.15964814del, NC_000004.12:g.15964814dup, NC_000004.12:g.15964813_15964814dup, NC_000004.11:g.15966433_15966437del, NC_000004.11:g.15966434_15966437del, NC_000004.11:g.15966435_15966437del, NC_000004.11:g.15966436_15966437del, NC_000004.11:g.15966437del, NC_000004.11:g.15966437dup, NC_000004.11:g.15966436_15966437dup

Select item 14910296213.

rs1491029621 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: 4:15964489 (GRCh38)
4:15966112 (GRCh37)
Canonical SPDI:: NC_000004.12:15964487:TGT:T
Gene:: FGFBP2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.001791/8 (ALFA)
-=0.000036/5 (GnomAD)
-=0.000744/21 (TOMMO)
HGVS:: NC_000004.12:g.15964489_15964490del, NC_000004.11:g.15966112_15966113del

Select item 14903894414.

rs1490389441 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 4:15965074 (GRCh38)
4:15966697 (GRCh37)
Canonical SPDI:: NC_000004.12:15965073:G:A,NC_000004.12:15965073:G:C
Gene:: FGFBP2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000004.12:g.15965074G>A, NC_000004.12:g.15965074G>C, NC_000004.11:g.15966697G>A, NC_000004.11:g.15966697G>C

Select item 14894957135.

rs1489495713 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 4:15960611 (GRCh38)
4:15962234 (GRCh37)
Canonical SPDI:: NC_000004.12:15960610:T:A
Gene:: FGFBP2 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000004.12:g.15960611T>A, NC_000004.11:g.15962234T>A, NM_031950.4:c.*21A>T, NM_031950.3:c.*21A>T

Select item 14890098786.

rs1489009878 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:15961017 (GRCh38)
4:15962640 (GRCh37)
Canonical SPDI:: NC_000004.12:15961016:T:C
Gene:: FGFBP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000447/2 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000223/1 (Estonian)
HGVS:: NC_000004.12:g.15961017T>C, NC_000004.11:g.15962640T>C

Select item 14883588117.

rs1488358811 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:15962949 (GRCh38)
4:15964572 (GRCh37)
Canonical SPDI:: NC_000004.12:15962948:C:T
Gene:: FGFBP2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000004.12:g.15962949C>T, NC_000004.11:g.15964572C>T, NM_031950.4:c.181G>A, NM_031950.3:c.181G>A, NP_114156.1:p.Val61Ile

Select item 14879378538.

rs1487937853 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:15963606 (GRCh38)
4:15965229 (GRCh37)
Canonical SPDI:: NC_000004.12:15963605:C:T
Gene:: FGFBP2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.15963606C>T, NC_000004.11:g.15965229C>T

Select item 14879077029.

rs1487907702 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:15963801 (GRCh38)
4:15965424 (GRCh37)
Canonical SPDI:: NC_000004.12:15963800:C:T
Gene:: FGFBP2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: T=0.000014/2 (GnomAD)
HGVS:: NC_000004.12:g.15963801C>T, NC_000004.11:g.15965424C>T

Select item 148767556110.

rs1487675561 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:15961940 (GRCh38)
4:15963563 (GRCh37)
Canonical SPDI:: NC_000004.12:15961939:A:G
Gene:: FGFBP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000023/6 (TOPMED)
HGVS:: NC_000004.12:g.15961940A>G, NC_000004.11:g.15963563A>G

Select item 148690986711.

rs1486909867 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:15962452 (GRCh38)
4:15964075 (GRCh37)
Canonical SPDI:: NC_000004.12:15962451:C:T
Gene:: FGFBP2 (Varview)
Functional Consequence:: 3_prime_UTR_variant
HGVS:: NC_000004.12:g.15962452C>T, NC_000004.11:g.15964075C>T, NM_031950.4:c.*6G>A, NM_031950.3:c.*6G>A

Select item 148603839612.

rs1486038396 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 4:15962290 (GRCh38)
4:15963913 (GRCh37)
Canonical SPDI:: NC_000004.12:15962289:A:T
Gene:: FGFBP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.15962290A>T, NC_000004.11:g.15963913A>T

Select item 148593306613.

rs1485933066 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:15961999 (GRCh38)
4:15963622 (GRCh37)
Canonical SPDI:: NC_000004.12:15961998:C:T
Gene:: FGFBP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000021/3 (GnomAD)
C=0.5/1 (SGDP_PRJ)
HGVS:: NC_000004.12:g.15961999C>T, NC_000004.11:g.15963622C>T

Select item 148557420214.

rs1485574202 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 4:15962266 (GRCh38)
4:15963889 (GRCh37)
Canonical SPDI:: NC_000004.12:15962265:C:G,NC_000004.12:15962265:C:T
Gene:: FGFBP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
T=0.000035/1 (TOMMO)
HGVS:: NC_000004.12:g.15962266C>G, NC_000004.12:g.15962266C>T, NC_000004.11:g.15963889C>G, NC_000004.11:g.15963889C>T

Select item 148547214315.

rs1485472143 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:15963112 (GRCh38)
4:15964735 (GRCh37)
Canonical SPDI:: NC_000004.12:15963111:G:A
Gene:: FGFBP2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.15963112G>A, NC_000004.11:g.15964735G>A, NM_031950.4:c.18C>T, NM_031950.3:c.18C>T

Select item 148458385916.

rs1484583859 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:15961921 (GRCh38)
4:15963544 (GRCh37)
Canonical SPDI:: NC_000004.12:15961920:G:A
Gene:: FGFBP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000004.12:g.15961921G>A, NC_000004.11:g.15963544G>A

Select item 148436942917.

rs1484369429 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 4:15961628 (GRCh38)
4:15963251 (GRCh37)
Canonical SPDI:: NC_000004.12:15961627:A:C
Gene:: FGFBP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.15961628A>C, NC_000004.11:g.15963251A>C

Select item 148383679418.

rs1483836794 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:15963467 (GRCh38)
4:15965090 (GRCh37)
Canonical SPDI:: NC_000004.12:15963466:T:C
Gene:: FGFBP2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000546/1 (Korea1K)
HGVS:: NC_000004.12:g.15963467T>C, NC_000004.11:g.15965090T>C

Select item 148378617419.

rs1483786174 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 4:15964474 (GRCh38)
4:15966097 (GRCh37)
Canonical SPDI:: NC_000004.12:15964473:G:T
Gene:: FGFBP2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.15964474G>T, NC_000004.11:g.15966097G>T

Select item 148231705220.

rs1482317052 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 4:15962455 (GRCh38)
4:15964078 (GRCh37)
Canonical SPDI:: NC_000004.12:15962454:C:G,NC_000004.12:15962454:C:T
Gene:: FGFBP2 (Varview)
Functional Consequence:: 3_prime_UTR_variant
HGVS:: NC_000004.12:g.15962455C>G, NC_000004.12:g.15962455C>T, NC_000004.11:g.15964078C>G, NC_000004.11:g.15964078C>T, NM_031950.4:c.*3G>C, NM_031950.4:c.*3G>A, NM_031950.3:c.*3G>C, NM_031950.3:c.*3G>A

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