SNP Links for Gene (Select 2250) - SNP

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Select item 14910287861.

rs1491028786 has merged into rs200626494 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAA>-,A,AA,AAAA,AAAAA [Show Flanks]
Chromosome:: 4:80276778 (GRCh38)
4:81197932 (GRCh37)
Canonical SPDI:: NC_000004.12:80276766:AAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000004.12:80276766:AAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000004.12:80276766:AAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000004.12:80276766:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000004.12:80276766:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA
Gene:: FGF5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAA=0./0 (ALFA)
A=0.18227/109 (NorthernSweden)
A=0.35/14 (GENOME_DK)
HGVS:: NC_000004.12:g.80276778_80276780del, NC_000004.12:g.80276779_80276780del, NC_000004.12:g.80276780del, NC_000004.12:g.80276780dup, NC_000004.12:g.80276779_80276780dup, NC_000004.11:g.81197932_81197934del, NC_000004.11:g.81197933_81197934del, NC_000004.11:g.81197934del, NC_000004.11:g.81197934dup, NC_000004.11:g.81197933_81197934dup, NG_029501.1:g.15191_15193del, NG_029501.1:g.15192_15193del, NG_029501.1:g.15193del, NG_029501.1:g.15193dup, NG_029501.1:g.15192_15193dup

Select item 14908456102.

rs1490845610 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:80273616 (GRCh38)
4:81194770 (GRCh37)
Canonical SPDI:: NC_000004.12:80273615:T:C
Gene:: FGF5 (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_000004.12:g.80273616T>C, NC_000004.11:g.81194770T>C, NG_029501.1:g.12029T>C

Select item 14907885063.

rs1490788506 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 4:80281757 (GRCh38)
4:81202911 (GRCh37)
Canonical SPDI:: NC_000004.12:80281756:C:A,NC_000004.12:80281756:C:G,NC_000004.12:80281756:C:T
Gene:: FGF5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000004.12:g.80281757C>A, NC_000004.12:g.80281757C>G, NC_000004.12:g.80281757C>T, NC_000004.11:g.81202911C>A, NC_000004.11:g.81202911C>G, NC_000004.11:g.81202911C>T, NG_029501.1:g.20170C>A, NG_029501.1:g.20170C>G, NG_029501.1:g.20170C>T

Select item 14907376374.

rs1490737637 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 4:80267076 (GRCh38)
4:81188230 (GRCh37)
Canonical SPDI:: NC_000004.12:80267075:G:C
Gene:: FGF5 (Varview)
Functional Consequence:: synonymous_variant,upstream_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000028/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000004.12:g.80267076G>C, NC_000004.11:g.81188230G>C, NG_029501.1:g.5489G>C, NM_004464.4:c.252G>C, NM_004464.3:c.252G>C, NM_033143.2:c.252G>C

Select item 14905886065.

rs1490588606 has merged into rs1008104370 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>-,AA [Show Flanks]
Chromosome:: 4:80280632 (GRCh38)
4:81201786 (GRCh37)
Canonical SPDI:: NC_000004.12:80280631:AAAAAAA:AAAAAA,NC_000004.12:80280631:AAAAAAA:AAAAAAAA
Gene:: FGF5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAA=0./0 (ALFA)
-=0.00031/2 (1000Genomes)
-=0.00055/1 (Korea1K)
HGVS:: NC_000004.12:g.80280638del, NC_000004.12:g.80280638dup, NC_000004.11:g.81201792del, NC_000004.11:g.81201792dup, NG_029501.1:g.19051del, NG_029501.1:g.19051dup

Select item 14905747846.

rs1490574784 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:80274980 (GRCh38)
4:81196134 (GRCh37)
Canonical SPDI:: NC_000004.12:80274979:G:A
Gene:: FGF5 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.80274980G>A, NC_000004.11:g.81196134G>A, NG_029501.1:g.13393G>A, NM_004464.4:c.427G>A, NM_004464.3:c.427G>A, NM_001291812.2:c.-3G>A, NM_001291812.1:c.-3G>A, NP_004455.2:p.Ala143Thr

Select item 14900947607.

rs1490094760 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:80272869 (GRCh38)
4:81194023 (GRCh37)
Canonical SPDI:: NC_000004.12:80272868:A:G
Gene:: FGF5 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000004.12:g.80272869A>G, NC_000004.11:g.81194023A>G, NG_029501.1:g.11282A>G

Select item 14900493238.

rs1490049323 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:80264822 (GRCh38)
4:81185976 (GRCh37)
Canonical SPDI:: NC_000004.12:80264821:C:T
Gene:: FGF5 (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.80264822C>T, NC_000004.11:g.81185976C>T, NG_029501.1:g.3235C>T

Select item 14900161949.

rs1490016194 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:80286939 (GRCh38)
4:81208093 (GRCh37)
Canonical SPDI:: NC_000004.12:80286938:T:C
Gene:: FGF5 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.80286939T>C, NC_000004.11:g.81208093T>C, NG_029501.1:g.25352T>C, NM_004464.4:c.*267T>C, NM_004464.3:c.*267T>C, NM_033143.2:c.*598T>C, NM_001291812.2:c.*267T>C, NM_001291812.1:c.*267T>C

Select item 148988371910.

rs1489883719 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 4:80287762 (GRCh38)
4:81208916 (GRCh37)
Canonical SPDI:: NC_000004.12:80287761:T:A
Gene:: FGF5 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.80287762T>A, NC_000004.11:g.81208916T>A, NG_029501.1:g.26175T>A, NM_004464.4:c.*1090T>A, NM_004464.3:c.*1090T>A, NM_033143.2:c.*1421T>A, NM_001291812.2:c.*1090T>A, NM_001291812.1:c.*1090T>A

Select item 148977544511.

rs1489775445 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:80287728 (GRCh38)
4:81208882 (GRCh37)
Canonical SPDI:: NC_000004.12:80287727:A:G
Gene:: FGF5 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000019/5 (TOPMED)
HGVS:: NC_000004.12:g.80287728A>G, NC_000004.11:g.81208882A>G, NG_029501.1:g.26141A>G, NM_004464.4:c.*1056A>G, NM_004464.3:c.*1056A>G, NM_033143.2:c.*1387A>G, NM_001291812.2:c.*1056A>G, NM_001291812.1:c.*1056A>G

Select item 148968374412.

rs1489683744 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:80286824 (GRCh38)
4:81207978 (GRCh37)
Canonical SPDI:: NC_000004.12:80286823:A:G
Gene:: FGF5 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
G=0.000019/5 (TOPMED)
HGVS:: NC_000004.12:g.80286824A>G, NC_000004.11:g.81207978A>G, NG_029501.1:g.25237A>G, NM_004464.4:c.*152A>G, NM_004464.3:c.*152A>G, NM_033143.2:c.*483A>G, NM_001291812.2:c.*152A>G, NM_001291812.1:c.*152A>G

Select item 148966726213.

rs1489667262 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:80271564 (GRCh38)
4:81192718 (GRCh37)
Canonical SPDI:: NC_000004.12:80271563:G:A
Gene:: FGF5 (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.80271564G>A, NC_000004.11:g.81192718G>A, NG_029501.1:g.9977G>A

Select item 148954213514.

rs1489542135 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 4:80287428 (GRCh38)
4:81208582 (GRCh37)
Canonical SPDI:: NC_000004.12:80287427:G:C,NC_000004.12:80287427:G:T
Gene:: FGF5 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.80287428G>C, NC_000004.12:g.80287428G>T, NC_000004.11:g.81208582G>C, NC_000004.11:g.81208582G>T, NG_029501.1:g.25841G>C, NG_029501.1:g.25841G>T, NM_004464.4:c.*756G>C, NM_004464.4:c.*756G>T, NM_004464.3:c.*756G>C, NM_004464.3:c.*756G>T, NM_033143.2:c.*1087G>C, NM_033143.2:c.*1087G>T, NM_001291812.2:c.*756G>C, NM_001291812.2:c.*756G>T, NM_001291812.1:c.*756G>C, NM_001291812.1:c.*756G>T

Select item 148948066815.

rs1489480668 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 4:80289783 (GRCh38)
4:81210937 (GRCh37)
Canonical SPDI:: NC_000004.12:80289782:C:A
Gene:: FGF5 (Varview)
Functional Consequence:: 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_000004.12:g.80289783C>A, NC_000004.11:g.81210937C>A, NG_029501.1:g.28196C>A, NM_004464.4:c.*3111C>A, NM_004464.3:c.*3111C>A, NM_033143.2:c.*3442C>A, NM_001291812.2:c.*3111C>A, NM_001291812.1:c.*3111C>A

Select item 148939138616.

rs1489391386 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 4:80278546 (GRCh38)
4:81199700 (GRCh37)
Canonical SPDI:: NC_000004.12:80278545:G:C
Gene:: FGF5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.00046/8 (TOMMO)
HGVS:: NC_000004.12:g.80278546G>C, NC_000004.11:g.81199700G>C, NG_029501.1:g.16959G>C

Select item 148937474417.

rs1489374744 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:80265275 (GRCh38)
4:81186429 (GRCh37)
Canonical SPDI:: NC_000004.12:80265274:C:T
Gene:: FGF5 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000004.12:g.80265275C>T, NC_000004.11:g.81186429C>T, NG_029501.1:g.3688C>T

Select item 148916487018.

rs1489164870 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:80283799 (GRCh38)
4:81204953 (GRCh37)
Canonical SPDI:: NC_000004.12:80283798:T:C
Gene:: FGF5 (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_000004.12:g.80283799T>C, NC_000004.11:g.81204953T>C, NG_029501.1:g.22212T>C

Select item 148915210019.

rs1489152100 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:80286479 (GRCh38)
4:81207633 (GRCh37)
Canonical SPDI:: NC_000004.12:80286478:G:A
Gene:: FGF5 (Varview)
Functional Consequence:: missense_variant,3_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000035/1 (TOMMO)
HGVS:: NC_000004.12:g.80286479G>A, NC_000004.11:g.81207633G>A, NG_029501.1:g.24892G>A, NM_004464.4:c.614G>A, NM_004464.3:c.614G>A, NM_033143.2:c.*138G>A, NM_001291812.2:c.185G>A, NM_001291812.1:c.185G>A, NP_004455.2:p.Arg205Gln, NP_001278741.1:p.Arg62Gln

Select item 148892614720.

rs1488926147 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:80279518 (GRCh38)
4:81200672 (GRCh37)
Canonical SPDI:: NC_000004.12:80279517:T:C
Gene:: FGF5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.80279518T>C, NC_000004.11:g.81200672T>C, NG_029501.1:g.17931T>C