SNP Links for Gene (Select 2294) - SNP

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Select item 14907316871.

rs1490731687 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 16:86511144 (GRCh38)
16:86544750 (GRCh37)
Canonical SPDI:: NC_000016.10:86511143:T:G
Gene:: FOXF1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
HGVS:: NC_000016.10:g.86511144T>G, NC_000016.9:g.86544750T>G, NG_016273.1:g.5618T>G, NM_001451.3:c.575T>G, NM_001451.2:c.575T>G, NP_001442.2:p.Leu192Arg

Select item 14907027772.

rs1490702777 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 16:86510178 (GRCh38)
16:86543784 (GRCh37)
Canonical SPDI:: NC_000016.10:86510177:A:C
Gene:: FOXF1 (Varview), FENDRR (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000016.10:g.86510178A>C, NC_000016.9:g.86543784A>C, NG_016273.1:g.4652A>C

Select item 14906109903.

rs1490610990 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 16:86514191 (GRCh38)
16:86547797 (GRCh37)
Canonical SPDI:: NC_000016.10:86514190:AAAAA:AAAA
Gene:: FOXF1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: AAAA=0.000071/1 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.86514195del, NC_000016.9:g.86547801del, NG_016273.1:g.8669del, NM_001451.3:c.*1110del, NM_001451.2:c.*1110del

Select item 14898644974.

rs1489864497 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:86510364 (GRCh38)
16:86543970 (GRCh37)
Canonical SPDI:: NC_000016.10:86510363:G:A
Gene:: FOXF1 (Varview), FENDRR (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_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_000016.10:g.86510364G>A, NC_000016.9:g.86543970G>A, NG_016273.1:g.4838G>A

Select item 14894637905.

rs1489463790 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: 16:86513624 (GRCh38)
16:86547230 (GRCh37)
Canonical SPDI:: NC_000016.10:86513623:AA:
Gene:: FOXF1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000015/4 (TOPMED)
-=0.000021/3 (GnomAD)
HGVS:: NC_000016.10:g.86513624_86513625del, NC_000016.9:g.86547230_86547231del, NG_016273.1:g.8098_8099del, NM_001451.3:c.*539_*540del, NM_001451.2:c.*539_*540del

Select item 14894122626.

rs1489412262 has merged into rs397854726 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTT>-,TTT,TTTT,TTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 16:86514256 (GRCh38)
16:86547862 (GRCh37)
Canonical SPDI:: NC_000016.10:86514249:TTTTTTTTTTTT:TTTTTT,NC_000016.10:86514249:TTTTTTTTTTTT:TTTTTTTTT,NC_000016.10:86514249:TTTTTTTTTTTT:TTTTTTTTTT,NC_000016.10:86514249:TTTTTTTTTTTT:TTTTTTTTTTT,NC_000016.10:86514249:TTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000016.10:86514249:TTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000016.10:86514249:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000016.10:86514249:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000016.10:86514249:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000016.10:86514249:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT
Gene:: FOXF1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Clinical significance:: benign,conflicting-interpretations-of-pathogenicity
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0./0 (ALFA)
-=0.1207/465 (ALSPAC)
-=0.4273/988 (1000Genomes)
HGVS:: NC_000016.10:g.86514256_86514261del, NC_000016.10:g.86514259_86514261del, NC_000016.10:g.86514260_86514261del, NC_000016.10:g.86514261del, NC_000016.10:g.86514261dup, NC_000016.10:g.86514259_86514261dup, NC_000016.10:g.86514257_86514261dup, NC_000016.10:g.86514256_86514261dup, NC_000016.10:g.86514255_86514261dup, NC_000016.10:g.86514253_86514261dup, NC_000016.9:g.86547862_86547867del, NC_000016.9:g.86547865_86547867del, NC_000016.9:g.86547866_86547867del, NC_000016.9:g.86547867del, NC_000016.9:g.86547867dup, NC_000016.9:g.86547865_86547867dup, NC_000016.9:g.86547863_86547867dup, NC_000016.9:g.86547862_86547867dup, NC_000016.9:g.86547861_86547867dup, NC_000016.9:g.86547859_86547867dup, NG_016273.1:g.8730_8735del, NG_016273.1:g.8733_8735del, NG_016273.1:g.8734_8735del, NG_016273.1:g.8735del, NG_016273.1:g.8735dup, NG_016273.1:g.8733_8735dup, NG_016273.1:g.8731_8735dup, NG_016273.1:g.8730_8735dup, NG_016273.1:g.8729_8735dup, NG_016273.1:g.8727_8735dup, NM_001451.3:c.*1171_*1176del, NM_001451.3:c.*1174_*1176del, NM_001451.3:c.*1175_*1176del, NM_001451.3:c.*1176del, NM_001451.3:c.*1176dup, NM_001451.3:c.*1174_*1176dup, NM_001451.3:c.*1172_*1176dup, NM_001451.3:c.*1171_*1176dup, NM_001451.3:c.*1170_*1176dup, NM_001451.3:c.*1168_*1176dup, NM_001451.2:c.*1171_*1176del, NM_001451.2:c.*1174_*1176del, NM_001451.2:c.*1175_*1176del, NM_001451.2:c.*1176del, NM_001451.2:c.*1176dup, NM_001451.2:c.*1174_*1176dup, NM_001451.2:c.*1172_*1176dup, NM_001451.2:c.*1171_*1176dup, NM_001451.2:c.*1170_*1176dup, NM_001451.2:c.*1168_*1176dup

Select item 14893520317.

rs1489352031 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 16:86512720 (GRCh38)
16:86546326 (GRCh37)
Canonical SPDI:: NC_000016.10:86512719:C:A,NC_000016.10:86512719:C:T
Gene:: FOXF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.86512720C>A, NC_000016.10:g.86512720C>T, NC_000016.9:g.86546326C>A, NC_000016.9:g.86546326C>T, NG_016273.1:g.7194C>A, NG_016273.1:g.7194C>T

Select item 14891593168.

rs1489159316 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:86511395 (GRCh38)
16:86545001 (GRCh37)
Canonical SPDI:: NC_000016.10:86511394:G:A
Gene:: FOXF1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.86511395G>A, NC_000016.9:g.86545001G>A, NG_016273.1:g.5869G>A, NM_001451.3:c.826G>A, NM_001451.2:c.826G>A, NP_001442.2:p.Ala276Thr

Select item 14887667739.

rs1488766773 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 16:86509347 (GRCh38)
16:86542953 (GRCh37)
Canonical SPDI:: NC_000016.10:86509346:T:A
Gene:: FOXF1 (Varview), FENDRR (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000016.10:g.86509347T>A, NC_000016.9:g.86542953T>A, NG_016273.1:g.3821T>A

Select item 148831819910.

rs1488318199 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:86514832 (GRCh38)
16:86548438 (GRCh37)
Canonical SPDI:: NC_000016.10:86514831:T:C
Gene:: FOXF1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000035/1 (TOMMO)
HGVS:: NC_000016.10:g.86514832T>C, NC_000016.9:g.86548438T>C, NG_016273.1:g.9306T>C, NM_001451.3:c.*1747T>C

Select item 148782837311.

rs1487828373 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:86513924 (GRCh38)
16:86547530 (GRCh37)
Canonical SPDI:: NC_000016.10:86513923:C:T
Gene:: FOXF1 (Varview)
Functional Consequence:: 3_prime_UTR_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_000016.10:g.86513924C>T, NC_000016.9:g.86547530C>T, NG_016273.1:g.8398C>T, NM_001451.3:c.*839C>T, NM_001451.2:c.*839C>T

Select item 148777765712.

rs1487777657 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTC>- [Show Flanks]
Chromosome:: 16:86514608 (GRCh38)
16:86548214 (GRCh37)
Canonical SPDI:: NC_000016.10:86514602:TCCTCCTC:TCCTC
Gene:: FOXF1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCCTC=0.000071/1 (ALFA)
-=0.000029/4 (GnomAD)
-=0.000038/10 (TOPMED)
HGVS:: NC_000016.10:g.86514605CTC[1], NC_000016.9:g.86548211CTC[1], NG_016273.1:g.9079CTC[1], NM_001451.3:c.*1520CTC[1]

Select item 148772706613.

rs1487727066 [Homo sapiens]

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

Select item 148747006014.

rs1487470060 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:86511393 (GRCh38)
16:86544999 (GRCh37)
Canonical SPDI:: NC_000016.10:86511392:C:T
Gene:: FOXF1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.86511393C>T, NC_000016.9:g.86544999C>T, NG_016273.1:g.5867C>T, NM_001451.3:c.824C>T, NM_001451.2:c.824C>T, NP_001442.2:p.Ser275Phe

Select item 148709077315.

rs1487090773 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 16:86508885 (GRCh38)
16:86542491 (GRCh37)
Canonical SPDI:: NC_000016.10:86508884:G:C
Gene:: FOXF1 (Varview), FENDRR (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=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.86508885G>C, NC_000016.9:g.86542491G>C, NG_016273.1:g.3359G>C

Select item 148653978016.

rs1486539780 [Homo sapiens]

Variant type:: DELINS
Alleles:: GGCGCTGGCCC>- [Show Flanks]
Chromosome:: 16:86512495 (GRCh38)
16:86546101 (GRCh37)
Canonical SPDI:: NC_000016.10:86512486:GCTGGCCCGGCGCTGGCCC:GCTGGCCC
Gene:: FOXF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GCTGGCCC=0./0 (ALFA)
-=0.000014/2 (GnomAD)
-=0.000015/4 (TOPMED)
HGVS:: NC_000016.10:g.86512495_86512505del, NC_000016.9:g.86546101_86546111del, NG_016273.1:g.6969_6979del

Select item 148642356117.

rs1486423561 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 16:86510341 (GRCh38)
16:86543947 (GRCh37)
Canonical SPDI:: NC_000016.10:86510340:C:A
Gene:: FOXF1 (Varview), FENDRR (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000071/9 (GnomAD)
HGVS:: NC_000016.10:g.86510341C>A, NC_000016.9:g.86543947C>A, NG_016273.1:g.4815C>A

Select item 148577588418.

rs1485775884 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 16:86509015 (GRCh38)
16:86542621 (GRCh37)
Canonical SPDI:: NC_000016.10:86509014:A:T
Gene:: FOXF1 (Varview), FENDRR (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_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_000016.10:g.86509015A>T, NC_000016.9:g.86542621A>T, NG_016273.1:g.3489A>T

Select item 148570337719.

rs1485703377 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:86508572 (GRCh38)
16:86542178 (GRCh37)
Canonical SPDI:: NC_000016.10:86508571:C:T
Gene:: FOXF1 (Varview), FENDRR (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.86508572C>T, NC_000016.9:g.86542178C>T, NG_016273.1:g.3046C>T

Select item 148524768520.

rs1485247685 [Homo sapiens]

Variant type:: DEL
Alleles:: CCTTCCGGCCAATGGCAGAAGTGGGGG>- [Show Flanks]
Chromosome:: 16:86513432 (GRCh38)
16:86547038 (GRCh37)
Canonical SPDI:: NC_000016.10:86513431:CCTTCCGGCCAATGGCAGAAGTGGGGG:
Gene:: FOXF1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.86513432_86513458del, NC_000016.9:g.86547038_86547064del, NG_016273.1:g.7906_7932del, NM_001451.3:c.*347_*373del, NM_001451.2:c.*347_*373del

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