SNP Links for Gene (Select 2297) - SNP

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Select item 14913473321.

rs1491347332 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 5:73449741 (GRCh38)
5:72745566 (GRCh37)
Canonical SPDI:: NC_000005.10:73449740:CA:
Gene:: FOXD1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000005.10:g.73449741_73449742del, NC_000005.9:g.72745566_72745567del

Select item 14910651292.

rs1491065129 has merged into rs34274044 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 5:73449756 (GRCh38)
5:72745581 (GRCh37)
Canonical SPDI:: NC_000005.10:73449741:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000005.10:73449741:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000005.10:73449741:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000005.10:73449741:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000005.10:73449741:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000005.10:73449741:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000005.10:73449741:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000005.10:73449741:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:73449741:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:73449741:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:73449741:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:73449741:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: FOXD1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAA=0./0 (ALFA)
-=0.1909/956 (1000Genomes)
HGVS:: NC_000005.10:g.73449756_73449759del, NC_000005.10:g.73449757_73449759del, NC_000005.10:g.73449758_73449759del, NC_000005.10:g.73449759del, NC_000005.10:g.73449759dup, NC_000005.10:g.73449758_73449759dup, NC_000005.10:g.73449757_73449759dup, NC_000005.10:g.73449755_73449759dup, NC_000005.10:g.73449754_73449759dup, NC_000005.10:g.73449752_73449759dup, NC_000005.10:g.73449749_73449759dup, NC_000005.10:g.73449747_73449759dup, NC_000005.9:g.72745581_72745584del, NC_000005.9:g.72745582_72745584del, NC_000005.9:g.72745583_72745584del, NC_000005.9:g.72745584del, NC_000005.9:g.72745584dup, NC_000005.9:g.72745583_72745584dup, NC_000005.9:g.72745582_72745584dup, NC_000005.9:g.72745580_72745584dup, NC_000005.9:g.72745579_72745584dup, NC_000005.9:g.72745577_72745584dup, NC_000005.9:g.72745574_72745584dup, NC_000005.9:g.72745572_72745584dup

Select item 14904353523.

rs1490435352 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 5:73446946 (GRCh38)
5:72742773 (GRCh37)
Canonical SPDI:: NC_000005.10:73446945:G:C
Gene:: FOXD1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.73446946G>C, NC_000005.9:g.72742773G>C, NM_004472.3:c.*19C>G, NM_004472.2:c.*19C>G

Select item 14903713444.

rs1490371344 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TGGCGG [Show Flanks]
Chromosome:: 5:73447416 (GRCh38)
5:72743244 (GRCh37)
Canonical SPDI:: NC_000005.10:73447416:GCGGTGGCGG:GCGGTGGCGGTGGCGG
Gene:: FOXD1 (Varview)
Functional Consequence:: inframe_insertion,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GCGGTGGCGGTGGCGG=0./0 (ALFA)
GCGGTG=0.000004/1 (TOPMED)
GCGGTG=0.000008/1 (GnomAD)
HGVS:: NC_000005.10:g.73447421_73447426dup, NC_000005.9:g.72743248_72743253dup, NM_004472.3:c.941_946dup, NM_004472.2:c.941_946dup, NP_004463.1:p.Pro314_Pro315dup

Select item 14902121385.

rs1490212138 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:73447184 (GRCh38)
5:72743011 (GRCh37)
Canonical SPDI:: NC_000005.10:73447183:C:T
Gene:: FOXD1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000015/2 (GnomAD)
HGVS:: NC_000005.10:g.73447184C>T, NC_000005.9:g.72743011C>T, NM_004472.3:c.1179G>A, NM_004472.2:c.1179G>A

Select item 14897822996.

rs1489782299 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:73446415 (GRCh38)
5:72742242 (GRCh37)
Canonical SPDI:: NC_000005.10:73446414:A:G
Gene:: FOXD1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.73446415A>G, NC_000005.9:g.72742242A>G, NM_004472.3:c.*550T>C, NM_004472.2:c.*550T>C

Select item 14892758417.

rs1489275841 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 5:73449061 (GRCh38)
5:72744886 (GRCh37)
Canonical SPDI:: NC_000005.10:73449060:A:C
Gene:: FOXD1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000026/7 (TOPMED)
HGVS:: NC_000005.10:g.73449061A>C, NC_000005.9:g.72744886A>C

Select item 14889909068.

rs1488990906 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 5:73450512 (GRCh38)
5:72746337 (GRCh37)
Canonical SPDI:: NC_000005.10:73450511:G:T
Gene:: FOXD1 (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_000005.10:g.73450512G>T, NC_000005.9:g.72746337G>T

Select item 14888446169.

rs1488844616 [Homo sapiens]

Variant type:: DELINS
Alleles:: GGCCGTAGCCGTAGG>- [Show Flanks]
Chromosome:: 5:73447546 (GRCh38)
5:72743371 (GRCh37)
Canonical SPDI:: NC_000005.10:73447536:AGCCGTAGGGGCCGTAGCCGTAGG:AGCCGTAGG
Gene:: FOXD1 (Varview)
Functional Consequence:: coding_sequence_variant,inframe_deletion
Validated:: by frequency,by alfa,by cluster
MAF:: AGCCGTAGG=0.000071/1 (ALFA)
-=0.000015/2 (GnomAD)
HGVS:: NC_000005.10:g.73447546_73447560del, NC_000005.9:g.72743371_72743385del, NM_004472.3:c.812_826del, NM_004472.2:c.812_826del, NP_004463.1:p.Tyr271_Gly275del

Select item 148879514110.

rs1488795141 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:73448746 (GRCh38)
5:72744571 (GRCh37)
Canonical SPDI:: NC_000005.10:73448745:G:A
Gene:: FOXD1 (Varview)
Functional Consequence:: 5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.73448746G>A, NC_000005.9:g.72744571G>A, NM_004472.3:c.-384C>T

Select item 148861236911.

rs1488612369 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:73449559 (GRCh38)
5:72745384 (GRCh37)
Canonical SPDI:: NC_000005.10:73449558:G:A
Gene:: FOXD1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.73449559G>A, NC_000005.9:g.72745384G>A

Select item 148851540212.

rs1488515402 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 5:73448039 (GRCh38)
5:72743864 (GRCh37)
Canonical SPDI:: NC_000005.10:73448038:G:C
Gene:: FOXD1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000005.10:g.73448039G>C, NC_000005.9:g.72743864G>C, NM_004472.3:c.324C>G, NM_004472.2:c.324C>G

Select item 148840613613.

rs1488406136 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 5:73448272 (GRCh38)
5:72744097 (GRCh37)
Canonical SPDI:: NC_000005.10:73448271:C:G,NC_000005.10:73448271:C:T
Gene:: FOXD1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
T=0.000009/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.73448272C>G, NC_000005.10:g.73448272C>T, NC_000005.9:g.72744097C>G, NC_000005.9:g.72744097C>T, NM_004472.3:c.91G>C, NM_004472.3:c.91G>A, NM_004472.2:c.91G>C, NM_004472.2:c.91G>A, NP_004463.1:p.Glu31Gln, NP_004463.1:p.Glu31Lys

Select item 148763930114.

rs1487639301 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GGGCC [Show Flanks]
Chromosome:: 5:73448681 (GRCh38)
5:72744507 (GRCh37)
Canonical SPDI:: NC_000005.10:73448681:GGGCC:GGGCCGGGCC
Gene:: FOXD1 (Varview)
Functional Consequence:: 5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: GGGCCGGGCC=0./0 (ALFA)
GGGCC=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.73448682_73448686dup, NC_000005.9:g.72744507_72744511dup, NM_004472.3:c.-324_-320dup

Select item 148763108115.

rs1487631081 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 5:73448537 (GRCh38)
5:72744362 (GRCh37)
Canonical SPDI:: NC_000005.10:73448536:G:T
Gene:: FOXD1 (Varview)
Functional Consequence:: 5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000005.10:g.73448537G>T, NC_000005.9:g.72744362G>T, NM_004472.3:c.-175C>A

Select item 148762370716.

rs1487623707 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 5:73448009 (GRCh38)
5:72743834 (GRCh37)
Canonical SPDI:: NC_000005.10:73448008:G:C,NC_000005.10:73448008:G:T
Gene:: FOXD1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.73448009G>C, NC_000005.10:g.73448009G>T, NC_000005.9:g.72743834G>C, NC_000005.9:g.72743834G>T, NM_004472.3:c.354C>G, NM_004472.3:c.354C>A, NM_004472.2:c.354C>G, NM_004472.2:c.354C>A

Select item 148753582617.

rs1487535826 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:73448324 (GRCh38)
5:72744149 (GRCh37)
Canonical SPDI:: NC_000005.10:73448323:G:A
Gene:: FOXD1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.73448324G>A, NC_000005.9:g.72744149G>A, NM_004472.3:c.39C>T, NM_004472.2:c.39C>T

Select item 148735599018.

rs1487355990 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 5:73447611 (GRCh38)
5:72743436 (GRCh37)
Canonical SPDI:: NC_000005.10:73447610:G:A,NC_000005.10:73447610:G:T
Gene:: FOXD1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000015/2 (GnomAD)
A=0.000019/5 (TOPMED)
T=0.004673/1 (Vietnamese)
HGVS:: NC_000005.10:g.73447611G>A, NC_000005.10:g.73447611G>T, NC_000005.9:g.72743436G>A, NC_000005.9:g.72743436G>T, NM_004472.3:c.752C>T, NM_004472.3:c.752C>A, NM_004472.2:c.752C>T, NM_004472.2:c.752C>A, NP_004463.1:p.Pro251Leu, NP_004463.1:p.Pro251Gln

Select item 148734698419.

rs1487346984 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:73448382 (GRCh38)
5:72744207 (GRCh37)
Canonical SPDI:: NC_000005.10:73448381:C:T
Gene:: FOXD1 (Varview)
Functional Consequence:: 5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000005.10:g.73448382C>T, NC_000005.9:g.72744207C>T, NM_004472.3:c.-20G>A, NM_004472.2:c.-20G>A

Select item 148712071820.

rs1487120718 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 5:73449802 (GRCh38)
5:72745627 (GRCh37)
Canonical SPDI:: NC_000005.10:73449801:G:T
Gene:: FOXD1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.73449802G>T, NC_000005.9:g.72745627G>T

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