SNP Links for Gene (Select 2348) - SNP

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Select item 14913442431.

rs1491344243 has merged into rs57593168 [Homo sapiens]

Variant type:: DELINS
Alleles:: TATTTATTTATT>-,TATT,TATTTATT,TATTTATTTATTTATT,TATTTATTTATTTATTTATT,TATTTATTTATTTATTTATTTATT [Show Flanks]
Chromosome:: 11:72193790 (GRCh38)
11:71904834 (GRCh37)
Canonical SPDI:: NC_000011.10:72193771:TTTATTTATTTATTTATTTATTTATTTATT:TTTATTTATTTATTTATT,NC_000011.10:72193771:TTTATTTATTTATTTATTTATTTATTTATT:TTTATTTATTTATTTATTTATT,NC_000011.10:72193771:TTTATTTATTTATTTATTTATTTATTTATT:TTTATTTATTTATTTATTTATTTATT,NC_000011.10:72193771:TTTATTTATTTATTTATTTATTTATTTATT:TTTATTTATTTATTTATTTATTTATTTATTTATT,NC_000011.10:72193771:TTTATTTATTTATTTATTTATTTATTTATT:TTTATTTATTTATTTATTTATTTATTTATTTATTTATT,NC_000011.10:72193771:TTTATTTATTTATTTATTTATTTATTTATT:TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATT
Gene:: FOLR1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTATTTATTTATTTATTTATT=0./0 (ALFA)
-=0.195123/51647 (TOPMED)
-=0.25/10 (GENOME_DK)
HGVS:: NC_000011.10:g.72193774TATT[4], NC_000011.10:g.72193774TATT[5], NC_000011.10:g.72193774TATT[6], NC_000011.10:g.72193774TATT[8], NC_000011.10:g.72193774TATT[9], NC_000011.10:g.72193774TATT[10], NC_000011.9:g.71904818TATT[4], NC_000011.9:g.71904818TATT[5], NC_000011.9:g.71904818TATT[6], NC_000011.9:g.71904818TATT[8], NC_000011.9:g.71904818TATT[9], NC_000011.9:g.71904818TATT[10], NG_015863.1:g.9217TATT[4], NG_015863.1:g.9217TATT[5], NG_015863.1:g.9217TATT[6], NG_015863.1:g.9217TATT[8], NG_015863.1:g.9217TATT[9], NG_015863.1:g.9217TATT[10]

Select item 14908726002.

rs1490872600 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:72188899 (GRCh38)
11:71899943 (GRCh37)
Canonical SPDI:: NC_000011.10:72188898:T:C
Gene:: FOLR1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_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_000011.10:g.72188899T>C, NC_000011.9:g.71899943T>C, NG_015863.1:g.4342T>C

Select item 14906116533.

rs1490611653 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 11:72193669 (GRCh38)
11:71904713 (GRCh37)
Canonical SPDI:: NC_000011.10:72193668:C:A
Gene:: FOLR1 (Varview)
Functional Consequence:: intron_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_000011.10:g.72193669C>A, NC_000011.9:g.71904713C>A, NG_015863.1:g.9112C>A

Select item 14904164414.

rs1490416441 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:72187960 (GRCh38)
11:71899004 (GRCh37)
Canonical SPDI:: NC_000011.10:72187959:G:A
Gene:: FOLR1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000011.10:g.72187960G>A, NC_000011.9:g.71899004G>A, NG_015863.1:g.3403G>A

Select item 14903849965.

rs1490384996 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 11:72190042 (GRCh38)
11:71901086 (GRCh37)
Canonical SPDI:: NC_000011.10:72190041:T:A
Gene:: FOLR1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.72190042T>A, NC_000011.9:g.71901086T>A, NG_015863.1:g.5485T>A

Select item 14902369916.

rs1490236991 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 11:72195557 (GRCh38)
11:71906601 (GRCh37)
Canonical SPDI:: NC_000011.10:72195556:C:A
Gene:: FOLR1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000019/5 (TOPMED)
HGVS:: NC_000011.10:g.72195557C>A, NC_000011.9:g.71906601C>A, NG_015863.1:g.11000C>A

Select item 14897978497.

rs1489797849 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 11:72194066 (GRCh38)
11:71905111 (GRCh37)
Canonical SPDI:: NC_000011.10:72194066:T:TT
Gene:: FOLR1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TT=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.72194067dup, NC_000011.9:g.71905111dup, NG_015863.1:g.9510dup

Select item 14895014468.

rs1489501446 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:72191569 (GRCh38)
11:71902613 (GRCh37)
Canonical SPDI:: NC_000011.10:72191568:C:T
Gene:: FOLR1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.72191569C>T, NC_000011.9:g.71902613C>T, NG_015863.1:g.7012C>T

Select item 14886647889.

rs1488664788 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:72195411 (GRCh38)
11:71906455 (GRCh37)
Canonical SPDI:: NC_000011.10:72195410:C:T
Gene:: FOLR1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Clinical significance:: likely-benign
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.72195411C>T, NC_000011.9:g.71906455C>T, NG_015863.1:g.10854C>T, NM_016724.3:c.309C>T, NM_016724.2:c.309C>T, NM_016725.3:c.309C>T, NM_016725.2:c.309C>T, NM_000802.3:c.309C>T, NM_016729.3:c.309C>T, NM_016729.2:c.309C>T, NM_016731.2:c.309C>T, NM_016730.1:c.309C>T, NM_016731.1:c.309C>T

Select item 148846052010.

rs1488460520 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:72192321 (GRCh38)
11:71903365 (GRCh37)
Canonical SPDI:: NC_000011.10:72192320:G:A
Gene:: FOLR1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000028/1 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.72192321G>A, NC_000011.9:g.71903365G>A, NG_015863.1:g.7764G>A, NM_016724.3:c.148G>A, NM_016724.2:c.148G>A, NM_016725.3:c.148G>A, NM_016725.2:c.148G>A, NM_000802.3:c.148G>A, NM_016729.3:c.148G>A, NM_016729.2:c.148G>A, NM_016731.2:c.148G>A, NM_016730.1:c.148G>A, NM_016731.1:c.148G>A, NP_057936.1:p.Glu50Lys, NP_057937.1:p.Glu50Lys, NP_000793.1:p.Glu50Lys, NP_057941.1:p.Glu50Lys

Select item 148811104311.

rs1488111043 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:72188374 (GRCh38)
11:71899418 (GRCh37)
Canonical SPDI:: NC_000011.10:72188373:A:G
Gene:: FOLR1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000029/4 (GnomAD)
G=0.000042/11 (TOPMED)
HGVS:: NC_000011.10:g.72188374A>G, NC_000011.9:g.71899418A>G, NG_015863.1:g.3817A>G

Select item 148659839812.

rs1486598398 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 11:72189461 (GRCh38)
11:71900505 (GRCh37)
Canonical SPDI:: NC_000011.10:72189460:T:G
Gene:: FOLR1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.72189461T>G, NC_000011.9:g.71900505T>G, NG_015863.1:g.4904T>G

Select item 148657016313.

rs1486570163 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:72190116 (GRCh38)
11:71901160 (GRCh37)
Canonical SPDI:: NC_000011.10:72190115:G:A
Gene:: FOLR1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.00016/1 (1000Genomes)
HGVS:: NC_000011.10:g.72190116G>A, NC_000011.9:g.71901160G>A, NG_015863.1:g.5559G>A

Select item 148590510514.

rs1485905105 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:72194213 (GRCh38)
11:71905257 (GRCh37)
Canonical SPDI:: NC_000011.10:72194212:A:G
Gene:: FOLR1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000029/4 (GnomAD)
G=0.00003/8 (TOPMED)
HGVS:: NC_000011.10:g.72194213A>G, NC_000011.9:g.71905257A>G, NG_015863.1:g.9656A>G

Select item 148541732515.

rs1485417325 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 11:72193326 (GRCh38)
11:71904370 (GRCh37)
Canonical SPDI:: NC_000011.10:72193325:AAAA:AAA
Gene:: FOLR1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AAA=0.00008/1 (ALFA)
HGVS:: NC_000011.10:g.72193329del, NC_000011.9:g.71904373del, NG_015863.1:g.8772del

Select item 148524206616.

rs1485242066 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:72195111 (GRCh38)
11:71906155 (GRCh37)
Canonical SPDI:: NC_000011.10:72195110:G:A
Gene:: FOLR1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.72195111G>A, NC_000011.9:g.71906155G>A, NG_015863.1:g.10554G>A

Select item 148507692317.

rs1485076923 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 11:72188003 (GRCh38)
11:71899047 (GRCh37)
Canonical SPDI:: NC_000011.10:72188002:A:C
Gene:: FOLR1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0.000084/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.72188003A>C, NC_000011.9:g.71899047A>C, NG_015863.1:g.3446A>C

Select item 148439474418.

rs1484394744 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 11:72196521 (GRCh38)
11:71907565 (GRCh37)
Canonical SPDI:: NC_000011.10:72196520:TTT:TT
Gene:: FOLR1 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.72196523del, NC_000011.9:g.71907567del, NG_015863.1:g.11966del

Select item 148414102019.

rs1484141020 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:72190808 (GRCh38)
11:71901852 (GRCh37)
Canonical SPDI:: NC_000011.10:72190807:C:T
Gene:: FOLR1 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000043/6 (GnomAD)
T=0.000053/14 (TOPMED)
HGVS:: NC_000011.10:g.72190808C>T, NC_000011.9:g.71901852C>T, NG_015863.1:g.6251C>T

Select item 148405211220.

rs1484052112 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 11:72188273 (GRCh38)
11:71899317 (GRCh37)
Canonical SPDI:: NC_000011.10:72188272:A:T
Gene:: FOLR1 (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_000011.10:g.72188273A>T, NC_000011.9:g.71899317A>T, NG_015863.1:g.3716A>T

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