SNP Links for Gene (Select 100132911) - SNP

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Select item 14908358871.

rs1490835887 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 20:62845571 (GRCh38)
20:61476923 (GRCh37)
Canonical SPDI:: NC_000020.11:62845570:A:C
Gene:: TCFL5 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000020.11:g.62845571A>C, NC_000020.10:g.61476923A>C, NG_070886.1:g.75A>C, NM_080750.4:c.-93A>C, NM_080750.3:c.-93A>C

Select item 14907802972.

rs1490780297 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 20:62844601 (GRCh38)
20:61475953 (GRCh37)
Canonical SPDI:: NC_000020.11:62844600:C:G,NC_000020.11:62844600:C:T
Gene:: TCFL5 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000046/6 (GnomAD)
T=0.000156/1 (1000Genomes)
HGVS:: NC_000020.11:g.62844601C>G, NC_000020.11:g.62844601C>T, NC_000020.10:g.61475953C>G, NC_000020.10:g.61475953C>T, NM_080750.4:c.-1063C>G, NM_080750.4:c.-1063C>T

Select item 14903450993.

rs1490345099 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:62845163 (GRCh38)
20:61476515 (GRCh37)
Canonical SPDI:: NC_000020.11:62845162:C:T
Gene:: TCFL5 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000020.11:g.62845163C>T, NC_000020.10:g.61476515C>T, NM_080750.4:c.-501C>T, NM_080750.3:c.-501C>T

Select item 14902876314.

rs1490287631 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 20:62844514 (GRCh38)
20:61475866 (GRCh37)
Canonical SPDI:: NC_000020.11:62844513:G:C
Gene:: TCFL5 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000020.11:g.62844514G>C, NC_000020.10:g.61475866G>C

Select item 14888386825.

rs1488838682 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:62843690 (GRCh38)
20:61475042 (GRCh37)
Canonical SPDI:: NC_000020.11:62843689:G:A
Gene:: TCFL5 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000015/4 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000020.11:g.62843690G>A, NC_000020.10:g.61475042G>A

Select item 14882974196.

rs1488297419 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 20:62843768 (GRCh38)
20:61475120 (GRCh37)
Canonical SPDI:: NC_000020.11:62843767:C:A
Gene:: TCFL5 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,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_000020.11:g.62843768C>A, NC_000020.10:g.61475120C>A

Select item 14878307227.

rs1487830722 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:62843442 (GRCh38)
20:61474794 (GRCh37)
Canonical SPDI:: NC_000020.11:62843441:G:A
Gene:: TCFL5 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000020.11:g.62843442G>A, NC_000020.10:g.61474794G>A

Select item 14874499548.

rs1487449954 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:62843144 (GRCh38)
20:61474496 (GRCh37)
Canonical SPDI:: NC_000020.11:62843143:G:A
Gene:: TCFL5 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_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_000020.11:g.62843144G>A, NC_000020.10:g.61474496G>A, NG_016353.1:g.31083G>A

Select item 14873028109.

rs1487302810 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 20:62846620 (GRCh38)
20:61477972 (GRCh37)
Canonical SPDI:: NC_000020.11:62846619:G:A,NC_000020.11:62846619:G:T
Gene:: TCFL5 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.00004/1 (TOMMO)
HGVS:: NC_000020.11:g.62846620G>A, NC_000020.11:g.62846620G>T, NC_000020.10:g.61477972G>A, NC_000020.10:g.61477972G>T

Select item 148674070710.

rs1486740707 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:62843234 (GRCh38)
20:61474586 (GRCh37)
Canonical SPDI:: NC_000020.11:62843233:G:A
Gene:: TCFL5 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,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_000020.11:g.62843234G>A, NC_000020.10:g.61474586G>A

Select item 148462155711.

rs1484621557 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:62844953 (GRCh38)
20:61476305 (GRCh37)
Canonical SPDI:: NC_000020.11:62844952:G:A
Gene:: TCFL5 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000020.11:g.62844953G>A, NC_000020.10:g.61476305G>A, NM_080750.4:c.-711G>A

Select item 148454729112.

rs1484547291 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TGTG [Show Flanks]
Chromosome:: 20:62843843 (GRCh38)
20:61475196 (GRCh37)
Canonical SPDI:: NC_000020.11:62843843:GTGTG:GTGTGTGTG
Gene:: TCFL5 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGTGTGTG=0./0 (ALFA)
GTGT=0.000007/1 (GnomAD)
GTGT=0.000019/5 (TOPMED)
HGVS:: NC_000020.11:g.62843845TG[4], NC_000020.10:g.61475197TG[4]

Select item 148449442213.

rs1484494422 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 20:62844571 (GRCh38)
20:61475923 (GRCh37)
Canonical SPDI:: NC_000020.11:62844570:G:
Gene:: TCFL5 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000020.11:g.62844571del, NC_000020.10:g.61475923del, NM_080750.4:c.-1093del

Select item 148308556014.

rs1483085560 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 20:62843540 (GRCh38)
20:61474892 (GRCh37)
Canonical SPDI:: NC_000020.11:62843539:G:C
Gene:: TCFL5 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.62843540G>C, NC_000020.10:g.61474892G>C

Select item 148270307615.

rs1482703076 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 20:62845332 (GRCh38)
20:61476684 (GRCh37)
Canonical SPDI:: NC_000020.11:62845331:A:C
Gene:: TCFL5 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.62845332A>C, NC_000020.10:g.61476684A>C, NM_080750.4:c.-332A>C, NM_080750.3:c.-332A>C

Select item 148129600116.

rs1481296001 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:62845617 (GRCh38)
20:61476969 (GRCh37)
Canonical SPDI:: NC_000020.11:62845616:G:A
Gene:: TCFL5 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.62845617G>A, NC_000020.10:g.61476969G>A, NG_070886.1:g.121G>A, NM_080750.5:c.-47G>A, NM_080750.4:c.-47G>A, NM_080750.3:c.-47G>A

Select item 148118541317.

rs1481185413 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:62844723 (GRCh38)
20:61476075 (GRCh37)
Canonical SPDI:: NC_000020.11:62844722:A:G
Gene:: TCFL5 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0.000084/1 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.62844723A>G, NC_000020.10:g.61476075A>G, NM_080750.4:c.-941A>G

Select item 148033647418.

rs1480336474 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:62842795 (GRCh38)
20:61474147 (GRCh37)
Canonical SPDI:: NC_000020.11:62842794:T:C
Gene:: TCFL5 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_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_000020.11:g.62842795T>C, NC_000020.10:g.61474147T>C, NG_016353.1:g.30734T>C

Select item 147998909219.

rs1479989092 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 20:62844768 (GRCh38)
20:61476121 (GRCh37)
Canonical SPDI:: NC_000020.11:62844768:TTTTTTT:TTTTTTTT
Gene:: TCFL5 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTT=0.000569/8 (ALFA)
T=0.000093/13 (GnomAD)
T=0.000102/27 (TOPMED)
T=0.000106/2 (TOMMO)
HGVS:: NC_000020.11:g.62844775dup, NC_000020.10:g.61476127dup, NM_080750.4:c.-889dup

Select item 147984347620.

rs1479843476 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 20:62846073 (GRCh38)
20:61477425 (GRCh37)
Canonical SPDI:: NC_000020.11:62846072:G:A,NC_000020.11:62846072:G:C
Gene:: TCFL5 (Varview)
Functional Consequence:: missense_variant,downstream_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,synonymous_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000006/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000020.11:g.62846073G>A, NC_000020.11:g.62846073G>C, NC_000020.10:g.61477425G>A, NC_000020.10:g.61477425G>C, NG_070886.1:g.577G>A, NG_070886.1:g.577G>C, NM_080750.5:c.*173G>A, NM_080750.5:c.*173G>C, XM_011528497.4:c.1422C>T, XM_011528497.4:c.1422C>G, XM_011528497.3:c.1422C>T, XM_011528497.3:c.1422C>G, XM_011528497.2:c.1422C>T, XM_011528497.2:c.1422C>G, XM_011528497.1:c.1422C>T, XM_011528497.1:c.1422C>G, NM_080750.4:c.*173G>A, NM_080750.4:c.*173G>C, NM_080750.3:c.*173G>A, NM_080750.3:c.*173G>C, XM_024451808.2:c.1425C>T, XM_024451808.2:c.1425C>G, XM_024451808.1:c.1425C>T, XM_024451808.1:c.1425C>G, XR_007067444.1:n.1200C>T, XR_007067444.1:n.1200C>G, XP_011526799.1:p.Phe474Leu, XP_024307576.1:p.Phe475Leu

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