SNP Links for Gene (Select 85480) - SNP

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Select item 14910874871.

rs1491087487 has merged into rs35180980 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTT>-,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 5:111074637 (GRCh38)
5:110410335 (GRCh37)
Canonical SPDI:: NC_000005.10:111074627:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000005.10:111074627:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000005.10:111074627:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000005.10:111074627:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000005.10:111074627:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000005.10:111074627:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000005.10:111074627:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000005.10:111074627:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000005.10:111074627:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000005.10:111074627:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:111074627:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:111074627:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:111074627:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:111074627:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:111074627:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:111074627:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: TSLP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0./0 (ALFA)
T=0.0809/405 (1000Genomes)
HGVS:: NC_000005.10:g.111074637_111074648del, NC_000005.10:g.111074640_111074648del, NC_000005.10:g.111074642_111074648del, NC_000005.10:g.111074643_111074648del, NC_000005.10:g.111074644_111074648del, NC_000005.10:g.111074645_111074648del, NC_000005.10:g.111074646_111074648del, NC_000005.10:g.111074647_111074648del, NC_000005.10:g.111074648del, NC_000005.10:g.111074648dup, NC_000005.10:g.111074647_111074648dup, NC_000005.10:g.111074646_111074648dup, NC_000005.10:g.111074645_111074648dup, NC_000005.10:g.111074644_111074648dup, NC_000005.10:g.111074643_111074648dup, NC_000005.10:g.111074648_111074649insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.110410335_110410346del, NC_000005.9:g.110410338_110410346del, NC_000005.9:g.110410340_110410346del, NC_000005.9:g.110410341_110410346del, NC_000005.9:g.110410342_110410346del, NC_000005.9:g.110410343_110410346del, NC_000005.9:g.110410344_110410346del, NC_000005.9:g.110410345_110410346del, NC_000005.9:g.110410346del, NC_000005.9:g.110410346dup, NC_000005.9:g.110410345_110410346dup, NC_000005.9:g.110410344_110410346dup, NC_000005.9:g.110410343_110410346dup, NC_000005.9:g.110410342_110410346dup, NC_000005.9:g.110410341_110410346dup, NC_000005.9:g.110410346_110410347insTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14908884402.

rs1490888440 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:111075885 (GRCh38)
5:110411583 (GRCh37)
Canonical SPDI:: NC_000005.10:111075884:T:C
Gene:: TSLP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000005.10:g.111075885T>C, NC_000005.9:g.110411583T>C

Select item 14906518613.

rs1490651861 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 5:111070705 (GRCh38)
5:110406403 (GRCh37)
Canonical SPDI:: NC_000005.10:111070704:G:
Gene:: TSLP (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.111070705del, NC_000005.9:g.110406403del, NR_045089.2:n.644del, NR_045089.1:n.626del

Select item 14902728564.

rs1490272856 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTAA>- [Show Flanks]
Chromosome:: 5:111069187 (GRCh38)
5:110404885 (GRCh37)
Canonical SPDI:: NC_000005.10:111069183:TAAGTAA:TAA
Gene:: TSLP (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: TAA=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.111069187_111069190del, NC_000005.9:g.110404885_110404888del

Select item 14901239615.

rs1490123961 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 5:111072087 (GRCh38)
5:110407785 (GRCh37)
Canonical SPDI:: NC_000005.10:111072086:AAA:AA
Gene:: TSLP (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: AA=0.000111/1 (ALFA)
-=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.111072089del, NC_000005.9:g.110407787del

Select item 14900694326.

rs1490069432 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:111075503 (GRCh38)
5:110411201 (GRCh37)
Canonical SPDI:: NC_000005.10:111075502:T:C
Gene:: TSLP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000015/4 (TOPMED)
HGVS:: NC_000005.10:g.111075503T>C, NC_000005.9:g.110411201T>C

Select item 14899625097.

rs1489962509 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:111076411 (GRCh38)
5:110412109 (GRCh37)
Canonical SPDI:: NC_000005.10:111076410:A:G
Gene:: TSLP (Varview)
Functional Consequence:: 3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.111076411A>G, NC_000005.9:g.110412109A>G, NM_033035.5:c.*337A>G, NM_033035.4:c.*337A>G, NM_138551.5:c.*337A>G, NM_138551.4:c.*337A>G, NR_045089.2:n.2239A>G, NR_045089.1:n.2221A>G, XM_011543698.2:c.*337A>G, XM_011543698.1:c.*337A>G, XM_047417847.1:c.*337A>G, XM_047417846.1:c.*337A>G, NR_033425.1:n.798A>G

Select item 14898352318.

rs1489835231 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 5:111070401 (GRCh38)
5:110406099 (GRCh37)
Canonical SPDI:: NC_000005.10:111070400:C:A,NC_000005.10:111070400:C:G
Gene:: TSLP (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,5_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.111070401C>A, NC_000005.10:g.111070401C>G, NC_000005.9:g.110406099C>A, NC_000005.9:g.110406099C>G, NR_045089.2:n.340C>A, NR_045089.2:n.340C>G, NR_045089.1:n.322C>A, NR_045089.1:n.322C>G, XM_047417847.1:c.-148C>A, XM_047417847.1:c.-148C>G

Select item 14894745969.

rs1489474596 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 5:111075609 (GRCh38)
5:110411307 (GRCh37)
Canonical SPDI:: NC_000005.10:111075608:G:C
Gene:: TSLP (Varview)
Functional Consequence:: 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_000005.10:g.111075609G>C, NC_000005.9:g.110411307G>C

Select item 148918868810.

rs1489188688 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 5:111078368 (GRCh38)
5:110414066 (GRCh37)
Canonical SPDI:: NC_000005.10:111078367:C:A,NC_000005.10:111078367:C:G
Gene:: TSLP (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
G=0.00006/1 (TOMMO)
HGVS:: NC_000005.10:g.111078368C>A, NC_000005.10:g.111078368C>G, NC_000005.9:g.110414066C>A, NC_000005.9:g.110414066C>G

Select item 148902180111.

rs1489021801 [Homo sapiens]

Variant type:: DELINS
Alleles:: AATGAACTGCTATAAAACA>- [Show Flanks]
Chromosome:: 5:111069100 (GRCh38)
5:110404798 (GRCh37)
Canonical SPDI:: NC_000005.10:111069095:AACAAATGAACTGCTATAAAACA:AACA
Gene:: TSLP (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AACA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.111069100_111069118del, NC_000005.9:g.110404798_110404816del

Select item 148876387612.

rs1488763876 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 5:111075208 (GRCh38)
5:110410906 (GRCh37)
Canonical SPDI:: NC_000005.10:111075207:A:C
Gene:: TSLP (Varview)
Functional Consequence:: 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_000005.10:g.111075208A>C, NC_000005.9:g.110410906A>C

Select item 148828767713.

rs1488287677 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:111071585 (GRCh38)
5:110407283 (GRCh37)
Canonical SPDI:: NC_000005.10:111071584:T:C
Gene:: TSLP (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
C=0.000071/1 (TOMMO)
HGVS:: NC_000005.10:g.111071585T>C, NC_000005.9:g.110407283T>C

Select item 148807754114.

rs1488077541 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 5:111073856 (GRCh38)
5:110409554 (GRCh37)
Canonical SPDI:: NC_000005.10:111073855:C:G,NC_000005.10:111073855:C:T
Gene:: TSLP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.111073856C>G, NC_000005.10:g.111073856C>T, NC_000005.9:g.110409554C>G, NC_000005.9:g.110409554C>T

Select item 148799204515.

rs1487992045 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TCGC [Show Flanks]
Chromosome:: 5:111073567 (GRCh38)
5:110409266 (GRCh37)
Canonical SPDI:: NC_000005.10:111073567:TCGCTCGC:TCGCTCGCTCGC
Gene:: TSLP (Varview)
Functional Consequence:: 5_prime_UTR_variant,frameshift_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: TCGCTCGCTCGC=0./0 (ALFA)
TCGC=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.111073568TCGC[3], NC_000005.9:g.110409266TCGC[3], NM_033035.5:c.278_281dup, NM_033035.4:c.278_281dup, NM_138551.5:c.-15TCGC[3], NM_138551.4:c.-15TCGC[3], NR_045089.2:n.1696TCGC[3], NR_045089.1:n.1678TCGC[3], XM_011543698.2:c.-15TCGC[3], XM_011543698.1:c.-15TCGC[3], XM_047417847.1:c.116_119dup, XM_047417846.1:c.248_251dup, NR_033425.1:n.255TCGC[3], NP_149024.1:p.Lys95fs, XP_047273803.1:p.Lys41fs, XP_047273802.1:p.Lys85fs

Select item 148782460016.

rs1487824600 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 5:111077270 (GRCh38)
5:110412968 (GRCh37)
Canonical SPDI:: NC_000005.10:111077269:G:C
Gene:: TSLP (Varview)
Functional Consequence:: 3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000023/6 (TOPMED)
HGVS:: NC_000005.10:g.111077270G>C, NC_000005.9:g.110412968G>C, NM_033035.5:c.*1196G>C, NM_033035.4:c.*1196G>C, NM_138551.5:c.*1196G>C, NM_138551.4:c.*1196G>C, NR_045089.2:n.3098G>C, NR_045089.1:n.3080G>C, XM_011543698.2:c.*1196G>C, XM_047417847.1:c.*1196G>C, XM_047417846.1:c.*1196G>C, NR_033425.1:n.1657G>C

Select item 148765162717.

rs1487651627 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 5:111076894 (GRCh38)
5:110412592 (GRCh37)
Canonical SPDI:: NC_000005.10:111076893:G:C
Gene:: TSLP (Varview)
Functional Consequence:: 3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000447/2 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000446/2 (Estonian)
HGVS:: NC_000005.10:g.111076894G>C, NC_000005.9:g.110412592G>C, NM_033035.5:c.*820G>C, NM_033035.4:c.*820G>C, NM_138551.5:c.*820G>C, NM_138551.4:c.*820G>C, NR_045089.2:n.2722G>C, NR_045089.1:n.2704G>C, XM_011543698.2:c.*820G>C, XM_047417847.1:c.*820G>C, XM_047417846.1:c.*820G>C, NR_033425.1:n.1281G>C

Select item 148727266118.

rs1487272661 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 5:111076060 (GRCh38)
5:110411758 (GRCh37)
Canonical SPDI:: NC_000005.10:111076059:C:A,NC_000005.10:111076059:C:T
Gene:: TSLP (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0./0 (GnomAD)
T=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.111076060C>A, NC_000005.10:g.111076060C>T, NC_000005.9:g.110411758C>A, NC_000005.9:g.110411758C>T, NM_033035.5:c.466C>A, NM_033035.5:c.466C>T, NM_033035.4:c.466C>A, NM_033035.4:c.466C>T, NM_138551.5:c.178C>A, NM_138551.5:c.178C>T, NM_138551.4:c.178C>A, NM_138551.4:c.178C>T, NR_045089.2:n.1888C>A, NR_045089.2:n.1888C>T, NR_045089.1:n.1870C>A, NR_045089.1:n.1870C>T, XM_011543698.2:c.178C>A, XM_011543698.2:c.178C>T, XM_011543698.1:c.178C>A, XM_011543698.1:c.178C>T, XM_047417847.1:c.304C>A, XM_047417847.1:c.304C>T, XM_047417846.1:c.436C>A, XM_047417846.1:c.436C>T, NR_033425.1:n.447C>A, NR_033425.1:n.447C>T, NP_149024.1:p.Leu156Met, NP_612561.2:p.Leu60Met, XP_011542000.1:p.Leu60Met, XP_047273803.1:p.Leu102Met, XP_047273802.1:p.Leu146Met

Select item 148716759419.

rs1487167594 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 5:111076493 (GRCh38)
5:110412191 (GRCh37)
Canonical SPDI:: NC_000005.10:111076492:C:A
Gene:: TSLP (Varview)
Functional Consequence:: 3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.111076493C>A, NC_000005.9:g.110412191C>A, NM_033035.5:c.*419C>A, NM_033035.4:c.*419C>A, NM_138551.5:c.*419C>A, NM_138551.4:c.*419C>A, NR_045089.2:n.2321C>A, NR_045089.1:n.2303C>A, XM_011543698.2:c.*419C>A, XM_011543698.1:c.*419C>A, XM_047417847.1:c.*419C>A, XM_047417846.1:c.*419C>A, NR_033425.1:n.880C>A

Select item 148689641020.

rs1486896410 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 5:111069223 (GRCh38)
5:110404921 (GRCh37)
Canonical SPDI:: NC_000005.10:111069222:G:C
Gene:: TSLP (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=0.000014/2 (GnomAD)
HGVS:: NC_000005.10:g.111069223G>C, NC_000005.9:g.110404921G>C

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