SNP Links for Gene (Select 7013) - SNP

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Select item 14915830881.

rs1491583088 has merged into rs1196050773 [Homo sapiens]

Variant type:: DELINS
Alleles:: TATA>-,TA,TATATA [Show Flanks]
Chromosome:: 8:73037714 (GRCh38)
8:73949949 (GRCh37)
Canonical SPDI:: NC_000008.11:73037709:TATATATA:TATA,NC_000008.11:73037709:TATATATA:TATATA,NC_000008.11:73037709:TATATATA:TATATATATA
Gene:: TERF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATA=0./0 (ALFA)
HGVS:: NC_000008.11:g.73037710TA[2], NC_000008.11:g.73037710TA[3], NC_000008.11:g.73037710TA[5], NC_000008.10:g.73949945TA[2], NC_000008.10:g.73949945TA[3], NC_000008.10:g.73949945TA[5], NG_029121.1:g.33849TA[2], NG_029121.1:g.33849TA[3], NG_029121.1:g.33849TA[5]

Select item 14915739722.

rs1491573972 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 8:73037710 (GRCh38)
8:73949946 (GRCh37)
Canonical SPDI:: NC_000008.11:73037710:A:AA
Gene:: TERF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: A=0.00002/1 (GnomAD)
HGVS:: NC_000008.11:g.73037711dup, NC_000008.10:g.73949946dup, NG_029121.1:g.33850dup

Select item 14915636433.

rs1491563643 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: 8:73037769 (GRCh38)
8:73950004 (GRCh37)
Canonical SPDI:: NC_000008.11:73037768:AA:
Gene:: TERF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.00004/1 (TOMMO)
-=0.00004/2 (GnomAD)
HGVS:: NC_000008.11:g.73037769_73037770del, NC_000008.10:g.73950004_73950005del, NG_029121.1:g.33908_33909del

Select item 14915301684.

rs1491530168 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TATATAT [Show Flanks]
Chromosome:: 8:73037836 (GRCh38)
8:73950072 (GRCh37)
Canonical SPDI:: NC_000008.11:73037836:TATATAT:TATATATTATATAT
Gene:: TERF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: TATATAT=0.00124/103 (GnomAD)
TATATAT=0.00169/1 (NorthernSweden)
HGVS:: NC_000008.11:g.73037837_73037843dup, NC_000008.10:g.73950072_73950078dup, NG_029121.1:g.33976_33982dup

Select item 14915203735.

rs1491520373 has merged into rs1326872149 [Homo sapiens]

Variant type:: DELINS
Alleles:: TATA>-,TA,TATATA [Show Flanks]
Chromosome:: 8:73037877 (GRCh38)
8:73950112 (GRCh37)
Canonical SPDI:: NC_000008.11:73037871:ATATATATA:ATATA,NC_000008.11:73037871:ATATATATA:ATATATA,NC_000008.11:73037871:ATATATATA:ATATATATATA
Gene:: TERF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATATA=0./0 (ALFA)
AT=0.0005/8 (TOMMO)
AT=0.00167/1 (NorthernSweden)
AT=0.00229/4 (Korea1K)
HGVS:: NC_000008.11:g.73037873TA[2], NC_000008.11:g.73037873TA[3], NC_000008.11:g.73037873TA[5], NC_000008.10:g.73950108TA[2], NC_000008.10:g.73950108TA[3], NC_000008.10:g.73950108TA[5], NG_029121.1:g.34012TA[2], NG_029121.1:g.34012TA[3], NG_029121.1:g.34012TA[5]

Select item 14914242336.

rs1491424233 [Homo sapiens]

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

Select item 14914233717.

rs1491423371 has merged into rs1472814428 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATATAT>-,AT,ATAT,ATATATAT [Show Flanks]
Chromosome:: 8:73037774 (GRCh38)
8:73950009 (GRCh37)
Canonical SPDI:: NC_000008.11:73037769:ATATATATAT:ATAT,NC_000008.11:73037769:ATATATATAT:ATATAT,NC_000008.11:73037769:ATATATATAT:ATATATAT,NC_000008.11:73037769:ATATATATAT:ATATATATATAT
Gene:: TERF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATAT=0./0 (ALFA)
HGVS:: NC_000008.11:g.73037770AT[2], NC_000008.11:g.73037770AT[3], NC_000008.11:g.73037770AT[4], NC_000008.11:g.73037770AT[6], NC_000008.10:g.73950005AT[2], NC_000008.10:g.73950005AT[3], NC_000008.10:g.73950005AT[4], NC_000008.10:g.73950005AT[6], NG_029121.1:g.33909AT[2], NG_029121.1:g.33909AT[3], NG_029121.1:g.33909AT[4], NG_029121.1:g.33909AT[6]

Select item 14913832538.

rs1491383253 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: 8:73037657 (GRCh38)
8:73949892 (GRCh37)
Canonical SPDI:: NC_000008.11:73037655:TGT:T
Gene:: TERF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000008.11:g.73037657_73037658del, NC_000008.10:g.73949892_73949893del, NG_029121.1:g.33796_33797del

Select item 14913357959.

rs1491335795 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 8:73025754 (GRCh38)
8:73937989 (GRCh37)
Canonical SPDI:: NC_000008.11:73025753:CA:
Gene:: TERF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000008.11:g.73025754_73025755del, NC_000008.10:g.73937989_73937990del, NG_029121.1:g.21893_21894del

Select item 149130962010.

rs1491309620 has merged into rs35028162 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAAAA>-,A,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 8:73025763 (GRCh38)
8:73937998 (GRCh37)
Canonical SPDI:: NC_000008.11:73025754:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000008.11:73025754:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000008.11:73025754:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000008.11:73025754:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000008.11:73025754:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000008.11:73025754:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000008.11:73025754:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000008.11:73025754:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000008.11:73025754:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000008.11:73025754:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000008.11:73025754:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000008.11:73025754:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:73025754:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:73025754:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:73025754:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:73025754:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:73025754:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:73025754:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:73025754:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:73025754:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: TERF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAA=0./0 (ALFA)
HGVS:: NC_000008.11:g.73025763_73025780del, NC_000008.11:g.73025764_73025780del, NC_000008.11:g.73025767_73025780del, NC_000008.11:g.73025769_73025780del, NC_000008.11:g.73025770_73025780del, NC_000008.11:g.73025771_73025780del, NC_000008.11:g.73025772_73025780del, NC_000008.11:g.73025773_73025780del, NC_000008.11:g.73025774_73025780del, NC_000008.11:g.73025775_73025780del, NC_000008.11:g.73025776_73025780del, NC_000008.11:g.73025778_73025780del, NC_000008.11:g.73025779_73025780del, NC_000008.11:g.73025780del, NC_000008.11:g.73025780dup, NC_000008.11:g.73025779_73025780dup, NC_000008.11:g.73025778_73025780dup, NC_000008.11:g.73025777_73025780dup, NC_000008.11:g.73025776_73025780dup, NC_000008.11:g.73025774_73025780dup, NC_000008.10:g.73937998_73938015del, NC_000008.10:g.73937999_73938015del, NC_000008.10:g.73938002_73938015del, NC_000008.10:g.73938004_73938015del, NC_000008.10:g.73938005_73938015del, NC_000008.10:g.73938006_73938015del, NC_000008.10:g.73938007_73938015del, NC_000008.10:g.73938008_73938015del, NC_000008.10:g.73938009_73938015del, NC_000008.10:g.73938010_73938015del, NC_000008.10:g.73938011_73938015del, NC_000008.10:g.73938013_73938015del, NC_000008.10:g.73938014_73938015del, NC_000008.10:g.73938015del, NC_000008.10:g.73938015dup, NC_000008.10:g.73938014_73938015dup, NC_000008.10:g.73938013_73938015dup, NC_000008.10:g.73938012_73938015dup, NC_000008.10:g.73938011_73938015dup, NC_000008.10:g.73938009_73938015dup, NG_029121.1:g.21902_21919del, NG_029121.1:g.21903_21919del, NG_029121.1:g.21906_21919del, NG_029121.1:g.21908_21919del, NG_029121.1:g.21909_21919del, NG_029121.1:g.21910_21919del, NG_029121.1:g.21911_21919del, NG_029121.1:g.21912_21919del, NG_029121.1:g.21913_21919del, NG_029121.1:g.21914_21919del, NG_029121.1:g.21915_21919del, NG_029121.1:g.21917_21919del, NG_029121.1:g.21918_21919del, NG_029121.1:g.21919del, NG_029121.1:g.21919dup, NG_029121.1:g.21918_21919dup, NG_029121.1:g.21917_21919dup, NG_029121.1:g.21916_21919dup, NG_029121.1:g.21915_21919dup, NG_029121.1:g.21913_21919dup

Select item 149128474711.

rs1491284747 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: 8:73037871 (GRCh38)
8:73950106 (GRCh37)
Canonical SPDI:: NC_000008.11:73037870:AA:
Gene:: TERF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000008.11:g.73037871_73037872del, NC_000008.10:g.73950106_73950107del, NG_029121.1:g.34010_34011del

Select item 149098095512.

rs1490980955 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 8:73044946 (GRCh38)
8:73957181 (GRCh37)
Canonical SPDI:: NC_000008.11:73044945:A:C,NC_000008.11:73044945:A:T
Gene:: TERF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
C=0.000023/6 (TOPMED)
HGVS:: NC_000008.11:g.73044946A>C, NC_000008.11:g.73044946A>T, NC_000008.10:g.73957181A>C, NC_000008.10:g.73957181A>T, NG_029121.1:g.41085A>C, NG_029121.1:g.41085A>T

Select item 149078905313.

rs1490789053 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:73023427 (GRCh38)
8:73935662 (GRCh37)
Canonical SPDI:: NC_000008.11:73023426:T:C
Gene:: TERF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000008.11:g.73023427T>C, NC_000008.10:g.73935662T>C, NG_029121.1:g.19566T>C

Select item 149075888214.

rs1490758882 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:73022572 (GRCh38)
8:73934807 (GRCh37)
Canonical SPDI:: NC_000008.11:73022571:A:G
Gene:: TERF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.73022572A>G, NC_000008.10:g.73934807A>G, NG_029121.1:g.18711A>G

Select item 149072090815.

rs1490720908 [Homo sapiens]

Variant type:: DEL
Alleles:: GAATAC>- [Show Flanks]
Chromosome:: 8:73007703 (GRCh38)
8:73919938 (GRCh37)
Canonical SPDI:: NC_000008.11:73007702:GAATAC:
Gene:: TERF1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.73007703_73007708del, NC_000008.10:g.73919938_73919943del, NG_029121.1:g.3842_3847del

Select item 149067194616.

rs1490671946 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 8:73037376 (GRCh38)
8:73949611 (GRCh37)
Canonical SPDI:: NC_000008.11:73037375:C:G
Gene:: TERF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.73037376C>G, NC_000008.10:g.73949611C>G, NG_029121.1:g.33515C>G

Select item 149059347617.

rs1490593476 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 8:73022040 (GRCh38)
8:73934275 (GRCh37)
Canonical SPDI:: NC_000008.11:73022039:C:A,NC_000008.11:73022039:C:T
Gene:: TERF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000021/3 (GnomAD)
HGVS:: NC_000008.11:g.73022040C>A, NC_000008.11:g.73022040C>T, NC_000008.10:g.73934275C>A, NC_000008.10:g.73934275C>T, NG_029121.1:g.18179C>A, NG_029121.1:g.18179C>T

Select item 149058620018.

rs1490586200 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:73008344 (GRCh38)
8:73920579 (GRCh37)
Canonical SPDI:: NC_000008.11:73008343:A:G
Gene:: TERF1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.73008344A>G, NC_000008.10:g.73920579A>G, NG_029121.1:g.4483A>G

Select item 149055838519.

rs1490558385 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:73007300 (GRCh38)
8:73919535 (GRCh37)
Canonical SPDI:: NC_000008.11:73007299:A:G
Gene:: TERF1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0.000169/2 (ALFA)
G=0.000015/2 (GnomAD)
HGVS:: NC_000008.11:g.73007300A>G, NC_000008.10:g.73919535A>G, NG_029121.1:g.3439A>G

Select item 149052740720.

rs1490527407 [Homo sapiens]

Variant type:: DELINS
Alleles:: TGCTA>- [Show Flanks]
Chromosome:: 8:73040492 (GRCh38)
8:73952727 (GRCh37)
Canonical SPDI:: NC_000008.11:73040490:ATGCTA:A
Gene:: TERF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.73040492_73040496del, NC_000008.10:g.73952727_73952731del, NG_029121.1:g.36631_36635del

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