SNP Links for Gene (Select 7015) - SNP

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Select item 14915729701.

rs1491572970 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,C,T [Show Flanks]
Chromosome:: 5:1277606 (GRCh38)
5:1277722 (GRCh37)
Canonical SPDI:: NC_000005.10:1277606::A,NC_000005.10:1277606::C,NC_000005.10:1277606::T
Gene:: TERT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.00015/2 (TOMMO)
HGVS:: NC_000005.10:g.1277606_1277607insA, NC_000005.10:g.1277606_1277607insC, NC_000005.10:g.1277606_1277607insT, NC_000005.9:g.1277721_1277722insA, NC_000005.9:g.1277721_1277722insC, NC_000005.9:g.1277721_1277722insT, NG_009265.1:g.22441_22442insT, NG_009265.1:g.22441_22442insG, NG_009265.1:g.22441_22442insA

Select item 14915495782.

rs1491549578 has merged into rs1458957648 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>-,GG [Show Flanks]
Chromosome:: 5:1277668 (GRCh38)
5:1277783 (GRCh37)
Canonical SPDI:: NC_000005.10:1277667:GGGGGGG:GGGGGG,NC_000005.10:1277667:GGGGGGG:GGGGGGGG
Gene:: TERT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGGGG=0./0 (ALFA)
HGVS:: NC_000005.10:g.1277674del, NC_000005.10:g.1277674dup, NC_000005.9:g.1277789del, NC_000005.9:g.1277789dup, NG_009265.1:g.22380del, NG_009265.1:g.22380dup

Select item 14914884433.

rs1491488443 [Homo sapiens]

Variant type:: DEL
Alleles:: GC>- [Show Flanks]
Chromosome:: 5:1289899 (GRCh38)
5:1290014 (GRCh37)
Canonical SPDI:: NC_000005.10:1289898:GC:
Gene:: TERT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: -=0.00004/1 (TOMMO)
HGVS:: NC_000005.10:g.1289899_1289900del, NC_000005.9:g.1290014_1290015del, NG_009265.1:g.10148_10149del

Select item 14914856574.

rs1491485657 has merged into rs35577391 [Homo sapiens]

Variant type:: DELINS
Alleles:: GGGGGGG>-,GGGGG,GGGGGG,GGGGGGGG,GGGGGGGGG,GGGGGGGGGG [Show Flanks]
Chromosome:: 5:1277608 (GRCh38)
5:1277723 (GRCh37)
Canonical SPDI:: NC_000005.10:1277605:GGGGGGGGG:GG,NC_000005.10:1277605:GGGGGGGGG:GGGGGGG,NC_000005.10:1277605:GGGGGGGGG:GGGGGGGG,NC_000005.10:1277605:GGGGGGGGG:GGGGGGGGGG,NC_000005.10:1277605:GGGGGGGGG:GGGGGGGGGGG,NC_000005.10:1277605:GGGGGGGGG:GGGGGGGGGGGG
Gene:: TERT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGGGGGGGG=0./0 (ALFA)
G=0.3257/1631 (1000Genomes)
HGVS:: NC_000005.10:g.1277608_1277614del, NC_000005.10:g.1277613_1277614del, NC_000005.10:g.1277614del, NC_000005.10:g.1277614dup, NC_000005.10:g.1277613_1277614dup, NC_000005.10:g.1277612_1277614dup, NC_000005.9:g.1277723_1277729del, NC_000005.9:g.1277728_1277729del, NC_000005.9:g.1277729del, NC_000005.9:g.1277729dup, NC_000005.9:g.1277728_1277729dup, NC_000005.9:g.1277727_1277729dup, NG_009265.1:g.22436_22442del, NG_009265.1:g.22441_22442del, NG_009265.1:g.22442del, NG_009265.1:g.22442dup, NG_009265.1:g.22441_22442dup, NG_009265.1:g.22440_22442dup

Select item 14914847265.

rs1491484726 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 5:1260610 (GRCh38)
5:1260726 (GRCh37)
Canonical SPDI:: NC_000005.10:1260610:GGGGGG:GGGGGGG
Gene:: TERT (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
HGVS:: NC_000005.10:g.1260616dup, NC_000005.9:g.1260731dup, NG_009265.1:g.39437dup

Select item 14914604486.

rs1491460448 [Homo sapiens]

Variant type:: DELINS
Alleles:: AC>- [Show Flanks]
Chromosome:: 5:1273134 (GRCh38)
5:1273249 (GRCh37)
Canonical SPDI:: NC_000005.10:1273132:CAC:C
Gene:: TERT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: -=0.00048/6 (TOMMO)
-=0.00064/20 (GnomAD)
HGVS:: NC_000005.10:g.1273134_1273135del, NC_000005.9:g.1273249_1273250del, NG_009265.1:g.26914_26915del

Select item 14914261367.

rs1491426136 [Homo sapiens]

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

Select item 14913161278.

rs1491316127 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 5:1268975 (GRCh38)
5:1269090 (GRCh37)
Canonical SPDI:: NC_000005.10:1268974:CT:
Gene:: TERT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: -=0./0 (TWINSUK)
-=0.0003/1 (ALSPAC)
HGVS:: NC_000005.10:g.1268975_1268976del, NC_000005.9:g.1269090_1269091del, NG_009265.1:g.31072_31073del

Select item 14912863829.

rs1491286382 [Homo sapiens]

Variant type:: INS
Alleles:: ->CGCGA,CGGGA,CGTG,CGTGA,T,TGTG,TGTGA [Show Flanks]
Chromosome:: 5:1273133 (GRCh38)
5:1273249 (GRCh37)
Canonical SPDI:: NC_000005.10:1273133::CGCGA,NC_000005.10:1273133::CGGGA,NC_000005.10:1273133::CGTG,NC_000005.10:1273133::CGTGA,NC_000005.10:1273133::T,NC_000005.10:1273133::TGTG,NC_000005.10:1273133::TGTGA
Gene:: TERT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CGGGA=0./0 (ALFA)
TGTG=0.00044/11 (GnomAD)
CGTG=0.01709/8 (NorthernSweden)
HGVS:: NC_000005.10:g.1273133_1273134insCGCGA, NC_000005.10:g.1273133_1273134insCGGGA, NC_000005.10:g.1273133_1273134insCGTG, NC_000005.10:g.1273133_1273134insCGTGA, NC_000005.10:g.1273133_1273134insT, NC_000005.10:g.1273133_1273134insTGTG, NC_000005.10:g.1273133_1273134insTGTGA, NC_000005.9:g.1273248_1273249insCGCGA, NC_000005.9:g.1273248_1273249insCGGGA, NC_000005.9:g.1273248_1273249insCGTG, NC_000005.9:g.1273248_1273249insCGTGA, NC_000005.9:g.1273248_1273249insT, NC_000005.9:g.1273248_1273249insTGTG, NC_000005.9:g.1273248_1273249insTGTGA, NG_009265.1:g.26914_26915insTCGCG, NG_009265.1:g.26914_26915insTCCCG, NG_009265.1:g.26914_26915insCACG, NG_009265.1:g.26914_26915insTCACG, NG_009265.1:g.26914_26915insA, NG_009265.1:g.26914_26915insCACA, NG_009265.1:g.26914_26915insTCACA

Select item 149111329710.

rs1491113297 has merged into rs35577391 [Homo sapiens]

Variant type:: DELINS
Alleles:: GGGGGGG>-,GGGGG,GGGGGG,GGGGGGGG,GGGGGGGGG,GGGGGGGGGG [Show Flanks]
Chromosome:: 5:1277608 (GRCh38)
5:1277723 (GRCh37)
Canonical SPDI:: NC_000005.10:1277605:GGGGGGGGG:GG,NC_000005.10:1277605:GGGGGGGGG:GGGGGGG,NC_000005.10:1277605:GGGGGGGGG:GGGGGGGG,NC_000005.10:1277605:GGGGGGGGG:GGGGGGGGGG,NC_000005.10:1277605:GGGGGGGGG:GGGGGGGGGGG,NC_000005.10:1277605:GGGGGGGGG:GGGGGGGGGGGG
Gene:: TERT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGGGGGGGG=0./0 (ALFA)
G=0.3257/1631 (1000Genomes)
HGVS:: NC_000005.10:g.1277608_1277614del, NC_000005.10:g.1277613_1277614del, NC_000005.10:g.1277614del, NC_000005.10:g.1277614dup, NC_000005.10:g.1277613_1277614dup, NC_000005.10:g.1277612_1277614dup, NC_000005.9:g.1277723_1277729del, NC_000005.9:g.1277728_1277729del, NC_000005.9:g.1277729del, NC_000005.9:g.1277729dup, NC_000005.9:g.1277728_1277729dup, NC_000005.9:g.1277727_1277729dup, NG_009265.1:g.22436_22442del, NG_009265.1:g.22441_22442del, NG_009265.1:g.22442del, NG_009265.1:g.22442dup, NG_009265.1:g.22441_22442dup, NG_009265.1:g.22440_22442dup

Select item 149107829711.

rs1491078297 [Homo sapiens]

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

Select item 149107346712.

rs1491073467 has merged into rs762204084 [Homo sapiens]

Variant type:: DELINS
Alleles:: TATATA>-,TA,TATA,TATATATA,TATATATATA,TATATATATATA [Show Flanks]
Chromosome:: 5:1287522 (GRCh38)
5:1287637 (GRCh37)
Canonical SPDI:: NC_000005.10:1287508:ATATATATATATATATATA:ATATATATATATA,NC_000005.10:1287508:ATATATATATATATATATA:ATATATATATATATA,NC_000005.10:1287508:ATATATATATATATATATA:ATATATATATATATATA,NC_000005.10:1287508:ATATATATATATATATATA:ATATATATATATATATATATA,NC_000005.10:1287508:ATATATATATATATATATA:ATATATATATATATATATATATA,NC_000005.10:1287508:ATATATATATATATATATA:ATATATATATATATATATATATATA
Gene:: TERT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATATATATATATATATATATA=0./0 (ALFA)
HGVS:: NC_000005.10:g.1287510TA[6], NC_000005.10:g.1287510TA[7], NC_000005.10:g.1287510TA[8], NC_000005.10:g.1287510TA[10], NC_000005.10:g.1287510TA[11], NC_000005.10:g.1287510TA[12], NC_000005.9:g.1287625TA[6], NC_000005.9:g.1287625TA[7], NC_000005.9:g.1287625TA[8], NC_000005.9:g.1287625TA[10], NC_000005.9:g.1287625TA[11], NC_000005.9:g.1287625TA[12], NG_009265.1:g.12522AT[6], NG_009265.1:g.12522AT[7], NG_009265.1:g.12522AT[8], NG_009265.1:g.12522AT[10], NG_009265.1:g.12522AT[11], NG_009265.1:g.12522AT[12], NG_055468.1:g.1137TA[6], NG_055468.1:g.1137TA[7], NG_055468.1:g.1137TA[8], NG_055468.1:g.1137TA[10], NG_055468.1:g.1137TA[11], NG_055468.1:g.1137TA[12]

Select item 149101651713.

rs1491016517 [Homo sapiens]

Variant type:: DELINS
Alleles:: AC>- [Show Flanks]
Chromosome:: 5:1272729 (GRCh38)
5:1272844 (GRCh37)
Canonical SPDI:: NC_000005.10:1272727:CAC:C
Gene:: TERT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: -=0.00004/1 (TOMMO)
HGVS:: NC_000005.10:g.1272729_1272730del, NC_000005.9:g.1272844_1272845del, NG_009265.1:g.27319_27320del

Select item 149100254014.

rs1491002540 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 5:1271796 (GRCh38)
5:1271911 (GRCh37)
Canonical SPDI:: NC_000005.10:1271795:G:C
Gene:: TERT (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.1271796G>C, NC_000005.9:g.1271911G>C, NG_009265.1:g.28252C>G

Select item 149098024415.

rs1490980244 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 5:1280887 (GRCh38)
5:1281002 (GRCh37)
Canonical SPDI:: NC_000005.10:1280886:G:T
Gene:: TERT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.1280887G>T, NC_000005.9:g.1281002G>T, NG_009265.1:g.19161C>A

Select item 149096186116.

rs1490961861 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:1284168 (GRCh38)
5:1284283 (GRCh37)
Canonical SPDI:: NC_000005.10:1284167:A:G
Gene:: TERT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.00615/100 (ALFA)
G=0.00033/20 (GnomAD)
G=0.00043/7 (TOMMO)
G=0.00062/4 (1000Genomes)
G=0.08471/246 (KOREAN)
HGVS:: NC_000005.10:g.1284168A>G, NC_000005.9:g.1284283A>G, NG_009265.1:g.15880T>C

Select item 149087532017.

rs1490875320 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 5:1260721 (GRCh38)
5:1260836 (GRCh37)
Canonical SPDI:: NC_000005.10:1260720:C:A,NC_000005.10:1260720:C:T
Gene:: TERT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00074/12 (TOMMO)
HGVS:: NC_000005.10:g.1260721C>A, NC_000005.10:g.1260721C>T, NC_000005.9:g.1260836C>A, NC_000005.9:g.1260836C>T, NG_009265.1:g.39327G>T, NG_009265.1:g.39327G>A

Select item 149078035618.

rs1490780356 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:1296902 (GRCh38)
5:1297017 (GRCh37)
Canonical SPDI:: NC_000005.10:1296901:G:A
Gene:: TERT (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000005.10:g.1296902G>A, NC_000005.9:g.1297017G>A, NG_009265.1:g.3146C>T, NG_055467.1:g.2375G>A

Select item 149075193519.

rs1490751935 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 5:1273657 (GRCh38)
5:1273772 (GRCh37)
Canonical SPDI:: NC_000005.10:1273656:C:G,NC_000005.10:1273656:C:T
Gene:: TERT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00024/6 (GnomAD)
T=0.05231/95 (KOREAN)
C=0.41667/10 (SGDP_PRJ)
HGVS:: NC_000005.10:g.1273657C>G, NC_000005.10:g.1273657C>T, NC_000005.9:g.1273772C>G, NC_000005.9:g.1273772C>T, NG_009265.1:g.26391G>C, NG_009265.1:g.26391G>A

Select item 149074806020.

rs1490748060 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:1275997 (GRCh38)
5:1276112 (GRCh37)
Canonical SPDI:: NC_000005.10:1275996:G:A
Gene:: TERT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.1275997G>A, NC_000005.9:g.1276112G>A, NG_009265.1:g.24051C>T

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