SNP Links for Gene (Select 80231) - SNP

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Select item 14915352061.

rs1491535206 has merged into rs747178131 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>-,GAGA [Show Flanks]
Chromosome:: X:30571282 (GRCh38)
X:30589399 (GRCh37)
Canonical SPDI:: NC_000023.11:30571280:AGA:A,NC_000023.11:30571280:AGA:AGAGA
Gene:: TASL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAGA=0./0 (ALFA)
-=0.00382/284 (GnomAD)
HGVS:: NC_000023.11:g.30571282_30571283del, NC_000023.11:g.30571282_30571283dup, NC_000023.10:g.30589399_30589400del, NC_000023.10:g.30589399_30589400dup, NG_016375.1:g.11635_11636del, NG_016375.1:g.11635_11636dup

Select item 14914619152.

rs1491461915 [Homo sapiens]

Variant type:: DEL
Alleles:: AC>- [Show Flanks]
Chromosome:: X:30570226 (GRCh38)
X:30588343 (GRCh37)
Canonical SPDI:: NC_000023.11:30570225:AC:
Gene:: TASL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000026/7 (TOPMED)
-=0.000031/2 (GnomAD)
HGVS:: NC_000023.11:g.30570226_30570227del, NC_000023.10:g.30588343_30588344del, NG_016375.1:g.12690_12691del

Select item 14913827433.

rs1491382743 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: X:30568970 (GRCh38)
X:30587087 (GRCh37)
Canonical SPDI:: NC_000023.11:30568969:CA:
Gene:: TASL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000023.11:g.30568970_30568971del, NC_000023.10:g.30587087_30587088del, NG_016375.1:g.13946_13947del

Select item 14913477564.

rs1491347756 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>-,GAGA [Show Flanks]
Chromosome:: X:30571290 (GRCh38)
X:30589407 (GRCh37)
Canonical SPDI:: NC_000023.11:30571288:AGA:A,NC_000023.11:30571288:AGA:AGAGA
Gene:: TASL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAGA=0./0 (ALFA)
-=0.01144/584 (GnomAD)
-=0.01234/157 (TOMMO)
-=0.20907/604 (ALSPAC)
-=0.21872/811 (TWINSUK)
HGVS:: NC_000023.11:g.30571290_30571291del, NC_000023.11:g.30571290_30571291dup, NC_000023.10:g.30589407_30589408del, NC_000023.10:g.30589407_30589408dup, NG_016375.1:g.11627_11628del, NG_016375.1:g.11627_11628dup

Select item 14913413535.

rs1491341353 has merged into rs754363953 [Homo sapiens]

Variant type:: DELINS
Alleles:: GGG>-,G,GG,GGGG,GGGGG [Show Flanks]
Chromosome:: X:30571644 (GRCh38)
X:30589761 (GRCh37)
Canonical SPDI:: NC_000023.11:30571635:GGGGGGGGGGG:GGGGGGGG,NC_000023.11:30571635:GGGGGGGGGGG:GGGGGGGGG,NC_000023.11:30571635:GGGGGGGGGGG:GGGGGGGGGG,NC_000023.11:30571635:GGGGGGGGGGG:GGGGGGGGGGGG,NC_000023.11:30571635:GGGGGGGGGGG:GGGGGGGGGGGGG
Gene:: TASL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGGGGGG=0./0 (ALFA)
-=0.125/5 (GENOME_DK)
HGVS:: NC_000023.11:g.30571644_30571646del, NC_000023.11:g.30571645_30571646del, NC_000023.11:g.30571646del, NC_000023.11:g.30571646dup, NC_000023.11:g.30571645_30571646dup, NC_000023.10:g.30589761_30589763del, NC_000023.10:g.30589762_30589763del, NC_000023.10:g.30589763del, NC_000023.10:g.30589763dup, NC_000023.10:g.30589762_30589763dup, NG_016375.1:g.11279_11281del, NG_016375.1:g.11280_11281del, NG_016375.1:g.11281del, NG_016375.1:g.11281dup, NG_016375.1:g.11280_11281dup

Select item 14912904666.

rs1491290466 has merged into rs753603469 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>-,GAGA [Show Flanks]
Chromosome:: X:30571274 (GRCh38)
X:30589391 (GRCh37)
Canonical SPDI:: NC_000023.11:30571272:AGA:A,NC_000023.11:30571272:AGA:AGAGA
Gene:: TASL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAGA=0./0 (ALFA)
AG=0.00002/1 (GnomAD)
HGVS:: NC_000023.11:g.30571274_30571275del, NC_000023.11:g.30571274_30571275dup, NC_000023.10:g.30589391_30589392del, NC_000023.10:g.30589391_30589392dup, NG_016375.1:g.11643_11644del, NG_016375.1:g.11643_11644dup

Select item 14912095037.

rs1491209503 has merged into rs139566030 [Homo sapiens]

Variant type:: DELINS
Alleles:: CACACACA>-,CACA,CACACA,CACACACACA,CACACACACACA,CACACACACACACA,CACACACACACACACA [Show Flanks]
Chromosome:: X:30570253 (GRCh38)
X:30588370 (GRCh37)
Canonical SPDI:: NC_000023.11:30570236:CACACACACACACACACACACACA:CACACACACACACACA,NC_000023.11:30570236:CACACACACACACACACACACACA:CACACACACACACACACACA,NC_000023.11:30570236:CACACACACACACACACACACACA:CACACACACACACACACACACA,NC_000023.11:30570236:CACACACACACACACACACACACA:CACACACACACACACACACACACACA,NC_000023.11:30570236:CACACACACACACACACACACACA:CACACACACACACACACACACACACACA,NC_000023.11:30570236:CACACACACACACACACACACACA:CACACACACACACACACACACACACACACA,NC_000023.11:30570236:CACACACACACACACACACACACA:CACACACACACACACACACACACACACACACA
Gene:: TASL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CACACACACACACACACACA=0./0 (ALFA)
-=0.5/20 (GENOME_DK)
HGVS:: NC_000023.11:g.30570237CA[8], NC_000023.11:g.30570237CA[10], NC_000023.11:g.30570237CA[11], NC_000023.11:g.30570237CA[13], NC_000023.11:g.30570237CA[14], NC_000023.11:g.30570237CA[15], NC_000023.11:g.30570237CA[16], NC_000023.10:g.30588354CA[8], NC_000023.10:g.30588354CA[10], NC_000023.10:g.30588354CA[11], NC_000023.10:g.30588354CA[13], NC_000023.10:g.30588354CA[14], NC_000023.10:g.30588354CA[15], NC_000023.10:g.30588354CA[16], NG_016375.1:g.12657TG[8], NG_016375.1:g.12657TG[10], NG_016375.1:g.12657TG[11], NG_016375.1:g.12657TG[13], NG_016375.1:g.12657TG[14], NG_016375.1:g.12657TG[15], NG_016375.1:g.12657TG[16]

Select item 14911536188.

rs1491153618 has merged into rs58377097 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAA>-,AA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA [Show Flanks]
Chromosome:: X:30568979 (GRCh38)
X:30587096 (GRCh37)
Canonical SPDI:: NC_000023.11:30568970:AAAAAAAAAAAAAAAA:AAAAAAAA,NC_000023.11:30568970:AAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000023.11:30568970:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000023.11:30568970:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000023.11:30568970:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000023.11:30568970:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000023.11:30568970:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000023.11:30568970:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000023.11:30568970:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA
Gene:: TASL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
A=0.03858/492 (TOMMO)
A=0.47656/1799 (1000Genomes)
HGVS:: NC_000023.11:g.30568979_30568986del, NC_000023.11:g.30568981_30568986del, NC_000023.11:g.30568983_30568986del, NC_000023.11:g.30568984_30568986del, NC_000023.11:g.30568985_30568986del, NC_000023.11:g.30568986del, NC_000023.11:g.30568986dup, NC_000023.11:g.30568985_30568986dup, NC_000023.11:g.30568984_30568986dup, NC_000023.10:g.30587096_30587103del, NC_000023.10:g.30587098_30587103del, NC_000023.10:g.30587100_30587103del, NC_000023.10:g.30587101_30587103del, NC_000023.10:g.30587102_30587103del, NC_000023.10:g.30587103del, NC_000023.10:g.30587103dup, NC_000023.10:g.30587102_30587103dup, NC_000023.10:g.30587101_30587103dup, NG_016375.1:g.13939_13946del, NG_016375.1:g.13941_13946del, NG_016375.1:g.13943_13946del, NG_016375.1:g.13944_13946del, NG_016375.1:g.13945_13946del, NG_016375.1:g.13946del, NG_016375.1:g.13946dup, NG_016375.1:g.13945_13946dup, NG_016375.1:g.13944_13946dup

Select item 14911060059.

rs1491106005 has merged into rs747178131 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>-,GAGA [Show Flanks]
Chromosome:: X:30571282 (GRCh38)
X:30589399 (GRCh37)
Canonical SPDI:: NC_000023.11:30571280:AGA:A,NC_000023.11:30571280:AGA:AGAGA
Gene:: TASL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAGA=0./0 (ALFA)
-=0.00382/284 (GnomAD)
HGVS:: NC_000023.11:g.30571282_30571283del, NC_000023.11:g.30571282_30571283dup, NC_000023.10:g.30589399_30589400del, NC_000023.10:g.30589399_30589400dup, NG_016375.1:g.11635_11636del, NG_016375.1:g.11635_11636dup

Select item 149109093910.

rs1491090939 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AAGGAAAGAAAGAAAGAAA [Show Flanks]
Chromosome:: X:30571281 (GRCh38)
X:30589399 (GRCh37)
Canonical SPDI:: NC_000023.11:30571281:GAAAGAAAGAAAGAAA:GAAAGAAAGAAAGAAAAAGGAAAGAAAGAAAGAAA
Gene:: TASL (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000023.11:g.30571282_30571297GAAA[4]AAGGAAAGAAAGAAAGAAA[1], NC_000023.10:g.30589399_30589414GAAA[4]AAGGAAAGAAAGAAAGAAA[1], NG_016375.1:g.11620_11635TTTC[4]CTTTTTCTTTCTTTCTTTC[1]

Select item 149105489911.

rs1491054899 has merged into rs1276759425 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATAT>-,AT,ATATAT [Show Flanks]
Chromosome:: X:30570264 (GRCh38)
X:30588381 (GRCh37)
Canonical SPDI:: NC_000023.11:30570259:ATATATAT:ATAT,NC_000023.11:30570259:ATATATAT:ATATAT,NC_000023.11:30570259:ATATATAT:ATATATATAT
Gene:: TASL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATAT=0./0 (ALFA)
HGVS:: NC_000023.11:g.30570260AT[2], NC_000023.11:g.30570260AT[3], NC_000023.11:g.30570260AT[5], NC_000023.10:g.30588377AT[2], NC_000023.10:g.30588377AT[3], NC_000023.10:g.30588377AT[5], NG_016375.1:g.12650AT[2], NG_016375.1:g.12650AT[3], NG_016375.1:g.12650AT[5]

Select item 149104919012.

rs1491049190 has merged into rs372591772 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,AAA,AAAA,AATAAA [Show Flanks]
Chromosome:: X:30571268 (GRCh38)
X:30589385 (GRCh37)
Canonical SPDI:: NC_000023.11:30571266:AAA:A,NC_000023.11:30571266:AAA:AAAA,NC_000023.11:30571266:AAA:AAAAA,NC_000023.11:30571266:AAA:AAATAAA
Gene:: TASL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AAAA=0./0 (ALFA)
-=0.00009/3 (GnomAD)
HGVS:: NC_000023.11:g.30571268_30571269del, NC_000023.11:g.30571269dup, NC_000023.11:g.30571268_30571269dup, NC_000023.11:g.30571269_30571270insTAAA, NC_000023.10:g.30589385_30589386del, NC_000023.10:g.30589386dup, NC_000023.10:g.30589385_30589386dup, NC_000023.10:g.30589386_30589387insTAAA, NG_016375.1:g.11649_11650del, NG_016375.1:g.11650dup, NG_016375.1:g.11649_11650dup, NG_016375.1:g.11650_11651insATTT

Select item 149063048913.

rs1490630489 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:30559954 (GRCh38)
X:30578071 (GRCh37)
Canonical SPDI:: NC_000023.11:30559953:C:T
Gene:: TASL (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.30559954C>T, NC_000023.10:g.30578071C>T, NG_016375.1:g.22963G>A, NM_025159.3:c.402G>A, NM_025159.2:c.402G>A

Select item 149046399714.

rs1490463997 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:30577864 (GRCh38)
X:30595981 (GRCh37)
Canonical SPDI:: NC_000023.11:30577863:G:A
Gene:: TASL (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.30577864G>A, NC_000023.10:g.30595981G>A, NG_016375.1:g.5053C>T, NM_025159.2:c.-343C>T

Select item 149040329515.

rs1490403295 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: X:30572890 (GRCh38)
X:30591007 (GRCh37)
Canonical SPDI:: NC_000023.11:30572889:A:T
Gene:: TASL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000023.11:g.30572890A>T, NC_000023.10:g.30591007A>T, NG_016375.1:g.10027T>A

Select item 149033398216.

rs1490333982 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TAG [Show Flanks]
Chromosome:: X:30565949 (GRCh38)
X:30584067 (GRCh37)
Canonical SPDI:: NC_000023.11:30565949:TAGTAG:TAGTAGTAG
Gene:: TASL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TAGTAGTAG=0.000071/1 (ALFA)
TAG=0.00001/1 (GnomAD)
TAG=0.000034/9 (TOPMED)
HGVS:: NC_000023.11:g.30565950TAG[3], NC_000023.10:g.30584067TAG[3], NG_016375.1:g.16962CTA[3]

Select item 149023979317.

rs1490239793 [Homo sapiens]

Variant type:: INS
Alleles:: ->AAGAGAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAG,AG [Show Flanks]
Chromosome:: X:30571257 (GRCh38)
X:30589375 (GRCh37)
Canonical SPDI:: NC_000023.11:30571257::AAGAGAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAG,NC_000023.11:30571257::AG
Gene:: TASL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AG=0./0 (ALFA)
AAGAGAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAG=0.00021/2 (GnomAD)
HGVS:: NC_000023.11:g.30571257_30571258insAAGAGAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAG, NC_000023.11:g.30571257_30571258insAG, NC_000023.10:g.30589374_30589375insAAGAGAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAG, NC_000023.10:g.30589374_30589375insAG, NG_016375.1:g.11659_11660insCTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTCTCTT, NG_016375.1:g.11659_11660insCT

Select item 149020797718.

rs1490207977 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: X:30574580 (GRCh38)
X:30592697 (GRCh37)
Canonical SPDI:: NC_000023.11:30574579:C:G
Gene:: TASL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000019/2 (GnomAD)
HGVS:: NC_000023.11:g.30574580C>G, NC_000023.10:g.30592697C>G, NG_016375.1:g.8337G>C

Select item 149013878919.

rs1490138789 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>- [Show Flanks]
Chromosome:: X:30576447 (GRCh38)
X:30594564 (GRCh37)
Canonical SPDI:: NC_000023.11:30576445:AAA:A
Gene:: TASL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.30576447_30576448del, NC_000023.10:g.30594564_30594565del, NG_016375.1:g.6470_6471del

Select item 149008110920.

rs1490081109 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:30574649 (GRCh38)
X:30592766 (GRCh37)
Canonical SPDI:: NC_000023.11:30574648:G:A
Gene:: TASL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.30574649G>A, NC_000023.10:g.30592766G>A, NG_016375.1:g.8268C>T

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