SNP Links for Gene (Select 137835) - SNP

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Select item 14915817791.

rs1491581779 [Homo sapiens]

Variant type:: INS
Alleles:: ->CT [Show Flanks]
Chromosome:: 8:132746367 (GRCh38)
8:133758614 (GRCh37)
Canonical SPDI:: NC_000008.11:132746367::CT
Gene:: TMEM71 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CT=0./0 (ALFA)
HGVS:: NC_000008.11:g.132746367_132746368insCT, NC_000008.10:g.133758613_133758614insCT

Select item 14915703552.

rs1491570355 has merged into rs769976845 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>-,GAGA [Show Flanks]
Chromosome:: 8:132750026 (GRCh38)
8:133762272 (GRCh37)
Canonical SPDI:: NC_000008.11:132750024:AGA:A,NC_000008.11:132750024:AGA:AGAGA
Gene:: TMEM71 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.0011/18 (ALFA)
-=0.0011/18 (TOMMO)
AG=0.11209/432 (ALSPAC)
AG=0.14914/553 (TWINSUK)
HGVS:: NC_000008.11:g.132750026_132750027del, NC_000008.11:g.132750026_132750027dup, NC_000008.10:g.133762272_133762273del, NC_000008.10:g.133762272_133762273dup

Select item 14915616243.

rs1491561624 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GTATATAT [Show Flanks]
Chromosome:: 8:132746389 (GRCh38)
8:133758636 (GRCh37)
Canonical SPDI:: NC_000008.11:132746389:TATATAT:TATATATGTATATAT
Gene:: TMEM71 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TATATATGTATATAT=0.00008/1 (ALFA)
HGVS:: NC_000008.11:g.132746390_132746396TA[3]TGTATATAT[1], NC_000008.10:g.133758636_133758642TA[3]TGTATATAT[1]

Select item 14914829864.

rs1491482986 has merged into rs58252714 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>-,TATA,TATACATATATATATA,TATACATATATATATACATATATATATA,TATACATATATATATACATATATATATACATATATATATA,TATACATATATATGTATATATATATACATATATATATA,TATATA [Show Flanks]
Chromosome:: 8:132746496 (GRCh38)
8:133758742 (GRCh37)
Canonical SPDI:: NC_000008.11:132746488:ATATATATA:ATATATA,NC_000008.11:132746488:ATATATATA:ATATATATATA,NC_000008.11:132746488:ATATATATA:ATATATATATACATATATATATA,NC_000008.11:132746488:ATATATATA:ATATATATATACATATATATATACATATATATATA,NC_000008.11:132746488:ATATATATA:ATATATATATACATATATATATACATATATATATACATATATATATA,NC_000008.11:132746488:ATATATATA:ATATATATATACATATATATGTATATATATATACATATATATATA,NC_000008.11:132746488:ATATATATA:ATATATATATATA
Gene:: TMEM71 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATATATATA=0./0 (ALFA)
AT=0.1891/45 (NorthernSweden)
HGVS:: NC_000008.11:g.132746490TA[3], NC_000008.11:g.132746490TA[5], NC_000008.11:g.132746489_132746497AT[5]ACATATATATATA[1], NC_000008.11:g.132746489_132746497ATATATATATAC[2]AT[5]A[1], NC_000008.11:g.132746489_132746497ATATATATATAC[3]AT[5]A[1], NC_000008.11:g.132746489_132746497AT[5]ACATATATATGTATATATATATACATATATATATA[1], NC_000008.11:g.132746490TA[6], NC_000008.10:g.133758736TA[3], NC_000008.10:g.133758736TA[5], NC_000008.10:g.133758735_133758743AT[5]ACATATATATATA[1], NC_000008.10:g.133758735_133758743ATATATATATAC[2]AT[5]A[1], NC_000008.10:g.133758735_133758743ATATATATATAC[3]AT[5]A[1], NC_000008.10:g.133758735_133758743AT[5]ACATATATATGTATATATATATACATATATATATA[1], NC_000008.10:g.133758736TA[6]

Select item 14914644625.

rs1491464462 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 8:132726854 (GRCh38)
8:133739100 (GRCh37)
Canonical SPDI:: NC_000008.11:132726852:TCT:T
Gene:: TMEM71 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
-=0.000015/2 (GnomAD)
HGVS:: NC_000008.11:g.132726854_132726855del, NC_000008.10:g.133739100_133739101del

Select item 14914322096.

rs1491432209 [Homo sapiens]

Variant type:: INS
Alleles:: ->TG [Show Flanks]
Chromosome:: 8:132746487 (GRCh38)
8:133758734 (GRCh37)
Canonical SPDI:: NC_000008.11:132746487::TG
Gene:: TMEM71 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TG=0./0 (ALFA)
TG=0.00437/68 (GnomAD)
HGVS:: NC_000008.11:g.132746487_132746488insTG, NC_000008.10:g.133758733_133758734insTG

Select item 14914215917.

rs1491421591 [Homo sapiens]

Variant type:: DELINS
Alleles:: TATATATA>-,TATATA,TATATATATA [Show Flanks]
Chromosome:: 8:132746368 (GRCh38)
8:133758614 (GRCh37)
Canonical SPDI:: NC_000008.11:132746366:ATATATATA:A,NC_000008.11:132746366:ATATATATA:ATATATA,NC_000008.11:132746366:ATATATATA:ATATATATATA
Gene:: TMEM71 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATATATATA=0./0 (ALFA)
HGVS:: NC_000008.11:g.132746368_132746375del, NC_000008.11:g.132746368TA[3], NC_000008.11:g.132746368TA[5], NC_000008.10:g.133758614_133758621del, NC_000008.10:g.133758614TA[3], NC_000008.10:g.133758614TA[5]

Select item 14914029448.

rs1491402944 has merged into rs1167586608 [Homo sapiens]

Variant type:: DELINS
Alleles:: TATATATA>-,TA,TATATA,TATATATATA [Show Flanks]
Chromosome:: 8:132746392 (GRCh38)
8:133758638 (GRCh37)
Canonical SPDI:: NC_000008.11:132746388:ATATATATATA:ATA,NC_000008.11:132746388:ATATATATATA:ATATA,NC_000008.11:132746388:ATATATATATA:ATATATATA,NC_000008.11:132746388:ATATATATATA:ATATATATATATA
Gene:: TMEM71 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATATATA=0./0 (ALFA)
-=0.00018/3 (TOMMO)
HGVS:: NC_000008.11:g.132746390TA[1], NC_000008.11:g.132746390TA[2], NC_000008.11:g.132746390TA[4], NC_000008.11:g.132746390TA[6], NC_000008.10:g.133758636TA[1], NC_000008.10:g.133758636TA[2], NC_000008.10:g.133758636TA[4], NC_000008.10:g.133758636TA[6]

Select item 14913995939.

rs1491399593 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 8:132757825 (GRCh38)
8:133770071 (GRCh37)
Canonical SPDI:: NC_000008.11:132757824:CA:
Gene:: TMEM71 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00025/3 (ALFA)
HGVS:: NC_000008.11:g.132757825_132757826del, NC_000008.10:g.133770071_133770072del

Select item 149132344110.

rs1491323441 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GT [Show Flanks]
Chromosome:: 8:132746489 (GRCh38)
8:133758736 (GRCh37)
Canonical SPDI:: NC_000008.11:132746489:T:TGT
Gene:: TMEM71 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TGT=0./0 (ALFA)
HGVS:: NC_000008.11:g.132746490_132746491insGT, NC_000008.10:g.133758736_133758737insGT

Select item 149128091611.

rs1491280916 has merged into rs56859505 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 8:132757838 (GRCh38)
8:133770084 (GRCh37)
Canonical SPDI:: NC_000008.11:132757825:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000008.11:132757825:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000008.11:132757825:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000008.11:132757825:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000008.11:132757825:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000008.11:132757825:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000008.11:132757825:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000008.11:132757825:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000008.11:132757825:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000008.11:132757825:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000008.11:132757825:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:132757825:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:132757825:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:132757825:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: TMEM71 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
-=0.374/1873 (1000Genomes)
HGVS:: NC_000008.11:g.132757838_132757847del, NC_000008.11:g.132757839_132757847del, NC_000008.11:g.132757840_132757847del, NC_000008.11:g.132757841_132757847del, NC_000008.11:g.132757842_132757847del, NC_000008.11:g.132757843_132757847del, NC_000008.11:g.132757844_132757847del, NC_000008.11:g.132757845_132757847del, NC_000008.11:g.132757846_132757847del, NC_000008.11:g.132757847del, NC_000008.11:g.132757847dup, NC_000008.11:g.132757846_132757847dup, NC_000008.11:g.132757845_132757847dup, NC_000008.11:g.132757844_132757847dup, NC_000008.10:g.133770084_133770093del, NC_000008.10:g.133770085_133770093del, NC_000008.10:g.133770086_133770093del, NC_000008.10:g.133770087_133770093del, NC_000008.10:g.133770088_133770093del, NC_000008.10:g.133770089_133770093del, NC_000008.10:g.133770090_133770093del, NC_000008.10:g.133770091_133770093del, NC_000008.10:g.133770092_133770093del, NC_000008.10:g.133770093del, NC_000008.10:g.133770093dup, NC_000008.10:g.133770092_133770093dup, NC_000008.10:g.133770091_133770093dup, NC_000008.10:g.133770090_133770093dup

Select item 149122212312.

rs1491222123 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 8:132746488 (GRCh38)
8:133758734 (GRCh37)
Canonical SPDI:: NC_000008.11:132746486:ACA:A
Gene:: TMEM71 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
-=0.0001/1 (GnomAD)
HGVS:: NC_000008.11:g.132746488_132746489del, NC_000008.10:g.133758734_133758735del

Select item 149099480113.

rs1490994801 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:132731559 (GRCh38)
8:133743805 (GRCh37)
Canonical SPDI:: NC_000008.11:132731558:A:G
Gene:: TMEM71 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000008.11:g.132731559A>G, NC_000008.10:g.133743805A>G

Select item 149091551114.

rs1490915511 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:132756073 (GRCh38)
8:133768319 (GRCh37)
Canonical SPDI:: NC_000008.11:132756072:A:G
Gene:: TMEM71 (Varview)
Functional Consequence:: intron_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_000008.11:g.132756073A>G, NC_000008.10:g.133768319A>G

Select item 149090043215.

rs1490900432 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 8:132756758 (GRCh38)
8:133769004 (GRCh37)
Canonical SPDI:: NC_000008.11:132756757:T:A
Gene:: TMEM71 (Varview)
Functional Consequence:: 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_000008.11:g.132756758T>A, NC_000008.10:g.133769004T>A

Select item 149080736716.

rs1490807367 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:132750044 (GRCh38)
8:133762290 (GRCh37)
Canonical SPDI:: NC_000008.11:132750043:A:G
Gene:: TMEM71 (Varview)
Functional Consequence:: intron_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_000008.11:g.132750044A>G, NC_000008.10:g.133762290A>G

Select item 149074873117.

rs1490748731 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 8:132736027 (GRCh38)
8:133748273 (GRCh37)
Canonical SPDI:: NC_000008.11:132736026:A:T
Gene:: TMEM71 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.132736027A>T, NC_000008.10:g.133748273A>T

Select item 149073986218.

rs1490739862 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:132715359 (GRCh38)
8:133727605 (GRCh37)
Canonical SPDI:: NC_000008.11:132715358:G:A
Gene:: TMEM71 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/1 (GnomAD)
HGVS:: NC_000008.11:g.132715359G>A, NC_000008.10:g.133727605G>A

Select item 149071455319.

rs1490714553 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:132749370 (GRCh38)
8:133761616 (GRCh37)
Canonical SPDI:: NC_000008.11:132749369:G:A
Gene:: TMEM71 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000008.11:g.132749370G>A, NC_000008.10:g.133761616G>A

Select item 149051335720.

rs1490513357 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAT>- [Show Flanks]
Chromosome:: 8:132732476 (GRCh38)
8:133744722 (GRCh37)
Canonical SPDI:: NC_000008.11:132732472:GATGAT:GAT
Gene:: TMEM71 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GATGAT=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.132732473GAT[1], NC_000008.10:g.133744719GAT[1]

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