SNP Links for Nucleotide (Select 351542191) - SNP

Links from Nucleotide

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Select item 14915850971.

rs1491585097 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>-,TTT [Show Flanks]
Chromosome:: 2:165927146 (GRCh38)
2:166783656 (GRCh37)
Canonical SPDI:: NC_000002.12:165927145:TT:T,NC_000002.12:165927145:TT:TTTT
Gene:: TTC21B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TTTT=0./0 (ALFA)
HGVS:: NC_000002.12:g.165927147del, NC_000002.12:g.165927146_165927147dup, NC_000002.11:g.166783657del, NC_000002.11:g.166783656_166783657dup, NG_030345.1:g.31693del, NG_030345.1:g.31692_31693dup

Select item 14915603902.

rs1491560390 has merged into rs1257378138 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATAT>-,AT,ATATAT,ATATATAT,ATATATATAT [Show Flanks]
Chromosome:: 2:165927208 (GRCh38)
2:166783718 (GRCh37)
Canonical SPDI:: NC_000002.12:165927196:TATATATATATATAT:TATATATATAT,NC_000002.12:165927196:TATATATATATATAT:TATATATATATAT,NC_000002.12:165927196:TATATATATATATAT:TATATATATATATATAT,NC_000002.12:165927196:TATATATATATATAT:TATATATATATATATATAT,NC_000002.12:165927196:TATATATATATATAT:TATATATATATATATATATAT
Gene:: TTC21B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATATATAT=0./0 (ALFA)
TA=0.00014/7 (GnomAD)
HGVS:: NC_000002.12:g.165927198AT[5], NC_000002.12:g.165927198AT[6], NC_000002.12:g.165927198AT[8], NC_000002.12:g.165927198AT[9], NC_000002.12:g.165927198AT[10], NC_000002.11:g.166783708AT[5], NC_000002.11:g.166783708AT[6], NC_000002.11:g.166783708AT[8], NC_000002.11:g.166783708AT[9], NC_000002.11:g.166783708AT[10], NG_030345.1:g.31629TA[5], NG_030345.1:g.31629TA[6], NG_030345.1:g.31629TA[8], NG_030345.1:g.31629TA[9], NG_030345.1:g.31629TA[10]

Select item 14915573403.

rs1491557340 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 2:165950069 (GRCh38)
2:166806580 (GRCh37)
Canonical SPDI:: NC_000002.12:165950069::A
Gene:: TTC21B (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000002.12:g.165950069_165950070insA, NC_000002.11:g.166806579_166806580insA, NG_030345.1:g.8769_8770insT

Select item 14915387634.

rs1491538763 has merged into rs577792785 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATAT>-,AT,ATATAT [Show Flanks]
Chromosome:: 2:165927184 (GRCh38)
2:166783694 (GRCh37)
Canonical SPDI:: NC_000002.12:165927172:TATATATATATATAT:TATATATATAT,NC_000002.12:165927172:TATATATATATATAT:TATATATATATAT,NC_000002.12:165927172:TATATATATATATAT:TATATATATATATATAT
Gene:: TTC21B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATATATAT=0./0 (ALFA)
TA=0.00006/2 (GnomAD)
HGVS:: NC_000002.12:g.165927174AT[5], NC_000002.12:g.165927174AT[6], NC_000002.12:g.165927174AT[8], NC_000002.11:g.166783684AT[5], NC_000002.11:g.166783684AT[6], NC_000002.11:g.166783684AT[8], NG_030345.1:g.31653TA[5], NG_030345.1:g.31653TA[6], NG_030345.1:g.31653TA[8]

Select item 14914882415.

rs1491488241 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: 2:165948264 (GRCh38)
2:166804774 (GRCh37)
Canonical SPDI:: NC_000002.12:165948262:TGT:T
Gene:: TTC21B (Varview), TTC21B-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: -=0.0227/84 (TWINSUK)
-=0.0262/101 (ALSPAC)
HGVS:: NC_000002.12:g.165948264_165948265del, NC_000002.11:g.166804774_166804775del, NG_030345.1:g.10575_10576del, NR_038983.1:n.689_690del, NR_038984.1:n.633_634del

Select item 14914838616.

rs1491483861 has merged into rs1269642540 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATATATATAT>-,ATATAT,ATATATAT,ATATATATATAT,ATATATATATATAT [Show Flanks]
Chromosome:: 2:165927298 (GRCh38)
2:166783808 (GRCh37)
Canonical SPDI:: NC_000002.12:165927294:TATATATATATAT:TAT,NC_000002.12:165927294:TATATATATATAT:TATATATAT,NC_000002.12:165927294:TATATATATATAT:TATATATATAT,NC_000002.12:165927294:TATATATATATAT:TATATATATATATAT,NC_000002.12:165927294:TATATATATATAT:TATATATATATATATAT
Gene:: TTC21B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATAT=0./0 (ALFA)
-=0.00007/1 (TOMMO)
HGVS:: NC_000002.12:g.165927296AT[1], NC_000002.12:g.165927296AT[4], NC_000002.12:g.165927296AT[5], NC_000002.12:g.165927296AT[7], NC_000002.12:g.165927296AT[8], NC_000002.11:g.166783806AT[1], NC_000002.11:g.166783806AT[4], NC_000002.11:g.166783806AT[5], NC_000002.11:g.166783806AT[7], NC_000002.11:g.166783806AT[8], NG_030345.1:g.31533TA[1], NG_030345.1:g.31533TA[4], NG_030345.1:g.31533TA[5], NG_030345.1:g.31533TA[7], NG_030345.1:g.31533TA[8]

Select item 14914208787.

rs1491420878 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CA [Show Flanks]
Chromosome:: 2:165927221 (GRCh38)
2:166783732 (GRCh37)
Canonical SPDI:: NC_000002.12:165927221:A:ACA
Gene:: TTC21B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: ACA=0./0 (ALFA)
HGVS:: NC_000002.12:g.165927222_165927223insCA, NC_000002.11:g.166783732_166783733insCA, NG_030345.1:g.31617_31618insGT

Select item 14914178418.

rs1491417841 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 2:165950069 (GRCh38)
2:166806579 (GRCh37)
Canonical SPDI:: NC_000002.12:165950068:CT:
Gene:: TTC21B (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: -=0.00007/6 (GnomAD)
HGVS:: NC_000002.12:g.165950069_165950070del, NC_000002.11:g.166806579_166806580del, NG_030345.1:g.8769_8770del

Select item 14914050659.

rs1491405065 has merged into rs1171162629 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATAT>-,AT,ATATAT,ATATATAT [Show Flanks]
Chromosome:: 2:165927282 (GRCh38)
2:166783792 (GRCh37)
Canonical SPDI:: NC_000002.12:165927270:TATATATATATATAT:TATATATATAT,NC_000002.12:165927270:TATATATATATATAT:TATATATATATAT,NC_000002.12:165927270:TATATATATATATAT:TATATATATATATATAT,NC_000002.12:165927270:TATATATATATATAT:TATATATATATATATATAT
Gene:: TTC21B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATATATAT=0./0 (ALFA)
TA=0.0009/1 (Korea1K)
TA=0.00706/91 (TOMMO)
HGVS:: NC_000002.12:g.165927272AT[5], NC_000002.12:g.165927272AT[6], NC_000002.12:g.165927272AT[8], NC_000002.12:g.165927272AT[9], NC_000002.11:g.166783782AT[5], NC_000002.11:g.166783782AT[6], NC_000002.11:g.166783782AT[8], NC_000002.11:g.166783782AT[9], NG_030345.1:g.31555TA[5], NG_030345.1:g.31555TA[6], NG_030345.1:g.31555TA[8], NG_030345.1:g.31555TA[9]

Select item 149136277810.

rs1491362778 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>- [Show Flanks]
Chromosome:: 2:165872754 (GRCh38)
2:166729264 (GRCh37)
Canonical SPDI:: NC_000002.12:165872751:ATAT:AT
Gene:: LOC100506124 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: ATAT=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.165872752AT[1], NC_000002.11:g.166729262AT[1], NG_030345.1:g.86084AT[1]

Select item 149135800811.

rs1491358008 has merged into rs71031215 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAA>-,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAATTGGCATAGAATAGTAAAAAAGAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 2:165922577 (GRCh38)
2:166779087 (GRCh37)
Canonical SPDI:: NC_000002.12:165922566:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000002.12:165922566:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:165922566:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:165922566:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000002.12:165922566:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000002.12:165922566:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000002.12:165922566:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:165922566:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:165922566:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:165922566:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:165922566:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:165922566:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:165922566:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:165922566:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:165922566:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:165922566:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:165922566:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:165922566:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:165922566:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:165922566:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:165922566:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:165922566:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:165922566:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:165922566:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:165922566:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:165922566:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:165922566:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:165922566:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAATTGGCATAGAATAGTAAAAAAGAAAAAAAAAAAAAAAAAAAAA
Gene:: TTC21B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000002.12:g.165922577_165922586del, NC_000002.12:g.165922583_165922586del, NC_000002.12:g.165922584_165922586del, NC_000002.12:g.165922585_165922586del, NC_000002.12:g.165922586del, NC_000002.12:g.165922586dup, NC_000002.12:g.165922585_165922586dup, NC_000002.12:g.165922584_165922586dup, NC_000002.12:g.165922583_165922586dup, NC_000002.12:g.165922582_165922586dup, NC_000002.12:g.165922581_165922586dup, NC_000002.12:g.165922580_165922586dup, NC_000002.12:g.165922579_165922586dup, NC_000002.12:g.165922578_165922586dup, NC_000002.12:g.165922576_165922586dup, NC_000002.12:g.165922574_165922586dup, NC_000002.12:g.165922573_165922586dup, NC_000002.12:g.165922572_165922586dup, NC_000002.12:g.165922571_165922586dup, NC_000002.12:g.165922570_165922586dup, NC_000002.12:g.165922569_165922586dup, NC_000002.12:g.165922586_165922587insAAAAAAAAAAAAAAAAAAAAA, NC_000002.12:g.165922586_165922587insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.12:g.165922586_165922587insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.12:g.165922586_165922587insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.12:g.165922586_165922587insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.12:g.165922567_165922586A[23]CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000002.12:g.165922567_165922586A[23]TTGGCATAGAATAGTAAAAAAGAAAAAAAAAAAAAAAAAAAAA[1], NC_000002.11:g.166779087_166779096del, NC_000002.11:g.166779093_166779096del, NC_000002.11:g.166779094_166779096del, NC_000002.11:g.166779095_166779096del, NC_000002.11:g.166779096del, NC_000002.11:g.166779096dup, NC_000002.11:g.166779095_166779096dup, NC_000002.11:g.166779094_166779096dup, NC_000002.11:g.166779093_166779096dup, NC_000002.11:g.166779092_166779096dup, NC_000002.11:g.166779091_166779096dup, NC_000002.11:g.166779090_166779096dup, NC_000002.11:g.166779089_166779096dup, NC_000002.11:g.166779088_166779096dup, NC_000002.11:g.166779086_166779096dup, NC_000002.11:g.166779084_166779096dup, NC_000002.11:g.166779083_166779096dup, NC_000002.11:g.166779082_166779096dup, NC_000002.11:g.166779081_166779096dup, NC_000002.11:g.166779080_166779096dup, NC_000002.11:g.166779079_166779096dup, NC_000002.11:g.166779096_166779097insAAAAAAAAAAAAAAAAAAAAA, NC_000002.11:g.166779096_166779097insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.11:g.166779096_166779097insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.11:g.166779096_166779097insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.11:g.166779096_166779097insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.11:g.166779077_166779096A[23]CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000002.11:g.166779077_166779096A[23]TTGGCATAGAATAGTAAAAAAGAAAAAAAAAAAAAAAAAAAAA[1], NG_030345.1:g.36263_36272del, NG_030345.1:g.36269_36272del, NG_030345.1:g.36270_36272del, NG_030345.1:g.36271_36272del, NG_030345.1:g.36272del, NG_030345.1:g.36272dup, NG_030345.1:g.36271_36272dup, NG_030345.1:g.36270_36272dup, NG_030345.1:g.36269_36272dup, NG_030345.1:g.36268_36272dup, NG_030345.1:g.36267_36272dup, NG_030345.1:g.36266_36272dup, NG_030345.1:g.36265_36272dup, NG_030345.1:g.36264_36272dup, NG_030345.1:g.36262_36272dup, NG_030345.1:g.36260_36272dup, NG_030345.1:g.36259_36272dup, NG_030345.1:g.36258_36272dup, NG_030345.1:g.36257_36272dup, NG_030345.1:g.36256_36272dup, NG_030345.1:g.36255_36272dup, NG_030345.1:g.36272_36273insTTTTTTTTTTTTTTTTTTTTT, NG_030345.1:g.36272_36273insTTTTTTTTTTTTTTTTTTTTTTTT, NG_030345.1:g.36272_36273insTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_030345.1:g.36272_36273insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_030345.1:g.36272_36273insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_030345.1:g.36253_36272T[58]GTTTTTTTTTTTTTTTTTTTTTTT[1], NG_030345.1:g.36253_36272T[21]CTTTTTTACTATTCTATGCCAATTTTTTTTTTTTTTTTTTTTTTT[1]

Select item 149134835612.

rs1491348356 [Homo sapiens]

Variant type:: DEL
Alleles:: GT>- [Show Flanks]
Chromosome:: 2:165927219 (GRCh38)
2:166783729 (GRCh37)
Canonical SPDI:: NC_000002.12:165927218:GT:
Gene:: TTC21B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000002.12:g.165927219_165927220del, NC_000002.11:g.166783729_166783730del, NG_030345.1:g.31619_31620del

Select item 149133053013.

rs1491330530 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CA [Show Flanks]
Chromosome:: 2:165927295 (GRCh38)
2:166783806 (GRCh37)
Canonical SPDI:: NC_000002.12:165927295:A:ACA
Gene:: TTC21B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: ACA=0./0 (ALFA)
HGVS:: NC_000002.12:g.165927296_165927297insCA, NC_000002.11:g.166783806_166783807insCA, NG_030345.1:g.31543_31544insGT

Select item 149132857314.

rs1491328573 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 2:165922566 (GRCh38)
2:166779076 (GRCh37)
Canonical SPDI:: NC_000002.12:165922565:CA:
Gene:: TTC21B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000002.12:g.165922566_165922567del, NC_000002.11:g.166779076_166779077del, NG_030345.1:g.36272_36273del

Select item 149130734215.

rs1491307342 has merged into rs58434982 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAA>-,A,AAAA,AAAAA,AAAAAA [Show Flanks]
Chromosome:: 2:165934749 (GRCh38)
2:166791259 (GRCh37)
Canonical SPDI:: NC_000002.12:165934741:AAAAAAAAAA:AAAAAAA,NC_000002.12:165934741:AAAAAAAAAA:AAAAAAAA,NC_000002.12:165934741:AAAAAAAAAA:AAAAAAAAAAA,NC_000002.12:165934741:AAAAAAAAAA:AAAAAAAAAAAA,NC_000002.12:165934741:AAAAAAAAAA:AAAAAAAAAAAAA
Gene:: TTC21B (Varview), TTC21B-AS1 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAA=0./0 (ALFA)
-=0./0 (ALSPAC)
-=0./0 (TWINSUK)
-=0.0011/5 (Estonian)
-=0.0017/1 (NorthernSweden)
-=0.025/1 (GENOME_DK)
-=0.0254/127 (1000Genomes)
HGVS:: NC_000002.12:g.165934749_165934751del, NC_000002.12:g.165934750_165934751del, NC_000002.12:g.165934751dup, NC_000002.12:g.165934750_165934751dup, NC_000002.12:g.165934749_165934751dup, NC_000002.11:g.166791259_166791261del, NC_000002.11:g.166791260_166791261del, NC_000002.11:g.166791261dup, NC_000002.11:g.166791260_166791261dup, NC_000002.11:g.166791259_166791261dup, NG_030345.1:g.24095_24097del, NG_030345.1:g.24096_24097del, NG_030345.1:g.24097dup, NG_030345.1:g.24096_24097dup, NG_030345.1:g.24095_24097dup, NR_038983.1:n.236_238del, NR_038983.1:n.237_238del, NR_038983.1:n.238dup, NR_038983.1:n.237_238dup, NR_038983.1:n.236_238dup

Select item 149130250216.

rs1491302502 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TT [Show Flanks]
Chromosome:: 2:165927219 (GRCh38)
2:166783730 (GRCh37)
Canonical SPDI:: NC_000002.12:165927219:TT:TTTT
Gene:: TTC21B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TTTT=0./0 (ALFA)
HGVS:: NC_000002.12:g.165927220_165927221dup, NC_000002.11:g.166783730_166783731dup, NG_030345.1:g.31618_31619dup

Select item 149130089317.

rs1491300893 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 2:165902229 (GRCh38)
2:166758740 (GRCh37)
Canonical SPDI:: NC_000002.12:165902229:T:TT
Gene:: TTC21B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000002.12:g.165902230dup, NC_000002.11:g.166758740dup, NG_030345.1:g.56609dup

Select item 149129287418.

rs1491292874 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,ATA [Show Flanks]
Chromosome:: 2:165927307 (GRCh38)
2:166783818 (GRCh37)
Canonical SPDI:: NC_000002.12:165927307::A,NC_000002.12:165927307::ATA
Gene:: TTC21B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATA=0./0 (ALFA)
A=0.0004/19 (GnomAD)
HGVS:: NC_000002.12:g.165927307_165927308insA, NC_000002.12:g.165927307_165927308insATA, NC_000002.11:g.166783817_166783818insA, NC_000002.11:g.166783817_166783818insATA, NG_030345.1:g.31531_31532insT, NG_030345.1:g.31531_31532insTAT

Select item 149128535919.

rs1491285359 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 2:165872752 (GRCh38)
2:166729263 (GRCh37)
Canonical SPDI:: NC_000002.12:165872752:T:TT
Gene:: LOC100506124 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000023/6 (TOPMED)
HGVS:: NC_000002.12:g.165872753dup, NC_000002.11:g.166729263dup, NG_030345.1:g.86086dup

Select item 149120536520.

rs1491205365 [Homo sapiens]

Variant type:: DEL
Alleles:: TT>- [Show Flanks]
Chromosome:: 2:165927307 (GRCh38)
2:166783817 (GRCh37)
Canonical SPDI:: NC_000002.12:165927306:TT:
Gene:: TTC21B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000002.12:g.165927307_165927308del, NC_000002.11:g.166783817_166783818del, NG_030345.1:g.31531_31532del

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