SNP Links for Gene (Select 140458) - SNP

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Select item 14915735531.

rs1491573553 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>- [Show Flanks]
Chromosome:: 4:176218224 (GRCh38)
4:177139375 (GRCh37)
Canonical SPDI:: NC_000004.12:176218222:AAA:A
Gene:: ASB5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
-=0.00005/2 (GnomAD)
-=0.00007/1 (TOMMO)
HGVS:: NC_000004.12:g.176218224_176218225del, NC_000004.11:g.177139375_177139376del

Select item 14915723142.

rs1491572314 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 4:176272963 (GRCh38)
4:177194114 (GRCh37)
Canonical SPDI:: NC_000004.12:176272961:TCT:T
Gene:: ASB5 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.00607/72 (ALFA)
HGVS:: NC_000004.12:g.176272963_176272964del, NC_000004.11:g.177194114_177194115del

Select item 14915616113.

rs1491561611 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 4:176213433 (GRCh38)
4:177134585 (GRCh37)
Canonical SPDI:: NC_000004.12:176213433::A
Gene:: ASB5 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000019/5 (TOPMED)
HGVS:: NC_000004.12:g.176213433_176213434insA, NC_000004.11:g.177134584_177134585insA

Select item 14915511434.

rs1491551143 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 4:176252085 (GRCh38)
4:177173237 (GRCh37)
Canonical SPDI:: NC_000004.12:176252085::G
Gene:: ASB5 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.01214/144 (ALFA)
G=0.0007/8 (TOMMO)
G=0.08528/2447 (GnomAD)
HGVS:: NC_000004.12:g.176252085_176252086insG, NC_000004.11:g.177173236_177173237insG

Select item 14915324785.

rs1491532478 has merged into rs1183365897 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT,TTTTTT [Show Flanks]
Chromosome:: 4:176232138 (GRCh38)
4:177153289 (GRCh37)
Canonical SPDI:: NC_000004.12:176232128:TTTTTTTTTTT:TTTTTTTTT,NC_000004.12:176232128:TTTTTTTTTTT:TTTTTTTTTT,NC_000004.12:176232128:TTTTTTTTTTT:TTTTTTTTTTTT,NC_000004.12:176232128:TTTTTTTTTTT:TTTTTTTTTTTTT,NC_000004.12:176232128:TTTTTTTTTTT:TTTTTTTTTTTTTTT
Gene:: ASB5 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
T=0.00042/7 (TOMMO)
T=0.01053/6 (NorthernSweden)
HGVS:: NC_000004.12:g.176232138_176232139del, NC_000004.12:g.176232139del, NC_000004.12:g.176232139dup, NC_000004.12:g.176232138_176232139dup, NC_000004.12:g.176232136_176232139dup, NC_000004.11:g.177153289_177153290del, NC_000004.11:g.177153290del, NC_000004.11:g.177153290dup, NC_000004.11:g.177153289_177153290dup, NC_000004.11:g.177153287_177153290dup

Select item 14915056346.

rs1491505634 has merged into rs35699083 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,T,TT,TTT,TTTTT,TTTTTT [Show Flanks]
Chromosome:: 4:176231237 (GRCh38)
4:177152388 (GRCh37)
Canonical SPDI:: NC_000004.12:176231225:TTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000004.12:176231225:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000004.12:176231225:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000004.12:176231225:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000004.12:176231225:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000004.12:176231225:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT
Gene:: ASB5 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTTT=0.0002/1 (ALFA)
TT=0.4493/2250 (1000Genomes)
HGVS:: NC_000004.12:g.176231237_176231240del, NC_000004.12:g.176231238_176231240del, NC_000004.12:g.176231239_176231240del, NC_000004.12:g.176231240del, NC_000004.12:g.176231240dup, NC_000004.12:g.176231239_176231240dup, NC_000004.11:g.177152388_177152391del, NC_000004.11:g.177152389_177152391del, NC_000004.11:g.177152390_177152391del, NC_000004.11:g.177152391del, NC_000004.11:g.177152391dup, NC_000004.11:g.177152390_177152391dup, XM_011531616.2:c.-6_-3del, XM_011531616.2:c.-5_-3del, XM_011531616.2:c.-4_-3del, XM_011531616.2:c.-3del, XM_011531616.2:c.-3dup, XM_011531616.2:c.-4_-3dup, NM_001410863.1:c.-6_-3del, NM_001410863.1:c.-5_-3del, NM_001410863.1:c.-4_-3del, NM_001410863.1:c.-3del, NM_001410863.1:c.-3dup, NM_001410863.1:c.-4_-3dup

Select item 14914558057.

rs1491455805 has merged into rs57692791 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAA>-,A,AA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 4:176252089 (GRCh38)
4:177173240 (GRCh37)
Canonical SPDI:: NC_000004.12:176252084:AAAAAAAAAAAAA:AAAA,NC_000004.12:176252084:AAAAAAAAAAAAA:AAAAA,NC_000004.12:176252084:AAAAAAAAAAAAA:AAAAAA,NC_000004.12:176252084:AAAAAAAAAAAAA:AAAAAAAA,NC_000004.12:176252084:AAAAAAAAAAAAA:AAAAAAAAA,NC_000004.12:176252084:AAAAAAAAAAAAA:AAAAAAAAAA,NC_000004.12:176252084:AAAAAAAAAAAAA:AAAAAAAAAAA,NC_000004.12:176252084:AAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000004.12:176252084:AAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000004.12:176252084:AAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000004.12:176252084:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000004.12:176252084:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:176252084:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:176252084:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:176252084:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: ASB5 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAA=0./0 (ALFA)
A=0.2069/1036 (1000Genomes)
A=0.3444/197 (NorthernSweden)
HGVS:: NC_000004.12:g.176252089_176252097del, NC_000004.12:g.176252090_176252097del, NC_000004.12:g.176252091_176252097del, NC_000004.12:g.176252093_176252097del, NC_000004.12:g.176252094_176252097del, NC_000004.12:g.176252095_176252097del, NC_000004.12:g.176252096_176252097del, NC_000004.12:g.176252097del, NC_000004.12:g.176252097dup, NC_000004.12:g.176252096_176252097dup, NC_000004.12:g.176252094_176252097dup, NC_000004.12:g.176252097_176252098insAAAAAAAAAAAAAAAAAAAAAA, NC_000004.12:g.176252097_176252098insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.12:g.176252097_176252098insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.12:g.176252097_176252098insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.11:g.177173240_177173248del, NC_000004.11:g.177173241_177173248del, NC_000004.11:g.177173242_177173248del, NC_000004.11:g.177173244_177173248del, NC_000004.11:g.177173245_177173248del, NC_000004.11:g.177173246_177173248del, NC_000004.11:g.177173247_177173248del, NC_000004.11:g.177173248del, NC_000004.11:g.177173248dup, NC_000004.11:g.177173247_177173248dup, NC_000004.11:g.177173245_177173248dup, NC_000004.11:g.177173248_177173249insAAAAAAAAAAAAAAAAAAAAAA, NC_000004.11:g.177173248_177173249insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.11:g.177173248_177173249insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.11:g.177173248_177173249insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 14914098208.

rs1491409820 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AATATATA,AATATATATA [Show Flanks]
Chromosome:: 4:176218508 (GRCh38)
4:177139660 (GRCh37)
Canonical SPDI:: NC_000004.12:176218508:ATATATA:ATATATAAATATATA,NC_000004.12:176218508:ATATATA:ATATATAAATATATATA
Gene:: ASB5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATATAAATATATATA=0./0 (ALFA)
HGVS:: NC_000004.12:g.176218509_176218515AT[3]AAATATATA[1], NC_000004.12:g.176218509_176218515AT[3]AAATATATATA[1], NC_000004.11:g.177139660_177139666AT[3]AAATATATA[1], NC_000004.11:g.177139660_177139666AT[3]AAATATATATA[1]

Select item 14914086599.

rs1491408659 has merged into rs1230413282 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATAT>-,AT,ATATAT [Show Flanks]
Chromosome:: 4:176219515 (GRCh38)
4:177140666 (GRCh37)
Canonical SPDI:: NC_000004.12:176219508:ATATATATAT:ATATAT,NC_000004.12:176219508:ATATATATAT:ATATATAT,NC_000004.12:176219508:ATATATATAT:ATATATATATAT
Gene:: ASB5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATATAT=0./0 (ALFA)
-=0.00003/1 (GnomAD)
AT=0.00054/9 (TOMMO)
AT=0.00182/3 (Korea1K)
HGVS:: NC_000004.12:g.176219509AT[3], NC_000004.12:g.176219509AT[4], NC_000004.12:g.176219509AT[6], NC_000004.11:g.177140660AT[3], NC_000004.11:g.177140660AT[4], NC_000004.11:g.177140660AT[6]

Select item 149136629510.

rs1491366295 [Homo sapiens]

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

Select item 149133913911.

rs1491339139 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 4:176277659 (GRCh38)
4:177198811 (GRCh37)
Canonical SPDI:: NC_000004.12:176277659:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: ASB5 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
HGVS:: NC_000004.12:g.176277660_176277683T[44]CTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000004.11:g.177198811_177198834T[44]CTTTTTTTTTTTTTTTTTTTTTTTT[1]

Select item 149133853212.

rs1491338532 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CT [Show Flanks]
Chromosome:: 4:176232127 (GRCh38)
4:177153279 (GRCh37)
Canonical SPDI:: NC_000004.12:176232127:CT:CTCT
Gene:: ASB5 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
HGVS:: NC_000004.12:g.176232128_176232129dup, NC_000004.11:g.177153279_177153280dup

Select item 149133436713.

rs1491334367 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 4:176251564 (GRCh38)
4:177172715 (GRCh37)
Canonical SPDI:: NC_000004.12:176251563:TA:
Gene:: ASB5 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000004.12:g.176251564_176251565del, NC_000004.11:g.177172715_177172716del

Select item 149133108014.

rs1491331080 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 4:176219212 (GRCh38)
4:177140363 (GRCh37)
Canonical SPDI:: NC_000004.12:176219210:AGA:A
Gene:: ASB5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000245/4 (ALFA)
-=0.000077/1 (TOMMO)
-=0.000731/75 (GnomAD)
HGVS:: NC_000004.12:g.176219212_176219213del, NC_000004.11:g.177140363_177140364del

Select item 149131907215.

rs1491319072 [Homo sapiens]

Variant type:: INS
Alleles:: ->C,T [Show Flanks]
Chromosome:: 4:176218223 (GRCh38)
4:177139375 (GRCh37)
Canonical SPDI:: NC_000004.12:176218223::C,NC_000004.12:176218223::T
Gene:: ASB5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
T=0.00064/28 (GnomAD)
T=0.00536/87 (TOMMO)
T=0.00887/5 (NorthernSweden)
HGVS:: NC_000004.12:g.176218223_176218224insC, NC_000004.12:g.176218223_176218224insT, NC_000004.11:g.177139374_177139375insC, NC_000004.11:g.177139374_177139375insT

Select item 149131541416.

rs1491315414 [Homo sapiens]

Variant type:: DELINS
Alleles:: TC>- [Show Flanks]
Chromosome:: 4:176238205 (GRCh38)
4:177159356 (GRCh37)
Canonical SPDI:: NC_000004.12:176238202:TCTC:TC
Gene:: ASB5 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCTC=0.00017/2 (ALFA)
-=0.00031/23 (GnomAD)
HGVS:: NC_000004.12:g.176238203TC[1], NC_000004.11:g.177159354TC[1]

Select item 149129298817.

rs1491292988 has merged into rs1323208693 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>-,ATAT,ATATAT [Show Flanks]
Chromosome:: 4:176218500 (GRCh38)
4:177139651 (GRCh37)
Canonical SPDI:: NC_000004.12:176218491:ATATATATAT:ATATATAT,NC_000004.12:176218491:ATATATATAT:ATATATATATAT,NC_000004.12:176218491:ATATATATAT:ATATATATATATAT
Gene:: ASB5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATATATATAT=0./0 (ALFA)
HGVS:: NC_000004.12:g.176218492AT[4], NC_000004.12:g.176218492AT[6], NC_000004.12:g.176218492AT[7], NC_000004.11:g.177139643AT[4], NC_000004.11:g.177139643AT[6], NC_000004.11:g.177139643AT[7]

Select item 149127895018.

rs1491278950 has merged into rs61462981 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTT>-,T,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 4:176277673 (GRCh38)
4:177198824 (GRCh37)
Canonical SPDI:: NC_000004.12:176277658:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000004.12:176277658:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000004.12:176277658:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000004.12:176277658:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000004.12:176277658:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000004.12:176277658:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000004.12:176277658:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000004.12:176277658:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:176277658:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:176277658:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:176277658:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:176277658:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:176277658:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:176277658:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:176277658:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:176277658:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:176277658:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:176277658:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:176277658:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:176277658:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:176277658:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:176277658:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:176277658:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:176277658:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:176277658:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:176277658:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:176277658:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:176277658:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:176277658:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: ASB5 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000004.12:g.176277673_176277683del, NC_000004.12:g.176277674_176277683del, NC_000004.12:g.176277676_176277683del, NC_000004.12:g.176277677_176277683del, NC_000004.12:g.176277678_176277683del, NC_000004.12:g.176277679_176277683del, NC_000004.12:g.176277680_176277683del, NC_000004.12:g.176277681_176277683del, NC_000004.12:g.176277682_176277683del, NC_000004.12:g.176277683del, NC_000004.12:g.176277683dup, NC_000004.12:g.176277682_176277683dup, NC_000004.12:g.176277681_176277683dup, NC_000004.12:g.176277680_176277683dup, NC_000004.12:g.176277679_176277683dup, NC_000004.12:g.176277678_176277683dup, NC_000004.12:g.176277677_176277683dup, NC_000004.12:g.176277676_176277683dup, NC_000004.12:g.176277675_176277683dup, NC_000004.12:g.176277674_176277683dup, NC_000004.12:g.176277673_176277683dup, NC_000004.12:g.176277672_176277683dup, NC_000004.12:g.176277671_176277683dup, NC_000004.12:g.176277670_176277683dup, NC_000004.12:g.176277669_176277683dup, NC_000004.12:g.176277668_176277683dup, NC_000004.12:g.176277667_176277683dup, NC_000004.12:g.176277665_176277683dup, NC_000004.12:g.176277659_176277683dup, NC_000004.11:g.177198824_177198834del, NC_000004.11:g.177198825_177198834del, NC_000004.11:g.177198827_177198834del, NC_000004.11:g.177198828_177198834del, NC_000004.11:g.177198829_177198834del, NC_000004.11:g.177198830_177198834del, NC_000004.11:g.177198831_177198834del, NC_000004.11:g.177198832_177198834del, NC_000004.11:g.177198833_177198834del, NC_000004.11:g.177198834del, NC_000004.11:g.177198834dup, NC_000004.11:g.177198833_177198834dup, NC_000004.11:g.177198832_177198834dup, NC_000004.11:g.177198831_177198834dup, NC_000004.11:g.177198830_177198834dup, NC_000004.11:g.177198829_177198834dup, NC_000004.11:g.177198828_177198834dup, NC_000004.11:g.177198827_177198834dup, NC_000004.11:g.177198826_177198834dup, NC_000004.11:g.177198825_177198834dup, NC_000004.11:g.177198824_177198834dup, NC_000004.11:g.177198823_177198834dup, NC_000004.11:g.177198822_177198834dup, NC_000004.11:g.177198821_177198834dup, NC_000004.11:g.177198820_177198834dup, NC_000004.11:g.177198819_177198834dup, NC_000004.11:g.177198818_177198834dup, NC_000004.11:g.177198816_177198834dup, NC_000004.11:g.177198810_177198834dup

Select item 149122649219.

rs1491226492 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>-,ATAT [Show Flanks]
Chromosome:: 4:176219394 (GRCh38)
4:177140545 (GRCh37)
Canonical SPDI:: NC_000004.12:176219385:ATATATATAT:ATATATAT,NC_000004.12:176219385:ATATATATAT:ATATATATATAT
Gene:: ASB5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: ATATATAT=0.00076/9 (ALFA)
HGVS:: NC_000004.12:g.176219386AT[4], NC_000004.12:g.176219386AT[6], NC_000004.11:g.177140537AT[4], NC_000004.11:g.177140537AT[6]

Select item 149122583720.

rs1491225837 has merged into rs61462981 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTT>-,T,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 4:176277673 (GRCh38)
4:177198824 (GRCh37)
Canonical SPDI:: NC_000004.12:176277658:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000004.12:176277658:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000004.12:176277658:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000004.12:176277658:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000004.12:176277658:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000004.12:176277658:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000004.12:176277658:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000004.12:176277658:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:176277658:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:176277658:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:176277658:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:176277658:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:176277658:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:176277658:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:176277658:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:176277658:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:176277658:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:176277658:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:176277658:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:176277658:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:176277658:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:176277658:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:176277658:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:176277658:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:176277658:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:176277658:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:176277658:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:176277658:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:176277658:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: ASB5 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000004.12:g.176277673_176277683del, NC_000004.12:g.176277674_176277683del, NC_000004.12:g.176277676_176277683del, NC_000004.12:g.176277677_176277683del, NC_000004.12:g.176277678_176277683del, NC_000004.12:g.176277679_176277683del, NC_000004.12:g.176277680_176277683del, NC_000004.12:g.176277681_176277683del, NC_000004.12:g.176277682_176277683del, NC_000004.12:g.176277683del, NC_000004.12:g.176277683dup, NC_000004.12:g.176277682_176277683dup, NC_000004.12:g.176277681_176277683dup, NC_000004.12:g.176277680_176277683dup, NC_000004.12:g.176277679_176277683dup, NC_000004.12:g.176277678_176277683dup, NC_000004.12:g.176277677_176277683dup, NC_000004.12:g.176277676_176277683dup, NC_000004.12:g.176277675_176277683dup, NC_000004.12:g.176277674_176277683dup, NC_000004.12:g.176277673_176277683dup, NC_000004.12:g.176277672_176277683dup, NC_000004.12:g.176277671_176277683dup, NC_000004.12:g.176277670_176277683dup, NC_000004.12:g.176277669_176277683dup, NC_000004.12:g.176277668_176277683dup, NC_000004.12:g.176277667_176277683dup, NC_000004.12:g.176277665_176277683dup, NC_000004.12:g.176277659_176277683dup, NC_000004.11:g.177198824_177198834del, NC_000004.11:g.177198825_177198834del, NC_000004.11:g.177198827_177198834del, NC_000004.11:g.177198828_177198834del, NC_000004.11:g.177198829_177198834del, NC_000004.11:g.177198830_177198834del, NC_000004.11:g.177198831_177198834del, NC_000004.11:g.177198832_177198834del, NC_000004.11:g.177198833_177198834del, NC_000004.11:g.177198834del, NC_000004.11:g.177198834dup, NC_000004.11:g.177198833_177198834dup, NC_000004.11:g.177198832_177198834dup, NC_000004.11:g.177198831_177198834dup, NC_000004.11:g.177198830_177198834dup, NC_000004.11:g.177198829_177198834dup, NC_000004.11:g.177198828_177198834dup, NC_000004.11:g.177198827_177198834dup, NC_000004.11:g.177198826_177198834dup, NC_000004.11:g.177198825_177198834dup, NC_000004.11:g.177198824_177198834dup, NC_000004.11:g.177198823_177198834dup, NC_000004.11:g.177198822_177198834dup, NC_000004.11:g.177198821_177198834dup, NC_000004.11:g.177198820_177198834dup, NC_000004.11:g.177198819_177198834dup, NC_000004.11:g.177198818_177198834dup, NC_000004.11:g.177198816_177198834dup, NC_000004.11:g.177198810_177198834dup

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