SNP Links for Gene (Select 101928177) - SNP

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Select item 14913355991.

rs1491335599 has merged into rs57219264 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 1:156618315 (GRCh38)
1:156588107 (GRCh37)
Canonical SPDI:: NC_000001.11:156618305:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000001.11:156618305:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000001.11:156618305:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:156618305:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:156618305:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:156618305:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:156618305:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:156618305:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:156618305:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:156618305:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:156618305:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:156618305:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:156618305:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:156618305:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:156618305:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: HAPLN2 (Varview), LOC101928177 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
AAAAAA=0.2835/1420 (1000Genomes)
HGVS:: NC_000001.11:g.156618315_156618325del, NC_000001.11:g.156618317_156618325del, NC_000001.11:g.156618318_156618325del, NC_000001.11:g.156618319_156618325del, NC_000001.11:g.156618320_156618325del, NC_000001.11:g.156618321_156618325del, NC_000001.11:g.156618323_156618325del, NC_000001.11:g.156618324_156618325del, NC_000001.11:g.156618325del, NC_000001.11:g.156618325dup, NC_000001.11:g.156618324_156618325dup, NC_000001.11:g.156618323_156618325dup, NC_000001.11:g.156618322_156618325dup, NC_000001.11:g.156618321_156618325dup, NC_000001.11:g.156618316_156618325dup, NC_000001.10:g.156588107_156588117del, NC_000001.10:g.156588109_156588117del, NC_000001.10:g.156588110_156588117del, NC_000001.10:g.156588111_156588117del, NC_000001.10:g.156588112_156588117del, NC_000001.10:g.156588113_156588117del, NC_000001.10:g.156588115_156588117del, NC_000001.10:g.156588116_156588117del, NC_000001.10:g.156588117del, NC_000001.10:g.156588117dup, NC_000001.10:g.156588116_156588117dup, NC_000001.10:g.156588115_156588117dup, NC_000001.10:g.156588114_156588117dup, NC_000001.10:g.156588113_156588117dup, NC_000001.10:g.156588108_156588117dup, NW_025791758.1:g.176874_176884del, NW_025791758.1:g.176876_176884del, NW_025791758.1:g.176877_176884del, NW_025791758.1:g.176878_176884del, NW_025791758.1:g.176879_176884del, NW_025791758.1:g.176880_176884del, NW_025791758.1:g.176882_176884del, NW_025791758.1:g.176883_176884del, NW_025791758.1:g.176884del, NW_025791758.1:g.176884dup, NW_025791758.1:g.176883_176884dup, NW_025791758.1:g.176882_176884dup, NW_025791758.1:g.176881_176884dup, NW_025791758.1:g.176880_176884dup, NW_025791758.1:g.176875_176884dup

Select item 14912328502.

rs1491232850 has merged into rs770223466 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTT>-,T,TT,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT [Show Flanks]
Chromosome:: 1:156615584 (GRCh38)
1:156585376 (GRCh37)
Canonical SPDI:: NC_000001.11:156615572:TTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000001.11:156615572:TTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:156615572:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:156615572:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:156615572:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:156615572:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:156615572:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:156615572:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT
Gene:: HAPLN2 (Varview), LOC101928177 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTT=0./0 (ALFA)
-=0.01698/9 (NorthernSweden)
-=0.1/4 (GENOME_DK)
HGVS:: NC_000001.11:g.156615584_156615588del, NC_000001.11:g.156615585_156615588del, NC_000001.11:g.156615586_156615588del, NC_000001.11:g.156615587_156615588del, NC_000001.11:g.156615588del, NC_000001.11:g.156615588dup, NC_000001.11:g.156615587_156615588dup, NC_000001.11:g.156615586_156615588dup, NC_000001.10:g.156585376_156585380del, NC_000001.10:g.156585377_156585380del, NC_000001.10:g.156585378_156585380del, NC_000001.10:g.156585379_156585380del, NC_000001.10:g.156585380del, NC_000001.10:g.156585380dup, NC_000001.10:g.156585379_156585380dup, NC_000001.10:g.156585378_156585380dup, NW_025791758.1:g.174143_174147del, NW_025791758.1:g.174144_174147del, NW_025791758.1:g.174145_174147del, NW_025791758.1:g.174146_174147del, NW_025791758.1:g.174147del, NW_025791758.1:g.174147dup, NW_025791758.1:g.174146_174147dup, NW_025791758.1:g.174145_174147dup

Select item 14912276373.

rs1491227637 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 1:156618778 (GRCh38)
1:156588570 (GRCh37)
Canonical SPDI:: NC_000001.11:156618777:CA:
Gene:: HAPLN2 (Varview), LOC101928177 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000001.11:g.156618778_156618779del, NC_000001.10:g.156588570_156588571del, NW_025791758.1:g.177337_177338del

Select item 14912005924.

rs1491200592 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 1:156615573 (GRCh38)
1:156585366 (GRCh37)
Canonical SPDI:: NC_000001.11:156615573::C
Gene:: HAPLN2 (Varview), LOC101928177 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.00396/47 (ALFA)
C=0.00576/544 (GnomAD)
HGVS:: NC_000001.11:g.156615573_156615574insC, NC_000001.10:g.156585365_156585366insC, NW_025791758.1:g.174132_174133insC

Select item 14908710365.

rs1490871036 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:156615739 (GRCh38)
1:156585531 (GRCh37)
Canonical SPDI:: NC_000001.11:156615738:T:C
Gene:: HAPLN2 (Varview), LOC101928177 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.156615739T>C, NC_000001.10:g.156585531T>C, NW_025791758.1:g.174298T>C

Select item 14902406586.

rs1490240658 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:156621921 (GRCh38)
1:156591713 (GRCh37)
Canonical SPDI:: NC_000001.11:156621920:G:C
Gene:: HAPLN2 (Varview), LOC101928177 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.156621921G>C, NC_000001.10:g.156591713G>C, NW_025791758.1:g.180480G>C, NR_135113.1:n.8C>G

Select item 14901258097.

rs1490125809 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:156621610 (GRCh38)
1:156591402 (GRCh37)
Canonical SPDI:: NC_000001.11:156621609:G:A
Gene:: HAPLN2 (Varview), LOC101928177 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.156621610G>A, NC_000001.10:g.156591402G>A, NW_025791758.1:g.180169G>A

Select item 14900047438.

rs1490004743 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:156621442 (GRCh38)
1:156591234 (GRCh37)
Canonical SPDI:: NC_000001.11:156621441:G:A
Gene:: HAPLN2 (Varview), LOC101928177 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000036/5 (GnomAD)
A=0.000053/14 (TOPMED)
HGVS:: NC_000001.11:g.156621442G>A, NC_000001.10:g.156591234G>A, NW_025791758.1:g.180001G>A

Select item 14899983179.

rs1489998317 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:156622885 (GRCh38)
1:156592677 (GRCh37)
Canonical SPDI:: NC_000001.11:156622884:T:C
Gene:: HAPLN2 (Varview), LOC101928177 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: C=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.156622885T>C, NC_000001.10:g.156592677T>C, NW_025791758.1:g.181444T>C

Select item 148966968610.

rs1489669686 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:156616730 (GRCh38)
1:156586522 (GRCh37)
Canonical SPDI:: NC_000001.11:156616729:G:A
Gene:: HAPLN2 (Varview), LOC101928177 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.156616730G>A, NC_000001.10:g.156586522G>A, NW_025791758.1:g.175289G>A

Select item 148957225011.

rs1489572250 [Homo sapiens]

Variant type:: INS
Alleles:: ->TAGAGGGAGCTTCT [Show Flanks]
Chromosome:: 1:156620143 (GRCh38)
1:156589936 (GRCh37)
Canonical SPDI:: NC_000001.11:156620143::TAGAGGGAGCTTCT
Gene:: HAPLN2 (Varview), LOC101928177 (Varview)
Functional Consequence:: frameshift_variant,intron_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency
MAF:: TAGAGGGAGCTTCT=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.156620143_156620144insTAGAGGGAGCTTCT, NC_000001.10:g.156589935_156589936insTAGAGGGAGCTTCT, NW_025791758.1:g.178702_178703insTAGAGGGAGCTTCT, NM_021817.3:c.-40_-39insTAGAGGGAGCTTCT, NM_021817.2:c.-40_-39insTAGAGGGAGCTTCT, XM_011509853.3:c.-40_-39insTAGAGGGAGCTTCT, XM_011509853.2:c.-40_-39insTAGAGGGAGCTTCT, XM_011509853.1:c.-40_-39insTAGAGGGAGCTTCT, XM_017002020.2:c.-40_-39insTAGAGGGAGCTTCT, XM_017002020.1:c.-40_-39insTAGAGGGAGCTTCT, XM_047427123.1:c.203_204insTAGAGGGAGCTTCT, XP_047283079.1:p.Arg68fs

Select item 148873983312.

rs1488739833 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>- [Show Flanks]
Chromosome:: 1:156620786 (GRCh38)
1:156590578 (GRCh37)
Canonical SPDI:: NC_000001.11:156620784:AAA:A
Gene:: HAPLN2 (Varview), LOC101928177 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.156620786_156620787del, NC_000001.10:g.156590578_156590579del, NW_025791758.1:g.179345_179346del

Select item 148851298413.

rs1488512984 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:156619053 (GRCh38)
1:156588845 (GRCh37)
Canonical SPDI:: NC_000001.11:156619052:G:A
Gene:: HAPLN2 (Varview), LOC101928177 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000216/4 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
A=0.000893/4 (Estonian)
HGVS:: NC_000001.11:g.156619053G>A, NC_000001.10:g.156588845G>A, NW_025791758.1:g.177612G>A

Select item 148818356814.

rs1488183568 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C,G [Show Flanks]
Chromosome:: 1:156618327 (GRCh38)
1:156588119 (GRCh37)
Canonical SPDI:: NC_000001.11:156618326:T:A,NC_000001.11:156618326:T:C,NC_000001.11:156618326:T:G
Gene:: HAPLN2 (Varview), LOC101928177 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.00012/2 (ALFA)
C=0.00001/1 (GnomAD)
A=0.00014/4 (TOMMO)
G=0.00925/27 (KOREAN)
HGVS:: NC_000001.11:g.156618327T>A, NC_000001.11:g.156618327T>C, NC_000001.11:g.156618327T>G, NC_000001.10:g.156588119T>A, NC_000001.10:g.156588119T>C, NC_000001.10:g.156588119T>G, NW_025791758.1:g.176886T>A, NW_025791758.1:g.176886T>C, NW_025791758.1:g.176886T>G

Select item 148809386715.

rs1488093867 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:156619590 (GRCh38)
1:156589382 (GRCh37)
Canonical SPDI:: NC_000001.11:156619589:C:T
Gene:: HAPLN2 (Varview), LOC101928177 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.156619590C>T, NC_000001.10:g.156589382C>T, NW_025791758.1:g.178149C>T

Select item 148762719216.

rs1487627192 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:156618300 (GRCh38)
1:156588092 (GRCh37)
Canonical SPDI:: NC_000001.11:156618299:T:C
Gene:: HAPLN2 (Varview), LOC101928177 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: C=0.00006/4 (GnomAD)
C=0.00085/24 (TOMMO)
C=0.00167/7 (Estonian)
HGVS:: NC_000001.11:g.156618300T>C, NC_000001.10:g.156588092T>C, NW_025791758.1:g.176859T>C

Select item 148756625717.

rs1487566257 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 1:156616613 (GRCh38)
1:156586405 (GRCh37)
Canonical SPDI:: NC_000001.11:156616612:G:A,NC_000001.11:156616612:G:T
Gene:: HAPLN2 (Varview), LOC101928177 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000001.11:g.156616613G>A, NC_000001.11:g.156616613G>T, NC_000001.10:g.156586405G>A, NC_000001.10:g.156586405G>T, NW_025791758.1:g.175172G>A, NW_025791758.1:g.175172G>T

Select item 148734037118.

rs1487340371 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:156615613 (GRCh38)
1:156585405 (GRCh37)
Canonical SPDI:: NC_000001.11:156615612:C:G
Gene:: HAPLN2 (Varview), LOC101928177 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_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_000001.11:g.156615613C>G, NC_000001.10:g.156585405C>G, NW_025791758.1:g.174172C>G

Select item 148723598419.

rs1487235984 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:156615330 (GRCh38)
1:156585122 (GRCh37)
Canonical SPDI:: NC_000001.11:156615329:G:A
Gene:: HAPLN2 (Varview), LOC101928177 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.156615330G>A, NC_000001.10:g.156585122G>A, NW_025791758.1:g.173889G>A

Select item 148658766920.

rs1486587669 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:156618038 (GRCh38)
1:156587830 (GRCh37)
Canonical SPDI:: NC_000001.11:156618037:T:G
Gene:: HAPLN2 (Varview), LOC101928177 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000014/2 (GnomAD)
G=0.000023/6 (TOPMED)
HGVS:: NC_000001.11:g.156618038T>G, NC_000001.10:g.156587830T>G, NW_025791758.1:g.176597T>G

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