SNP Links for Gene (Select 8692) - SNP

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Items: 1 to 20 of 1718

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Select item 14914274991.

rs1491427499 has merged into rs60819155 [Homo sapiens]

Variant type:: DELINS
Alleles:: GGGG>-,G,GG,GGG,GGGGG,GGGGGACGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG,GGGGGG,GGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG [Show Flanks]
Chromosome:: 3:50321825 (GRCh38)
3:50359256 (GRCh37)
Canonical SPDI:: NC_000003.12:50321815:GGGGGGGGGGGGG:GGGGGGGGG,NC_000003.12:50321815:GGGGGGGGGGGGG:GGGGGGGGGG,NC_000003.12:50321815:GGGGGGGGGGGGG:GGGGGGGGGGG,NC_000003.12:50321815:GGGGGGGGGGGGG:GGGGGGGGGGGG,NC_000003.12:50321815:GGGGGGGGGGGGG:GGGGGGGGGGGGGG,NC_000003.12:50321815:GGGGGGGGGGGGG:GGGGGGGGGGGGGGACGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG,NC_000003.12:50321815:GGGGGGGGGGGGG:GGGGGGGGGGGGGGG,NC_000003.12:50321815:GGGGGGGGGGGGG:GGGGGGGGGGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG
Gene:: HYAL2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGGGGGG=0./0 (ALFA)
GGG=0.4511/2259 (1000Genomes)
HGVS:: NC_000003.12:g.50321825_50321828del, NC_000003.12:g.50321826_50321828del, NC_000003.12:g.50321827_50321828del, NC_000003.12:g.50321828del, NC_000003.12:g.50321828dup, NC_000003.12:g.50321816_50321828G[14]ACGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG[1], NC_000003.12:g.50321827_50321828dup, NC_000003.12:g.50321816_50321828G[14]TGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG[1], NW_003871059.1:g.91673_91676del, NW_003871059.1:g.91674_91676del, NW_003871059.1:g.91675_91676del, NW_003871059.1:g.91676del, NW_003871059.1:g.91676dup, NW_003871059.1:g.91664_91676G[14]ACGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG[1], NW_003871059.1:g.91675_91676dup, NW_003871059.1:g.91664_91676G[14]TGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG[1], NC_000003.11:g.50359256_50359259del, NC_000003.11:g.50359257_50359259del, NC_000003.11:g.50359258_50359259del, NC_000003.11:g.50359259del, NC_000003.11:g.50359259dup, NC_000003.11:g.50359247_50359259G[14]ACGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG[1], NC_000003.11:g.50359258_50359259dup, NC_000003.11:g.50359247_50359259G[14]TGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG[1]

Select item 14913465532.

rs1491346553 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 3:50321815 (GRCh38)
3:50359246 (GRCh37)
Canonical SPDI:: NC_000003.12:50321814:AG:
Gene:: HYAL2 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00008/1 (ALFA)
-=0.00015/4 (TOMMO)
-=0.00185/8 (GnomAD)
HGVS:: NC_000003.12:g.50321815_50321816del, NW_003871059.1:g.91663_91664del, NC_000003.11:g.50359246_50359247del

Select item 14908020343.

rs1490802034 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:50320736 (GRCh38)
3:50358167 (GRCh37)
Canonical SPDI:: NC_000003.12:50320735:A:G
Gene:: HYAL2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000003.12:g.50320736A>G, NW_003871059.1:g.90584A>G, NC_000003.11:g.50358167A>G

Select item 14907870194.

rs1490787019 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 3:50319688 (GRCh38)
3:50357119 (GRCh37)
Canonical SPDI:: NC_000003.12:50319687:C:A,NC_000003.12:50319687:C:G
Gene:: HYAL2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.50319688C>A, NC_000003.12:g.50319688C>G, NW_003871059.1:g.89536C>A, NW_003871059.1:g.89536C>G, NC_000003.11:g.50357119C>A, NC_000003.11:g.50357119C>G, NM_033158.5:c.802G>T, NM_033158.5:c.802G>C, NM_033158.4:c.802G>T, NM_033158.4:c.802G>C, NM_003773.5:c.802G>T, NM_003773.5:c.802G>C, NM_003773.4:c.802G>T, NM_003773.4:c.802G>C, XM_005265525.3:c.802G>T, XM_005265525.3:c.802G>C, XM_005265525.2:c.802G>T, XM_005265525.2:c.802G>C, XM_005265525.1:c.802G>T, XM_005265525.1:c.802G>C, XM_005265524.3:c.802G>T, XM_005265524.3:c.802G>C, XM_005265524.2:c.802G>T, XM_005265524.2:c.802G>C, XM_005265524.1:c.802G>T, XM_005265524.1:c.802G>C, NP_149348.2:p.Val268Leu, NP_149348.2:p.Val268Leu, NP_003764.3:p.Val268Leu, NP_003764.3:p.Val268Leu, XP_005265582.1:p.Val268Leu, XP_005265582.1:p.Val268Leu, XP_005265581.1:p.Val268Leu, XP_005265581.1:p.Val268Leu

Select item 14898705675.

rs1489870567 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:50321880 (GRCh38)
3:50359311 (GRCh37)
Canonical SPDI:: NC_000003.12:50321879:C:T
Gene:: HYAL2 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.50321880C>T, NW_003871059.1:g.91728C>T, NC_000003.11:g.50359311C>T

Select item 14898201416.

rs1489820141 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 3:50321422 (GRCh38)
3:50358853 (GRCh37)
Canonical SPDI:: NC_000003.12:50321421:C:A,NC_000003.12:50321421:C:G
Gene:: HYAL2 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
A=0.000014/2 (GnomAD)
HGVS:: NC_000003.12:g.50321422C>A, NC_000003.12:g.50321422C>G, NW_003871059.1:g.91270C>A, NW_003871059.1:g.91270C>G, NC_000003.11:g.50358853C>A, NC_000003.11:g.50358853C>G, NM_033158.5:c.-103G>T, NM_033158.5:c.-103G>C, NM_033158.4:c.-103G>T, NM_033158.4:c.-103G>C, XM_005265525.3:c.-587G>T, XM_005265525.3:c.-587G>C

Select item 14891291477.

rs1489129147 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 3:50321799 (GRCh38)
3:50359230 (GRCh37)
Canonical SPDI:: NC_000003.12:50321798:A:T
Gene:: HYAL2 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.00004/1 (TOMMO)
HGVS:: NC_000003.12:g.50321799A>T, NW_003871059.1:g.91647A>T, NC_000003.11:g.50359230A>T

Select item 14883297138.

rs1488329713 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 3:50322382 (GRCh38)
3:50359813 (GRCh37)
Canonical SPDI:: NC_000003.12:50322381:A:C
Gene:: HYAL2 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.50322382A>C, NW_003871059.1:g.92230A>C, NC_000003.11:g.50359813A>C

Select item 14875704879.

rs1487570487 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 3:50322358 (GRCh38)
3:50359789 (GRCh37)
Canonical SPDI:: NC_000003.12:50322357:G:C
Gene:: HYAL2 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.50322358G>C, NW_003871059.1:g.92206G>C, NC_000003.11:g.50359789G>C

Select item 148739317610.

rs1487393176 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 3:50320626 (GRCh38)
3:50358058 (GRCh37)
Canonical SPDI:: NC_000003.12:50320626:T:TT
Gene:: HYAL2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.50320627dup, NW_003871059.1:g.90475dup, NC_000003.11:g.50358058dup

Select item 148646203211.

rs1486462032 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:50317537 (GRCh38)
3:50354968 (GRCh37)
Canonical SPDI:: NC_000003.12:50317536:C:T
Gene:: HYAL2 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
T=0.000035/1 (TOMMO)
HGVS:: NC_000003.12:g.50317537C>T, NW_003871059.1:g.87385C>T, NC_000003.11:g.50354968C>T

Select item 148636602212.

rs1486366022 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:50323294 (GRCh38)
3:50360725 (GRCh37)
Canonical SPDI:: NC_000003.12:50323293:G:A
Gene:: HYAL2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.50323294G>A, NW_003871059.1:g.93142G>A, NC_000003.11:g.50360725G>A

Select item 148603147813.

rs1486031478 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAAG>- [Show Flanks]
Chromosome:: 3:50323816 (GRCh38)
3:50361247 (GRCh37)
Canonical SPDI:: NC_000003.12:50323809:AGGAAGGAAG:AGGAAG
Gene:: HYAL2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: AGGAAG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.50323812GAAG[1], NW_003871059.1:g.93660GAAG[1], NC_000003.11:g.50361243GAAG[1]

Select item 148561018214.

rs1485610182 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:50323893 (GRCh38)
3:50361324 (GRCh37)
Canonical SPDI:: NC_000003.12:50323892:G:A
Gene:: HYAL2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000003.12:g.50323893G>A, NW_003871059.1:g.93741G>A, NC_000003.11:g.50361324G>A

Select item 148541102815.

rs1485411028 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:50321350 (GRCh38)
3:50358781 (GRCh37)
Canonical SPDI:: NC_000003.12:50321349:C:T
Gene:: HYAL2 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_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_000003.12:g.50321350C>T, NW_003871059.1:g.91198C>T, NC_000003.11:g.50358781C>T, XM_005265525.3:c.-515G>A

Select item 148524080616.

rs1485240806 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 3:50317841 (GRCh38)
3:50355272 (GRCh37)
Canonical SPDI:: NC_000003.12:50317840:C:A
Gene:: HYAL2 (Varview)
Functional Consequence:: 3_prime_UTR_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_000003.12:g.50317841C>A, NW_003871059.1:g.87689C>A, NC_000003.11:g.50355272C>A, NM_033158.5:c.*288G>T, NM_033158.4:c.*288G>T, NM_003773.5:c.*288G>T, NM_003773.4:c.*288G>T, XM_005265525.3:c.*288G>T, XM_005265525.2:c.*288G>T, XM_005265525.1:c.*288G>T, XM_005265524.3:c.*288G>T, XM_005265524.2:c.*288G>T, XM_005265524.1:c.*288G>T

Select item 148479370317.

rs1484793703 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 3:50317343 (GRCh38)
3:50354774 (GRCh37)
Canonical SPDI:: NC_000003.12:50317342:C:A
Gene:: HYAL2 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.50317343C>A, NW_003871059.1:g.87191C>A, NG_009295.1:g.39G>T, NC_000003.11:g.50354774C>A

Select item 148454973418.

rs1484549734 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:50319420 (GRCh38)
3:50356851 (GRCh37)
Canonical SPDI:: NC_000003.12:50319419:C:T
Gene:: HYAL2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.50319420C>T, NW_003871059.1:g.89268C>T, NC_000003.11:g.50356851C>T

Select item 148439520819.

rs1484395208 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:50324316 (GRCh38)
3:50361747 (GRCh37)
Canonical SPDI:: NC_000003.12:50324315:G:A
Gene:: HYAL2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.00003/8 (TOPMED)
A=0.000064/9 (GnomAD)
G=0.5/1 (SGDP_PRJ)
HGVS:: NC_000003.12:g.50324316G>A, NW_003871059.1:g.94164G>A, NC_000003.11:g.50361747G>A

Select item 148350783720.

rs1483507837 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:50322869 (GRCh38)
3:50360300 (GRCh37)
Canonical SPDI:: NC_000003.12:50322868:G:A
Gene:: HYAL2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_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_000003.12:g.50322869G>A, NW_003871059.1:g.92717G>A, NC_000003.11:g.50360300G>A

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