SNP Links for Gene (Select 84514) - SNP

Links from Gene

Items: 1 to 20 of 2002

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Select item 14912855961.

rs1491285596 has merged into rs978894964 [Homo sapiens]

Variant type:: DELINS
Alleles:: TGTTTTT>-,TGTTTTTTGTTTTT [Show Flanks]
Chromosome:: 17:42196111 (GRCh38)
17:40348129 (GRCh37)
Canonical SPDI:: NC_000017.11:42196098:TTTTTTGTTTTTTGTTTTT:TTTTTTGTTTTT,NC_000017.11:42196098:TTTTTTGTTTTTTGTTTTT:TTTTTTGTTTTTTGTTTTTTGTTTTT
Gene:: GHDC (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTGTTTTTTGTTTTTTGTTTTT=0./0 (ALFA)
HGVS:: NC_000017.11:g.42196104TGTTTTT[1], NC_000017.11:g.42196104TGTTTTT[3], NC_000017.10:g.40348122TGTTTTT[1], NC_000017.10:g.40348122TGTTTTT[3]

Select item 14905660462.

rs1490566046 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:42192864 (GRCh38)
17:40344882 (GRCh37)
Canonical SPDI:: NC_000017.11:42192863:C:T
Gene:: GHDC (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.42192864C>T, NC_000017.10:g.40344882C>T

Select item 14903669773.

rs1490366977 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:42195293 (GRCh38)
17:40347311 (GRCh37)
Canonical SPDI:: NC_000017.11:42195292:A:G
Gene:: GHDC (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000017.11:g.42195293A>G, NC_000017.10:g.40347311A>G

Select item 14902518264.

rs1490251826 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:42195283 (GRCh38)
17:40347301 (GRCh37)
Canonical SPDI:: NC_000017.11:42195282:C:T
Gene:: GHDC (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
HGVS:: NC_000017.11:g.42195283C>T, NC_000017.10:g.40347301C>T

Select item 14902311045.

rs1490231104 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:42193720 (GRCh38)
17:40345738 (GRCh37)
Canonical SPDI:: NC_000017.11:42193719:C:T
Gene:: GHDC (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.000084/1 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.42193720C>T, NC_000017.10:g.40345738C>T

Select item 14898141586.

rs1489814158 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:42193387 (GRCh38)
17:40345405 (GRCh37)
Canonical SPDI:: NC_000017.11:42193386:G:A
Gene:: GHDC (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000017.11:g.42193387G>A, NC_000017.10:g.40345405G>A, NM_032484.5:c.195C>T, NM_032484.4:c.195C>T, NM_001142623.2:c.195C>T, NM_001142623.1:c.195C>T, NR_024573.1:n.679C>T, NM_001136048.1:c.195C>T, NM_001142622.1:c.195C>T

Select item 14892540217.

rs1489254021 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:42195984 (GRCh38)
17:40348002 (GRCh37)
Canonical SPDI:: NC_000017.11:42195983:C:G
Gene:: GHDC (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
HGVS:: NC_000017.11:g.42195984C>G, NC_000017.10:g.40348002C>G

Select item 14891430948.

rs1489143094 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:42190539 (GRCh38)
17:40342557 (GRCh37)
Canonical SPDI:: NC_000017.11:42190538:T:C
Gene:: GHDC (Varview)
Functional Consequence:: intron_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_000017.11:g.42190539T>C, NC_000017.10:g.40342557T>C

Select item 14884154109.

rs1488415410 has merged into rs918949516 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,TTT,TTTTT [Show Flanks]
Chromosome:: 17:42195702 (GRCh38)
17:40347720 (GRCh37)
Canonical SPDI:: NC_000017.11:42195696:TTTTTTTTT:TTTTT,NC_000017.11:42195696:TTTTTTTTT:TTTTTTTT,NC_000017.11:42195696:TTTTTTTTT:TTTTTTTTTT
Gene:: GHDC (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTT=0./0 (ALFA)
T=0.00007/1 (TOMMO)
HGVS:: NC_000017.11:g.42195702_42195705del, NC_000017.11:g.42195705del, NC_000017.11:g.42195705dup, NC_000017.10:g.40347720_40347723del, NC_000017.10:g.40347723del, NC_000017.10:g.40347723dup

Select item 148731549210.

rs1487315492 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:42196285 (GRCh38)
17:40348303 (GRCh37)
Canonical SPDI:: NC_000017.11:42196284:C:T
Gene:: GHDC (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.42196285C>T, NC_000017.10:g.40348303C>T

Select item 148681748511.

rs1486817485 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 17:42194553 (GRCh38)
17:40346571 (GRCh37)
Canonical SPDI:: NC_000017.11:42194552:A:G,NC_000017.11:42194552:A:T
Gene:: GHDC (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000017.11:g.42194553A>G, NC_000017.11:g.42194553A>T, NC_000017.10:g.40346571A>G, NC_000017.10:g.40346571A>T

Select item 148672923212.

rs1486729232 has merged into rs71357532 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTT>-,T,TTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 17:42191769 (GRCh38)
17:40343787 (GRCh37)
Canonical SPDI:: NC_000017.11:42191758:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000017.11:42191758:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000017.11:42191758:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000017.11:42191758:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000017.11:42191758:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000017.11:42191758:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000017.11:42191758:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000017.11:42191758:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000017.11:42191758:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000017.11:42191758:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:42191758:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:42191758:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:42191758:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:42191758:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:42191758:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:42191758:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:42191758:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: GHDC (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000017.11:g.42191769_42191780del, NC_000017.11:g.42191770_42191780del, NC_000017.11:g.42191772_42191780del, NC_000017.11:g.42191774_42191780del, NC_000017.11:g.42191776_42191780del, NC_000017.11:g.42191777_42191780del, NC_000017.11:g.42191778_42191780del, NC_000017.11:g.42191779_42191780del, NC_000017.11:g.42191780del, NC_000017.11:g.42191780dup, NC_000017.11:g.42191779_42191780dup, NC_000017.11:g.42191778_42191780dup, NC_000017.11:g.42191777_42191780dup, NC_000017.11:g.42191776_42191780dup, NC_000017.11:g.42191775_42191780dup, NC_000017.11:g.42191771_42191780dup, NC_000017.11:g.42191780_42191781insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.10:g.40343787_40343798del, NC_000017.10:g.40343788_40343798del, NC_000017.10:g.40343790_40343798del, NC_000017.10:g.40343792_40343798del, NC_000017.10:g.40343794_40343798del, NC_000017.10:g.40343795_40343798del, NC_000017.10:g.40343796_40343798del, NC_000017.10:g.40343797_40343798del, NC_000017.10:g.40343798del, NC_000017.10:g.40343798dup, NC_000017.10:g.40343797_40343798dup, NC_000017.10:g.40343796_40343798dup, NC_000017.10:g.40343795_40343798dup, NC_000017.10:g.40343794_40343798dup, NC_000017.10:g.40343793_40343798dup, NC_000017.10:g.40343789_40343798dup, NC_000017.10:g.40343798_40343799insTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 148633673513.

rs1486336735 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:42191709 (GRCh38)
17:40343727 (GRCh37)
Canonical SPDI:: NC_000017.11:42191708:C:T
Gene:: GHDC (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_000017.11:g.42191709C>T, NC_000017.10:g.40343727C>T

Select item 148595541714.

rs1485955417 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 17:42194370 (GRCh38)
17:40346389 (GRCh37)
Canonical SPDI:: NC_000017.11:42194370:T:TT
Gene:: GHDC (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.42194371dup, NC_000017.10:g.40346389dup

Select item 148582457615.

rs1485824576 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:42189968 (GRCh38)
17:40341986 (GRCh37)
Canonical SPDI:: NC_000017.11:42189967:G:A
Gene:: GHDC (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000017.11:g.42189968G>A, NC_000017.10:g.40341986G>A, NG_011448.1:g.485C>T

Select item 148551461316.

rs1485514613 [Homo sapiens]

Variant type:: DELINS
Alleles:: AG>- [Show Flanks]
Chromosome:: 17:42190382 (GRCh38)
17:40342400 (GRCh37)
Canonical SPDI:: NC_000017.11:42190379:AGAG:AG
Gene:: GHDC (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.42190380AG[1], NC_000017.10:g.40342398AG[1], NG_011448.1:g.70CT[1]

Select item 148548850217.

rs1485488502 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 17:42189671 (GRCh38)
17:40341689 (GRCh37)
Canonical SPDI:: NC_000017.11:42189670:GGGGGG:GGGGG
Gene:: GHDC (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by cluster
MAF:: -=0.00007/1 (TOMMO)
HGVS:: NC_000017.11:g.42189676del, NC_000017.10:g.40341694del, NG_011448.1:g.782del, NM_032484.5:c.*32del, NM_032484.4:c.*32del, NM_001142623.2:c.*289del, NM_001142623.1:c.*289del, NR_024573.1:n.2109del, NM_001136048.1:c.*32del, NM_001142622.1:c.*32del

Select item 148448694418.

rs1484486944 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:42193919 (GRCh38)
17:40345937 (GRCh37)
Canonical SPDI:: NC_000017.11:42193918:T:C
Gene:: GHDC (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.42193919T>C, NC_000017.10:g.40345937T>C, NR_024573.1:n.319A>G

Select item 148355606419.

rs1483556064 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:42192603 (GRCh38)
17:40344621 (GRCh37)
Canonical SPDI:: NC_000017.11:42192602:G:A
Gene:: GHDC (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.42192603G>A, NC_000017.10:g.40344621G>A, NM_032484.5:c.527C>T, NM_032484.4:c.527C>T, NM_001142623.2:c.527C>T, NM_001142623.1:c.527C>T, NR_024573.1:n.1011C>T, NM_001136048.1:c.527C>T, NM_001142622.1:c.410C>T, NP_115873.1:p.Thr176Ile, NP_001136095.1:p.Thr176Ile

Select item 148354653020.

rs1483546530 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:42189525 (GRCh38)
17:40341543 (GRCh37)
Canonical SPDI:: NC_000017.11:42189524:C:T
Gene:: GHDC (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000017.11:g.42189525C>T, NC_000017.10:g.40341543C>T, NG_011448.1:g.928G>A, NM_032484.5:c.*178G>A, NM_032484.4:c.*178G>A, NM_001142623.2:c.*435G>A, NM_001142623.1:c.*435G>A, NR_024573.1:n.2255G>A, NM_001136048.1:c.*178G>A, NM_001142622.1:c.*178G>A

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Items: 1 to 20 of 2002

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