SNP Links for Gene (Select 284293) - SNP

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Select item 14915421311.

rs1491542131 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 18:63963120 (GRCh38)
18:61630355 (GRCh37)
Canonical SPDI:: NC_000018.10:63963120:C:CC
Gene:: HMSD (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: CC=0./0 (ALFA)
HGVS:: NC_000018.10:g.63963121dup, NC_000018.9:g.61630355dup

Select item 14914862472.

rs1491486247 has merged into rs200454737 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT [Show Flanks]
Chromosome:: 18:63961210 (GRCh38)
18:61628444 (GRCh37)
Canonical SPDI:: NC_000018.10:63961199:TTTTTTTTTTTT:TTTTTTTTTT,NC_000018.10:63961199:TTTTTTTTTTTT:TTTTTTTTTTT,NC_000018.10:63961199:TTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000018.10:63961199:TTTTTTTTTTTT:TTTTTTTTTTTTTT
Gene:: HMSD (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000018.10:g.63961210_63961211del, NC_000018.10:g.63961211del, NC_000018.10:g.63961211dup, NC_000018.10:g.63961210_63961211dup, NC_000018.9:g.61628444_61628445del, NC_000018.9:g.61628445del, NC_000018.9:g.61628445dup, NC_000018.9:g.61628444_61628445dup, NG_027807.1:g.16857_16858del, NG_027807.1:g.16858del, NG_027807.1:g.16858dup, NG_027807.1:g.16857_16858dup, NM_001123366.2:c.*855_*856del, NM_001123366.2:c.*856del, NM_001123366.2:c.*856dup, NM_001123366.2:c.*855_*856dup

Select item 14914820953.

rs1491482095 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 18:63963104 (GRCh38)
18:61630339 (GRCh37)
Canonical SPDI:: NC_000018.10:63963104:C:CC
Gene:: HMSD (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: CC=0./0 (ALFA)
HGVS:: NC_000018.10:g.63963105dup, NC_000018.9:g.61630339dup

Select item 14914731464.

rs1491473146 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 18:63963112 (GRCh38)
18:61630347 (GRCh37)
Canonical SPDI:: NC_000018.10:63963112:C:CC
Gene:: HMSD (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: CC=0./0 (ALFA)
HGVS:: NC_000018.10:g.63963113dup, NC_000018.9:g.61630347dup

Select item 14914342465.

rs1491434246 has merged into rs1434935293 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>-,CTCT [Show Flanks]
Chromosome:: 18:63963125 (GRCh38)
18:61630359 (GRCh37)
Canonical SPDI:: NC_000018.10:63963123:TCT:T,NC_000018.10:63963123:TCT:TCTCT
Gene:: HMSD (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCTCT=0./0 (ALFA)
HGVS:: NC_000018.10:g.63963125_63963126del, NC_000018.10:g.63963125_63963126dup, NC_000018.9:g.61630359_61630360del, NC_000018.9:g.61630359_61630360dup

Select item 14914069756.

rs1491406975 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 18:63963116 (GRCh38)
18:61630351 (GRCh37)
Canonical SPDI:: NC_000018.10:63963116:C:CC
Gene:: HMSD (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: CC=0./0 (ALFA)
HGVS:: NC_000018.10:g.63963117dup, NC_000018.9:g.61630351dup

Select item 14913854487.

rs1491385448 has merged into rs1215545649 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>-,CTCT [Show Flanks]
Chromosome:: 18:63963113 (GRCh38)
18:61630347 (GRCh37)
Canonical SPDI:: NC_000018.10:63963111:TCT:T,NC_000018.10:63963111:TCT:TCTCT
Gene:: HMSD (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCTCT=0./0 (ALFA)
HGVS:: NC_000018.10:g.63963113_63963114del, NC_000018.10:g.63963113_63963114dup, NC_000018.9:g.61630347_61630348del, NC_000018.9:g.61630347_61630348dup

Select item 14913790978.

rs1491379097 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 18:63956362 (GRCh38)
18:61623597 (GRCh37)
Canonical SPDI:: NC_000018.10:63956362:C:CC
Gene:: HMSD (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000018.10:g.63956363dup, NC_000018.9:g.61623597dup, NG_027807.1:g.12010dup

Select item 14913105749.

rs1491310574 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>-,CTCT [Show Flanks]
Chromosome:: 18:63963117 (GRCh38)
18:61630351 (GRCh37)
Canonical SPDI:: NC_000018.10:63963115:TCT:T,NC_000018.10:63963115:TCT:TCTCT
Gene:: HMSD (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCTCT=0./0 (ALFA)
TC=0.000584/75 (GnomAD)
HGVS:: NC_000018.10:g.63963117_63963118del, NC_000018.10:g.63963117_63963118dup, NC_000018.9:g.61630351_61630352del, NC_000018.9:g.61630351_61630352dup

Select item 149129591810.

rs1491295918 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 18:63963124 (GRCh38)
18:61630359 (GRCh37)
Canonical SPDI:: NC_000018.10:63963124:C:CC
Gene:: HMSD (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: CC=0./0 (ALFA)
C=0.000017/2 (GnomAD)
HGVS:: NC_000018.10:g.63963125dup, NC_000018.9:g.61630359dup

Select item 149125777711.

rs1491257777 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>-,CTCT,CTGTCT [Show Flanks]
Chromosome:: 18:63963121 (GRCh38)
18:61630355 (GRCh37)
Canonical SPDI:: NC_000018.10:63963119:TCT:T,NC_000018.10:63963119:TCT:TCTCT,NC_000018.10:63963119:TCT:TCTGTCT
Gene:: HMSD (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00043/5 (ALFA)
-=0.00167/1 (NorthernSweden)
HGVS:: NC_000018.10:g.63963121_63963122del, NC_000018.10:g.63963121_63963122dup, NC_000018.10:g.63963122_63963123insGTCT, NC_000018.9:g.61630355_61630356del, NC_000018.9:g.61630355_61630356dup, NC_000018.9:g.61630356_61630357insGTCT

Select item 149123544712.

rs1491235447 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>-,CTCT [Show Flanks]
Chromosome:: 18:63963105 (GRCh38)
18:61630339 (GRCh37)
Canonical SPDI:: NC_000018.10:63963103:TCT:T,NC_000018.10:63963103:TCT:TCTCT
Gene:: HMSD (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TCTCT=0./0 (ALFA)
-=0.000008/1 (GnomAD)
HGVS:: NC_000018.10:g.63963105_63963106del, NC_000018.10:g.63963105_63963106dup, NC_000018.9:g.61630339_61630340del, NC_000018.9:g.61630339_61630340dup

Select item 149112576813.

rs1491125768 has merged into rs1002839127 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>-,AA,AAA,AAAA [Show Flanks]
Chromosome:: 18:63952289 (GRCh38)
18:61619523 (GRCh37)
Canonical SPDI:: NC_000018.10:63952288:AAAAAAAAAA:AAAAAAAAA,NC_000018.10:63952288:AAAAAAAAAA:AAAAAAAAAAA,NC_000018.10:63952288:AAAAAAAAAA:AAAAAAAAAAAA,NC_000018.10:63952288:AAAAAAAAAA:AAAAAAAAAAAAA
Gene:: HMSD (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
-=0.000177/5 (TOMMO)
-=0.007159/1895 (TOPMED)
HGVS:: NC_000018.10:g.63952298del, NC_000018.10:g.63952298dup, NC_000018.10:g.63952297_63952298dup, NC_000018.10:g.63952296_63952298dup, NC_000018.9:g.61619532del, NC_000018.9:g.61619532dup, NC_000018.9:g.61619531_61619532dup, NC_000018.9:g.61619530_61619532dup, NG_027807.1:g.7945del, NG_027807.1:g.7945dup, NG_027807.1:g.7944_7945dup, NG_027807.1:g.7943_7945dup

Select item 149105207614.

rs1491052076 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TCT,TCTTTCT,TCTTTCTCTTTCT [Show Flanks]
Chromosome:: 18:63963083 (GRCh38)
18:61630318 (GRCh37)
Canonical SPDI:: NC_000018.10:63963083:T:TTCT,NC_000018.10:63963083:T:TTCTTTCT,NC_000018.10:63963083:T:TTCTTTCTCTTTCT
Gene:: HMSD (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTCTTTCT=0./0 (ALFA)
HGVS:: NC_000018.10:g.63963084_63963085insTCT, NC_000018.10:g.63963084_63963085insTCTTTCT, NC_000018.10:g.63963084TTCT[2]CTTTCT[1], NC_000018.9:g.61630318_61630319insTCT, NC_000018.9:g.61630318_61630319insTCTTTCT, NC_000018.9:g.61630318TTCT[2]CTTTCT[1]

Select item 149083778715.

rs1490837787 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 18:63958827 (GRCh38)
18:61626061 (GRCh37)
Canonical SPDI:: NC_000018.10:63958826:G:A,NC_000018.10:63958826:G:T
Gene:: HMSD (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000021/3 (GnomAD)
HGVS:: NC_000018.10:g.63958827G>A, NC_000018.10:g.63958827G>T, NC_000018.9:g.61626061G>A, NC_000018.9:g.61626061G>T, NG_027807.1:g.14474G>A, NG_027807.1:g.14474G>T

Select item 149078154616.

rs1490781546 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 18:63959946 (GRCh38)
18:61627180 (GRCh37)
Canonical SPDI:: NC_000018.10:63959945:G:A,NC_000018.10:63959945:G:T
Gene:: HMSD (Varview)
Functional Consequence:: intron_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_000018.10:g.63959946G>A, NC_000018.10:g.63959946G>T, NC_000018.9:g.61627180G>A, NC_000018.9:g.61627180G>T, NG_027807.1:g.15593G>A, NG_027807.1:g.15593G>T

Select item 149067501717.

rs1490675017 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 18:63958279 (GRCh38)
18:61625513 (GRCh37)
Canonical SPDI:: NC_000018.10:63958278:GG:G
Gene:: HMSD (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GG=0./0 (ALFA)
HGVS:: NC_000018.10:g.63958280del, NC_000018.9:g.61625514del, NG_027807.1:g.13927del

Select item 149061652918.

rs1490616529 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 18:63948242 (GRCh38)
18:61615476 (GRCh37)
Canonical SPDI:: NC_000018.10:63948241:A:G
Gene:: HMSD (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
G=0.000035/1 (TOMMO)
HGVS:: NC_000018.10:g.63948242A>G, NC_000018.9:g.61615476A>G, NG_027807.1:g.3889A>G

Select item 149061024719.

rs1490610247 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 18:63960234 (GRCh38)
18:61627468 (GRCh37)
Canonical SPDI:: NC_000018.10:63960233:C:A
Gene:: HMSD (Varview)
Functional Consequence:: missense_variant,coding_sequence_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_000018.10:g.63960234C>A, NC_000018.9:g.61627468C>A, NG_027807.1:g.15881C>A, NM_001123366.2:c.299C>A, NM_001123366.1:c.299C>A, XM_011525930.3:c.299C>A, XM_011525930.2:c.299C>A, XM_011525930.1:c.299C>A, XM_017025710.2:c.299C>A, XM_017025710.1:c.299C>A, NP_001116838.1:p.Ser100Tyr, XP_011524232.1:p.Ser100Tyr, XP_016881199.1:p.Ser100Tyr

Select item 149036558620.

rs1490365586 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 18:63965599 (GRCh38)
18:61632833 (GRCh37)
Canonical SPDI:: NC_000018.10:63965598:C:T
Gene:: HMSD (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000142/2 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000018.10:g.63965599C>T, NC_000018.9:g.61632833C>T, NG_052876.1:g.572C>T

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