SNP Links for Gene (Select 101927278) - SNP

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Select item 14912665411.

rs1491266541 has merged into rs57051136 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGTGTGTGTGTGTGT>-,GT,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT [Show Flanks]
Chromosome:: 10:98449899 (GRCh38)
10:100209656 (GRCh37)
Canonical SPDI:: NC_000010.11:98449881:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGT,NC_000010.11:98449881:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGT,NC_000010.11:98449881:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGT,NC_000010.11:98449881:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGT,NC_000010.11:98449881:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGT,NC_000010.11:98449881:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000010.11:98449881:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000010.11:98449881:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000010.11:98449881:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000010.11:98449881:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000010.11:98449881:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000010.11:98449881:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000010.11:98449881:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000010.11:98449881:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000010.11:98449881:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000010.11:98449881:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000010.11:98449881:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000010.11:98449881:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000010.11:98449881:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000010.11:98449881:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
Gene:: HPS1-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGTGTGTGTGTGT=0./0 (ALFA)
GT=0.2135/823 (ALSPAC)
GT=0.2168/804 (TWINSUK)
HGVS:: NC_000010.11:g.98449883GT[8], NC_000010.11:g.98449883GT[9], NC_000010.11:g.98449883GT[10], NC_000010.11:g.98449883GT[11], NC_000010.11:g.98449883GT[12], NC_000010.11:g.98449883GT[13], NC_000010.11:g.98449883GT[14], NC_000010.11:g.98449883GT[15], NC_000010.11:g.98449883GT[17], NC_000010.11:g.98449883GT[18], NC_000010.11:g.98449883GT[19], NC_000010.11:g.98449883GT[20], NC_000010.11:g.98449883GT[21], NC_000010.11:g.98449883GT[22], NC_000010.11:g.98449883GT[23], NC_000010.11:g.98449883GT[24], NC_000010.11:g.98449883GT[25], NC_000010.11:g.98449883GT[26], NC_000010.11:g.98449883GT[27], NC_000010.11:g.98449883GT[28], NC_000010.10:g.100209640GT[8], NC_000010.10:g.100209640GT[9], NC_000010.10:g.100209640GT[10], NC_000010.10:g.100209640GT[11], NC_000010.10:g.100209640GT[12], NC_000010.10:g.100209640GT[13], NC_000010.10:g.100209640GT[14], NC_000010.10:g.100209640GT[15], NC_000010.10:g.100209640GT[17], NC_000010.10:g.100209640GT[18], NC_000010.10:g.100209640GT[19], NC_000010.10:g.100209640GT[20], NC_000010.10:g.100209640GT[21], NC_000010.10:g.100209640GT[22], NC_000010.10:g.100209640GT[23], NC_000010.10:g.100209640GT[24], NC_000010.10:g.100209640GT[25], NC_000010.10:g.100209640GT[26], NC_000010.10:g.100209640GT[27], NC_000010.10:g.100209640GT[28], NG_009646.1:g.2035CA[8], NG_009646.1:g.2035CA[9], NG_009646.1:g.2035CA[10], NG_009646.1:g.2035CA[11], NG_009646.1:g.2035CA[12], NG_009646.1:g.2035CA[13], NG_009646.1:g.2035CA[14], NG_009646.1:g.2035CA[15], NG_009646.1:g.2035CA[17], NG_009646.1:g.2035CA[18], NG_009646.1:g.2035CA[19], NG_009646.1:g.2035CA[20], NG_009646.1:g.2035CA[21], NG_009646.1:g.2035CA[22], NG_009646.1:g.2035CA[23], NG_009646.1:g.2035CA[24], NG_009646.1:g.2035CA[25], NG_009646.1:g.2035CA[26], NG_009646.1:g.2035CA[27], NG_009646.1:g.2035CA[28]

Select item 14911363582.

rs1491136358 has merged into rs761816547 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GT,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTTTGT [Show Flanks]
Chromosome:: 10:98449879 (GRCh38)
10:100209637 (GRCh37)
Canonical SPDI:: NC_000010.11:98449879:T:TGT,NC_000010.11:98449879:T:TGTGT,NC_000010.11:98449879:T:TGTGTGT,NC_000010.11:98449879:T:TGTGTGTGT,NC_000010.11:98449879:T:TGTGTGTGTGT,NC_000010.11:98449879:T:TGTGTGTGTGTGT,NC_000010.11:98449879:T:TGTGTGTGTGTGTGT,NC_000010.11:98449879:T:TGTGTGTGTGTGTGTGT,NC_000010.11:98449879:T:TGTTTGT
Gene:: HPS1-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGT=0./0 (ALFA)
TGTTTG=0.00727/28 (ALSPAC)
TGTTTG=0.00998/37 (TWINSUK)
HGVS:: NC_000010.11:g.98449880_98449881insGT, NC_000010.11:g.98449880_98449881insGTGT, NC_000010.11:g.98449881GT[3], NC_000010.11:g.98449881GT[4], NC_000010.11:g.98449881GT[5], NC_000010.11:g.98449881GT[6], NC_000010.11:g.98449881GT[7], NC_000010.11:g.98449881GT[8], NC_000010.11:g.98449880_98449881insGTTTGT, NC_000010.10:g.100209637_100209638insGT, NC_000010.10:g.100209637_100209638insGTGT, NC_000010.10:g.100209638GT[3], NC_000010.10:g.100209638GT[4], NC_000010.10:g.100209638GT[5], NC_000010.10:g.100209638GT[6], NC_000010.10:g.100209638GT[7], NC_000010.10:g.100209638GT[8], NC_000010.10:g.100209637_100209638insGTTTGT, NG_009646.1:g.2068_2069insCA, NG_009646.1:g.2068_2069insCACA, NG_009646.1:g.2069CA[3], NG_009646.1:g.2069CA[4], NG_009646.1:g.2069CA[5], NG_009646.1:g.2069CA[6], NG_009646.1:g.2069CA[7], NG_009646.1:g.2069CA[8], NG_009646.1:g.2068_2069insCAAACA

Select item 14910603363.

rs1491060336 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GTGTGTTT [Show Flanks]
Chromosome:: 10:98449913 (GRCh38)
10:100209671 (GRCh37)
Canonical SPDI:: NC_000010.11:98449913:T:TGTGTGTTT
Gene:: HPS1-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TGTGTGTTT=0./0 (ALFA)
TGTGTGTT=0.000014/2 (GnomAD)
HGVS:: NC_000010.11:g.98449914TG[3]TTT[1], NC_000010.10:g.100209671TG[3]TTT[1], NG_009646.1:g.2034_2035insAACACACA

Select item 14906742844.

rs1490674284 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:98445199 (GRCh38)
10:100204956 (GRCh37)
Canonical SPDI:: NC_000010.11:98445198:G:A
Gene:: HPS1 (Varview), HPS1-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000010.11:g.98445199G>A, NC_000010.10:g.100204956G>A, NG_009646.1:g.6749C>T

Select item 14901758235.

rs1490175823 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:98447636 (GRCh38)
10:100207393 (GRCh37)
Canonical SPDI:: NC_000010.11:98447635:C:T
Gene:: HPS1 (Varview), HPS1-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000019/5 (TOPMED)
T=0.000029/4 (GnomAD)
HGVS:: NC_000010.11:g.98447636C>T, NC_000010.10:g.100207393C>T, NG_009646.1:g.4312G>A

Select item 14901395136.

rs1490139513 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:98445171 (GRCh38)
10:100204928 (GRCh37)
Canonical SPDI:: NC_000010.11:98445170:G:A
Gene:: HPS1 (Varview), HPS1-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000010.11:g.98445171G>A, NC_000010.10:g.100204928G>A, NG_009646.1:g.6777C>T

Select item 14900381457.

rs1490038145 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:98452175 (GRCh38)
10:100211932 (GRCh37)
Canonical SPDI:: NC_000010.11:98452174:G:A
Gene:: HPS1-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000010.11:g.98452175G>A, NC_000010.10:g.100211932G>A

Select item 14899106678.

rs1489910667 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 10:98454064 (GRCh38)
10:100213821 (GRCh37)
Canonical SPDI:: NC_000010.11:98454063:C:A,NC_000010.11:98454063:C:G
Gene:: HPS1-AS1 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000010.11:g.98454064C>A, NC_000010.11:g.98454064C>G, NC_000010.10:g.100213821C>A, NC_000010.10:g.100213821C>G

Select item 14898559399.

rs1489855939 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:98445690 (GRCh38)
10:100205447 (GRCh37)
Canonical SPDI:: NC_000010.11:98445689:C:T
Gene:: HPS1 (Varview), HPS1-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.98445690C>T, NC_000010.10:g.100205447C>T, NG_009646.1:g.6258G>A

Select item 148922085410.

rs1489220854 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:98449432 (GRCh38)
10:100209189 (GRCh37)
Canonical SPDI:: NC_000010.11:98449431:G:A
Gene:: HPS1-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.98449432G>A, NC_000010.10:g.100209189G>A, NG_009646.1:g.2516C>T

Select item 148907741911.

rs1489077419 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: 10:98446372 (GRCh38)
10:100206129 (GRCh37)
Canonical SPDI:: NC_000010.11:98446371:C:
Gene:: HPS1 (Varview), HPS1-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.98446372del, NC_000010.10:g.100206129del, NG_009646.1:g.5576del, NR_134451.1:n.52del, NR_134452.1:n.52del, NR_134453.1:n.52del, NR_134454.1:n.52del

Select item 148875495712.

rs1488754957 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 10:98450679 (GRCh38)
10:100210436 (GRCh37)
Canonical SPDI:: NC_000010.11:98450678:A:C
Gene:: HPS1-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.98450679A>C, NC_000010.10:g.100210436A>C, NG_009646.1:g.1269T>G

Select item 148868354213.

rs1488683542 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 10:98449769 (GRCh38)
10:100209526 (GRCh37)
Canonical SPDI:: NC_000010.11:98449768:G:C,NC_000010.11:98449768:G:T
Gene:: HPS1-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
G=0.5/1 (SGDP_PRJ)
HGVS:: NC_000010.11:g.98449769G>C, NC_000010.11:g.98449769G>T, NC_000010.10:g.100209526G>C, NC_000010.10:g.100209526G>T, NG_009646.1:g.2179C>G, NG_009646.1:g.2179C>A

Select item 148867824914.

rs1488678249 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 10:98454072 (GRCh38)
10:100213829 (GRCh37)
Canonical SPDI:: NC_000010.11:98454067:CTCTCT:CTCT
Gene:: HPS1-AS1 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CTCT=0./0 (ALFA)
-=0.000011/3 (TOPMED)
-=0.000021/3 (GnomAD)
HGVS:: NC_000010.11:g.98454068CT[2], NC_000010.10:g.100213825CT[2]

Select item 148718713515.

rs1487187135 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 10:98448903 (GRCh38)
10:100208660 (GRCh37)
Canonical SPDI:: NC_000010.11:98448902:G:C,NC_000010.11:98448902:G:T
Gene:: HPS1 (Varview), HPS1-AS1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.98448903G>C, NC_000010.11:g.98448903G>T, NC_000010.10:g.100208660G>C, NC_000010.10:g.100208660G>T, NG_009646.1:g.3045C>G, NG_009646.1:g.3045C>A

Select item 148708710216.

rs1487087102 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:98452403 (GRCh38)
10:100212160 (GRCh37)
Canonical SPDI:: NC_000010.11:98452402:T:C
Gene:: HPS1-AS1 (Varview)
Functional Consequence:: intron_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_000010.11:g.98452403T>C, NC_000010.10:g.100212160T>C

Select item 148681176717.

rs1486811767 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 10:98448401 (GRCh38)
10:100208158 (GRCh37)
Canonical SPDI:: NC_000010.11:98448400:T:G
Gene:: HPS1 (Varview), HPS1-AS1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_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_000010.11:g.98448401T>G, NC_000010.10:g.100208158T>G, NG_009646.1:g.3547A>C

Select item 148660517418.

rs1486605174 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CTCT [Show Flanks]
Chromosome:: 10:98451235 (GRCh38)
10:100210993 (GRCh37)
Canonical SPDI:: NC_000010.11:98451235:TCT:TCTCTCT
Gene:: HPS1-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TCTCTCT=0./0 (ALFA)
TCTC=0.000059/6 (GnomAD)
HGVS:: NC_000010.11:g.98451237CT[3], NC_000010.10:g.100210994CT[3], NG_009646.1:g.711GA[3]

Select item 148584132719.

rs1485841327 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 10:98444364 (GRCh38)
10:100204121 (GRCh37)
Canonical SPDI:: NC_000010.11:98444363:G:T
Gene:: HPS1 (Varview), HPS1-AS1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000010.11:g.98444364G>T, NC_000010.10:g.100204121G>T, NG_009646.1:g.7584C>A

Select item 148562278420.

rs1485622784 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:98448906 (GRCh38)
10:100208663 (GRCh37)
Canonical SPDI:: NC_000010.11:98448905:C:T
Gene:: HPS1 (Varview), HPS1-AS1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.98448906C>T, NC_000010.10:g.100208663C>T, NG_009646.1:g.3042G>A

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