SNP Links for Gene (Select 51015) - SNP

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Select item 14915453631.

rs1491545363 has merged into rs1554064628 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>-,ATAT,ATATAT,ATATATAT,ATATATATAT,ATATATATATAT,ATATATATATATAT,ATATATATATATATAT,ATATATATATATATATAT,ATATATATATATATATATAT,ATATATATATATATATATATAT,ATATATATATATATATATATATAT,ATATATATATATATATATATATATAT,ATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATAT [Show Flanks]
Chromosome:: 5:129101207 (GRCh38)
5:128436900 (GRCh37)
Canonical SPDI:: NC_000005.10:129101192:ATATATATATATATAT:ATATATATATATAT,NC_000005.10:129101192:ATATATATATATATAT:ATATATATATATATATAT,NC_000005.10:129101192:ATATATATATATATAT:ATATATATATATATATATAT,NC_000005.10:129101192:ATATATATATATATAT:ATATATATATATATATATATAT,NC_000005.10:129101192:ATATATATATATATAT:ATATATATATATATATATATATAT,NC_000005.10:129101192:ATATATATATATATAT:ATATATATATATATATATATATATAT,NC_000005.10:129101192:ATATATATATATATAT:ATATATATATATATATATATATATATAT,NC_000005.10:129101192:ATATATATATATATAT:ATATATATATATATATATATATATATATAT,NC_000005.10:129101192:ATATATATATATATAT:ATATATATATATATATATATATATATATATAT,NC_000005.10:129101192:ATATATATATATATAT:ATATATATATATATATATATATATATATATATAT,NC_000005.10:129101192:ATATATATATATATAT:ATATATATATATATATATATATATATATATATATAT,NC_000005.10:129101192:ATATATATATATATAT:ATATATATATATATATATATATATATATATATATATAT,NC_000005.10:129101192:ATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATAT,NC_000005.10:129101192:ATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATAT,NC_000005.10:129101192:ATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATAT,NC_000005.10:129101192:ATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATAT
Gene:: ISOC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATATATATATATATAT=0./0 (ALFA)
HGVS:: NC_000005.10:g.129101193AT[7], NC_000005.10:g.129101193AT[9], NC_000005.10:g.129101193AT[10], NC_000005.10:g.129101193AT[11], NC_000005.10:g.129101193AT[12], NC_000005.10:g.129101193AT[13], NC_000005.10:g.129101193AT[14], NC_000005.10:g.129101193AT[15], NC_000005.10:g.129101193AT[16], NC_000005.10:g.129101193AT[17], NC_000005.10:g.129101193AT[18], NC_000005.10:g.129101193AT[19], NC_000005.10:g.129101193AT[20], NC_000005.10:g.129101193AT[21], NC_000005.10:g.129101193AT[22], NC_000005.10:g.129101193AT[23], NC_000005.9:g.128436886AT[7], NC_000005.9:g.128436886AT[9], NC_000005.9:g.128436886AT[10], NC_000005.9:g.128436886AT[11], NC_000005.9:g.128436886AT[12], NC_000005.9:g.128436886AT[13], NC_000005.9:g.128436886AT[14], NC_000005.9:g.128436886AT[15], NC_000005.9:g.128436886AT[16], NC_000005.9:g.128436886AT[17], NC_000005.9:g.128436886AT[18], NC_000005.9:g.128436886AT[19], NC_000005.9:g.128436886AT[20], NC_000005.9:g.128436886AT[21], NC_000005.9:g.128436886AT[22], NC_000005.9:g.128436886AT[23]

Select item 14915143152.

rs1491514315 [Homo sapiens]

Variant type:: DEL
Alleles:: CG>- [Show Flanks]
Chromosome:: 5:129094758 (GRCh38)
5:128430451 (GRCh37)
Canonical SPDI:: NC_000005.10:129094757:CG:
Gene:: ISOC1 (Varview), LOC124901060 (Varview)
Functional Consequence:: 5_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: -=0.00001/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.129094758_129094759del, NC_000005.9:g.128430451_128430452del, NM_016048.2:c.-9_-8del, XR_007058926.1:n.872_873del

Select item 14912137133.

rs1491213713 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GTATATATAT [Show Flanks]
Chromosome:: 5:129101193 (GRCh38)
5:128436887 (GRCh37)
Canonical SPDI:: NC_000005.10:129101193:TATATATAT:TATATATATGTATATATAT
Gene:: ISOC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATATGTATATATAT=0./0 (ALFA)
TATATATATG=0.000004/1 (TOPMED)
TATATATATG=0.000024/1 (GnomAD)
HGVS:: NC_000005.10:g.129101194_129101202TA[4]TGTATATATAT[1], NC_000005.9:g.128436887_128436895TA[4]TGTATATATAT[1]

Select item 14909917314.

rs1490991731 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 5:129098854 (GRCh38)
5:128434547 (GRCh37)
Canonical SPDI:: NC_000005.10:129098853:C:G,NC_000005.10:129098853:C:T
Gene:: ISOC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.129098854C>G, NC_000005.10:g.129098854C>T, NC_000005.9:g.128434547C>G, NC_000005.9:g.128434547C>T

Select item 14906670265.

rs1490667026 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 5:129108304 (GRCh38)
5:128443998 (GRCh37)
Canonical SPDI:: NC_000005.10:129108304:A:AA
Gene:: ISOC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
A=0.000015/4 (TOPMED)
A=0.000546/1 (Korea1K)
HGVS:: NC_000005.10:g.129108305dup, NC_000005.9:g.128443998dup

Select item 14904185866.

rs1490418586 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 5:129108010 (GRCh38)
5:128443703 (GRCh37)
Canonical SPDI:: NC_000005.10:129108009:T:G
Gene:: ISOC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.129108010T>G, NC_000005.9:g.128443703T>G

Select item 14904040987.

rs1490404098 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:129092887 (GRCh38)
5:128428580 (GRCh37)
Canonical SPDI:: NC_000005.10:129092886:G:A
Gene:: ISOC1 (Varview), LOC124901060 (Varview)
Functional Consequence:: 500B_downstream_variant,upstream_transcript_variant,2KB_upstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000005.10:g.129092887G>A, NC_000005.9:g.128428580G>A

Select item 14903828838.

rs1490382883 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:129107839 (GRCh38)
5:128443532 (GRCh37)
Canonical SPDI:: NC_000005.10:129107838:T:C
Gene:: ISOC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.129107839T>C, NC_000005.9:g.128443532T>C

Select item 14903794559.

rs1490379455 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:129094153 (GRCh38)
5:128429846 (GRCh37)
Canonical SPDI:: NC_000005.10:129094152:C:T
Gene:: ISOC1 (Varview), LOC124901060 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_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_000005.10:g.129094153C>T, NC_000005.9:g.128429846C>T, XR_007058926.1:n.1478G>A

Select item 149036801410.

rs1490368014 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:129110586 (GRCh38)
5:128446279 (GRCh37)
Canonical SPDI:: NC_000005.10:129110585:G:A
Gene:: ISOC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.129110586G>A, NC_000005.9:g.128446279G>A

Select item 149034266111.

rs1490342661 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:129107269 (GRCh38)
5:128442962 (GRCh37)
Canonical SPDI:: NC_000005.10:129107268:A:G
Gene:: ISOC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
G=0.000019/5 (TOPMED)
HGVS:: NC_000005.10:g.129107269A>G, NC_000005.9:g.128442962A>G

Select item 148985091412.

rs1489850914 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 5:129107713 (GRCh38)
5:128443406 (GRCh37)
Canonical SPDI:: NC_000005.10:129107712:G:T
Gene:: ISOC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.129107713G>T, NC_000005.9:g.128443406G>T

Select item 148984663613.

rs1489846636 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 5:129098399 (GRCh38)
5:128434092 (GRCh37)
Canonical SPDI:: NC_000005.10:129098398:C:G
Gene:: ISOC1 (Varview), LOC124901060 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
G=0.000015/4 (TOPMED)
HGVS:: NC_000005.10:g.129098399C>G, NC_000005.9:g.128434092C>G

Select item 148960409714.

rs1489604097 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:129109886 (GRCh38)
5:128445579 (GRCh37)
Canonical SPDI:: NC_000005.10:129109885:C:T
Gene:: ISOC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0./0 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.129109886C>T, NC_000005.9:g.128445579C>T

Select item 148931371915.

rs1489313719 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 5:129100940 (GRCh38)
5:128436633 (GRCh37)
Canonical SPDI:: NC_000005.10:129100939:G:T
Gene:: ISOC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
HGVS:: NC_000005.10:g.129100940G>T, NC_000005.9:g.128436633G>T

Select item 148928607616.

rs1489286076 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:129094707 (GRCh38)
5:128430400 (GRCh37)
Canonical SPDI:: NC_000005.10:129094706:C:T
Gene:: ISOC1 (Varview), LOC124901060 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
HGVS:: NC_000005.10:g.129094707C>T, NC_000005.9:g.128430400C>T, XR_007058926.1:n.924G>A

Select item 148919687317.

rs1489196873 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 5:129114064 (GRCh38)
5:128449757 (GRCh37)
Canonical SPDI:: NC_000005.10:129114063:A:T
Gene:: ISOC1 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.129114064A>T, NC_000005.9:g.128449757A>T

Select item 148916031118.

rs1489160311 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:129097880 (GRCh38)
5:128433573 (GRCh37)
Canonical SPDI:: NC_000005.10:129097879:G:A
Gene:: ISOC1 (Varview), MIR4633 (Varview), LOC124901060 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant,2KB_upstream_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_000005.10:g.129097880G>A, NC_000005.9:g.128433573G>A

Select item 148906079319.

rs1489060793 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 5:129094044 (GRCh38)
5:128429737 (GRCh37)
Canonical SPDI:: NC_000005.10:129094043:T:G
Gene:: ISOC1 (Varview), LOC124901060 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000029/4 (GnomAD)
G=0.000049/13 (TOPMED)
HGVS:: NC_000005.10:g.129094044T>G, NC_000005.9:g.128429737T>G, XR_007058926.1:n.1587A>C

Select item 148903610520.

rs1489036105 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 5:129110268 (GRCh38)
5:128445961 (GRCh37)
Canonical SPDI:: NC_000005.10:129110267:A:G,NC_000005.10:129110267:A:T
Gene:: ISOC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
G=0.000991/17 (TOMMO)
HGVS:: NC_000005.10:g.129110268A>G, NC_000005.10:g.129110268A>T, NC_000005.9:g.128445961A>G, NC_000005.9:g.128445961A>T

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