SNP Links for Gene (Select 55174) - SNP

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Select item 14915414011.

rs1491541401 has merged into rs56275270 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 8:19840075 (GRCh38)
8:19697586 (GRCh37)
Canonical SPDI:: NC_000008.11:19840062:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000008.11:19840062:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000008.11:19840062:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000008.11:19840062:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000008.11:19840062:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000008.11:19840062:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000008.11:19840062:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000008.11:19840062:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000008.11:19840062:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000008.11:19840062:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000008.11:19840062:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:19840062:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:19840062:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:19840062:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:19840062:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:19840062:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:19840062:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:19840062:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:19840062:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:19840062:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:19840062:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:19840062:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:19840062:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:19840062:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:19840062:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: INTS10 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
-=0.45/18 (GENOME_DK)
HGVS:: NC_000008.11:g.19840075_19840090del, NC_000008.11:g.19840076_19840090del, NC_000008.11:g.19840077_19840090del, NC_000008.11:g.19840078_19840090del, NC_000008.11:g.19840079_19840090del, NC_000008.11:g.19840080_19840090del, NC_000008.11:g.19840081_19840090del, NC_000008.11:g.19840082_19840090del, NC_000008.11:g.19840083_19840090del, NC_000008.11:g.19840084_19840090del, NC_000008.11:g.19840085_19840090del, NC_000008.11:g.19840086_19840090del, NC_000008.11:g.19840087_19840090del, NC_000008.11:g.19840088_19840090del, NC_000008.11:g.19840089_19840090del, NC_000008.11:g.19840090del, NC_000008.11:g.19840090dup, NC_000008.11:g.19840089_19840090dup, NC_000008.11:g.19840088_19840090dup, NC_000008.11:g.19840087_19840090dup, NC_000008.11:g.19840086_19840090dup, NC_000008.11:g.19840085_19840090dup, NC_000008.11:g.19840084_19840090dup, NC_000008.11:g.19840082_19840090dup, NC_000008.11:g.19840080_19840090dup, NC_000008.10:g.19697586_19697601del, NC_000008.10:g.19697587_19697601del, NC_000008.10:g.19697588_19697601del, NC_000008.10:g.19697589_19697601del, NC_000008.10:g.19697590_19697601del, NC_000008.10:g.19697591_19697601del, NC_000008.10:g.19697592_19697601del, NC_000008.10:g.19697593_19697601del, NC_000008.10:g.19697594_19697601del, NC_000008.10:g.19697595_19697601del, NC_000008.10:g.19697596_19697601del, NC_000008.10:g.19697597_19697601del, NC_000008.10:g.19697598_19697601del, NC_000008.10:g.19697599_19697601del, NC_000008.10:g.19697600_19697601del, NC_000008.10:g.19697601del, NC_000008.10:g.19697601dup, NC_000008.10:g.19697600_19697601dup, NC_000008.10:g.19697599_19697601dup, NC_000008.10:g.19697598_19697601dup, NC_000008.10:g.19697597_19697601dup, NC_000008.10:g.19697596_19697601dup, NC_000008.10:g.19697595_19697601dup, NC_000008.10:g.19697593_19697601dup, NC_000008.10:g.19697591_19697601dup

Select item 14914515722.

rs1491451572 has merged into rs150654357 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA [Show Flanks]
Chromosome:: 8:19822957 (GRCh38)
8:19680468 (GRCh37)
Canonical SPDI:: NC_000008.11:19822948:AAAAAAAAAAAAA:AAAAAAAA,NC_000008.11:19822948:AAAAAAAAAAAAA:AAAAAAAAA,NC_000008.11:19822948:AAAAAAAAAAAAA:AAAAAAAAAA,NC_000008.11:19822948:AAAAAAAAAAAAA:AAAAAAAAAAA,NC_000008.11:19822948:AAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000008.11:19822948:AAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000008.11:19822948:AAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000008.11:19822948:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAA
Gene:: INTS10 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
-=0.03322/130 (1000Genomes)
A=0.15854/91 (NorthernSweden)
A=0.2/8 (GENOME_DK)
A=0.24728/953 (ALSPAC)
A=0.25809/957 (TWINSUK)
HGVS:: NC_000008.11:g.19822957_19822961del, NC_000008.11:g.19822958_19822961del, NC_000008.11:g.19822959_19822961del, NC_000008.11:g.19822960_19822961del, NC_000008.11:g.19822961del, NC_000008.11:g.19822961dup, NC_000008.11:g.19822960_19822961dup, NC_000008.11:g.19822959_19822961dup, NC_000008.10:g.19680468_19680472del, NC_000008.10:g.19680469_19680472del, NC_000008.10:g.19680470_19680472del, NC_000008.10:g.19680471_19680472del, NC_000008.10:g.19680472del, NC_000008.10:g.19680472dup, NC_000008.10:g.19680471_19680472dup, NC_000008.10:g.19680470_19680472dup

Select item 14911369983.

rs1491136998 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 8:19840062 (GRCh38)
8:19697573 (GRCh37)
Canonical SPDI:: NC_000008.11:19840061:CA:
Gene:: INTS10 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00034/4 (ALFA)
HGVS:: NC_000008.11:g.19840062_19840063del, NC_000008.10:g.19697573_19697574del

Select item 14910858564.

rs1491085856 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 8:19834442 (GRCh38)
8:19691954 (GRCh37)
Canonical SPDI:: NC_000008.11:19834442:T:TT
Gene:: INTS10 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000008.11:g.19834443dup, NC_000008.10:g.19691954dup

Select item 14909098535.

rs1490909853 [Homo sapiens]

Variant type:: DEL
Alleles:: AAAAG>- [Show Flanks]
Chromosome:: 8:19836233 (GRCh38)
8:19693744 (GRCh37)
Canonical SPDI:: NC_000008.11:19836232:AAAAG:
Gene:: INTS10 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000071/1 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000283/5 (TOMMO)
HGVS:: NC_000008.11:g.19836233_19836237del, NC_000008.10:g.19693744_19693748del

Select item 14908425566.

rs1490842556 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:19847616 (GRCh38)
8:19705127 (GRCh37)
Canonical SPDI:: NC_000008.11:19847615:C:T
Gene:: INTS10 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000008.11:g.19847616C>T, NC_000008.10:g.19705127C>T

Select item 14908257737.

rs1490825773 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:19821014 (GRCh38)
8:19678525 (GRCh37)
Canonical SPDI:: NC_000008.11:19821013:G:A
Gene:: INTS10 (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_000008.11:g.19821014G>A, NC_000008.10:g.19678525G>A

Select item 14905436448.

rs1490543644 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 8:19844254 (GRCh38)
8:19701765 (GRCh37)
Canonical SPDI:: NC_000008.11:19844253:G:A,NC_000008.11:19844253:G:T
Gene:: INTS10 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000008.11:g.19844254G>A, NC_000008.11:g.19844254G>T, NC_000008.10:g.19701765G>A, NC_000008.10:g.19701765G>T, NR_148453.2:n.1880G>A, NR_148453.2:n.1880G>T, NR_148453.1:n.2147G>A, NR_148453.1:n.2147G>T, XR_007060743.1:n.2020G>A, XR_007060743.1:n.2020G>T

Select item 14904401389.

rs1490440138 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:19828977 (GRCh38)
8:19686488 (GRCh37)
Canonical SPDI:: NC_000008.11:19828976:G:A
Gene:: INTS10 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000015/4 (TOPMED)
HGVS:: NC_000008.11:g.19828977G>A, NC_000008.10:g.19686488G>A

Select item 149042197710.

rs1490421977 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 8:19815660 (GRCh38)
8:19673171 (GRCh37)
Canonical SPDI:: NC_000008.11:19815659:T:G
Gene:: INTS10 (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_000008.11:g.19815660T>G, NC_000008.10:g.19673171T>G

Select item 149039879811.

rs1490398798 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:19817272 (GRCh38)
8:19674783 (GRCh37)
Canonical SPDI:: NC_000008.11:19817271:C:T
Gene:: INTS10 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
HGVS:: NC_000008.11:g.19817272C>T, NC_000008.10:g.19674783C>T, NM_018142.3:c.-266C>T, NR_148458.1:n.124C>T, NM_001353513.1:c.-736C>T, NM_001353514.1:c.-736C>T, NM_001353511.1:c.-482C>T, NM_001353515.1:c.-736C>T, NR_148456.1:n.124C>T, NR_148453.1:n.124C>T, NM_001353512.1:c.-482C>T, NM_001353505.1:c.-266C>T, NM_001353507.1:c.-266C>T, NM_001353506.1:c.-266C>T, NM_001353508.1:c.-266C>T, NM_001353517.1:c.-944C>T, NR_148454.1:n.124C>T, NR_148457.1:n.124C>T, NR_148452.1:n.124C>T, NM_001353519.1:c.-894C>T, NM_001353509.1:c.-266C>T, NM_001353510.1:c.-266C>T, NM_001353521.1:c.-944C>T, NM_001353516.1:c.-813C>T, NM_001353518.1:c.-813C>T, NM_001353520.1:c.-813C>T, NM_001353522.1:c.-813C>T, NR_148455.1:n.124C>T, NR_148451.1:n.124C>T

Select item 149034063512.

rs1490340635 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:19843635 (GRCh38)
8:19701146 (GRCh37)
Canonical SPDI:: NC_000008.11:19843634:C:T
Gene:: INTS10 (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_000008.11:g.19843635C>T, NC_000008.10:g.19701146C>T

Select item 149027667513.

rs1490276675 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:19829432 (GRCh38)
8:19686943 (GRCh37)
Canonical SPDI:: NC_000008.11:19829431:C:T
Gene:: INTS10 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000008.11:g.19829432C>T, NC_000008.10:g.19686943C>T

Select item 149024050114.

rs1490240501 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 8:19828570 (GRCh38)
8:19686081 (GRCh37)
Canonical SPDI:: NC_000008.11:19828569:A:C
Gene:: INTS10 (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_000008.11:g.19828570A>C, NC_000008.10:g.19686081A>C

Select item 149014244715.

rs1490142447 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:19851117 (GRCh38)
8:19708628 (GRCh37)
Canonical SPDI:: NC_000008.11:19851116:A:G
Gene:: INTS10 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000008.11:g.19851117A>G, NC_000008.10:g.19708628A>G

Select item 149013045116.

rs1490130451 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 8:19824989 (GRCh38)
8:19682501 (GRCh37)
Canonical SPDI:: NC_000008.11:19824989:A:AA
Gene:: INTS10 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000008.11:g.19824990dup, NC_000008.10:g.19682501dup

Select item 149009254017.

rs1490092540 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 8:19815345 (GRCh38)
8:19672857 (GRCh37)
Canonical SPDI:: NC_000008.11:19815345:TTT:TTTT
Validated:: by frequency,by alfa,by cluster
MAF:: TTTT=0./0 (ALFA)
T=0.00003/2 (GnomAD)
HGVS:: NC_000008.11:g.19815348dup, NC_000008.10:g.19672859dup

Select item 149006376018.

rs1490063760 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 8:19817085 (GRCh38)
8:19674596 (GRCh37)
Canonical SPDI:: NC_000008.11:19817084:C:A
Gene:: INTS10 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000026/7 (TOPMED)
C=0.5/1 (SGDP_PRJ)
HGVS:: NC_000008.11:g.19817085C>A, NC_000008.10:g.19674596C>A

Select item 149002830419.

rs1490028304 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 8:19835682 (GRCh38)
8:19693193 (GRCh37)
Canonical SPDI:: NC_000008.11:19835681:G:C
Gene:: INTS10 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.19835682G>C, NC_000008.10:g.19693193G>C

Select item 148990438420.

rs1489904384 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:19815999 (GRCh38)
8:19673510 (GRCh37)
Canonical SPDI:: NC_000008.11:19815998:C:T
Gene:: INTS10 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_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_000008.11:g.19815999C>T, NC_000008.10:g.19673510C>T

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