SNP Links for Gene (Select 26038) - SNP

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Select item 14915621281.

rs1491562128 [Homo sapiens]

Variant type:: DEL
Alleles:: GT>- [Show Flanks]
Chromosome:: 1:6119815 (GRCh38)
1:6179875 (GRCh37)
Canonical SPDI:: NC_000001.11:6119814:GT:
Gene:: CHD5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.00003/4 (GnomAD)
-=0.000053/14 (TOPMED)
HGVS:: NC_000001.11:g.6119815_6119816del, NC_000001.10:g.6179875_6179876del

Select item 14915494882.

rs1491549488 has merged into rs5772219 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCCCCCC>-,CCCCC,CCCCCC,CCCCCCCC,CCCCCCCCC,CCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCCCCCC [Show Flanks]
Chromosome:: 1:6104622 (GRCh38)
1:6164682 (GRCh37)
Canonical SPDI:: NC_000001.11:6104618:CCCCCCCCCC:CCC,NC_000001.11:6104618:CCCCCCCCCC:CCCCCCCC,NC_000001.11:6104618:CCCCCCCCCC:CCCCCCCCC,NC_000001.11:6104618:CCCCCCCCCC:CCCCCCCCCCC,NC_000001.11:6104618:CCCCCCCCCC:CCCCCCCCCCCC,NC_000001.11:6104618:CCCCCCCCCC:CCCCCCCCCCCCCCCC,NC_000001.11:6104618:CCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCC
Gene:: CHD5 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCCCC=0./0 (ALFA)
-=0./0 (ALSPAC)
-=0.000057/15 (TOPMED)
-=0.075/3 (GENOME_DK)
-=0.094532/408 (Estonian)
-=0.228219/3824 (TOMMO)
HGVS:: NC_000001.11:g.6104622_6104628del, NC_000001.11:g.6104627_6104628del, NC_000001.11:g.6104628del, NC_000001.11:g.6104628dup, NC_000001.11:g.6104627_6104628dup, NC_000001.11:g.6104623_6104628dup, NC_000001.11:g.6104628_6104629insCCCCCCCCCCCCCCCC, NC_000001.10:g.6164682_6164688del, NC_000001.10:g.6164687_6164688del, NC_000001.10:g.6164688del, NC_000001.10:g.6164688dup, NC_000001.10:g.6164687_6164688dup, NC_000001.10:g.6164683_6164688dup, NC_000001.10:g.6164688_6164689insCCCCCCCCCCCCCCCC, NM_015557.3:c.*849_*855del, NM_015557.3:c.*854_*855del, NM_015557.3:c.*855del, NM_015557.3:c.*855dup, NM_015557.3:c.*854_*855dup, NM_015557.3:c.*850_*855dup, NM_015557.3:c.*855_*856insGGGGGGGGGGGGGGGG, NM_015557.2:c.*849_*855del, NM_015557.2:c.*854_*855del, NM_015557.2:c.*855del, NM_015557.2:c.*855dup, NM_015557.2:c.*854_*855dup, NM_015557.2:c.*850_*855dup, NM_015557.2:c.*855_*856insGGGGGGGGGGGGGGGG

Select item 14915232753.

rs1491523275 [Homo sapiens]

Variant type:: DELINS
Alleles:: TG>- [Show Flanks]
Chromosome:: 1:6180830 (GRCh38)
1:6240890 (GRCh37)
Canonical SPDI:: NC_000001.11:6180827:TGTG:TG
Gene:: CHD5 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.6180828TG[1], NC_000001.10:g.6240888TG[1]

Select item 14915059914.

rs1491505991 [Homo sapiens]

Variant type:: DEL
Alleles:: GA>- [Show Flanks]
Chromosome:: 1:6150369 (GRCh38)
1:6210429 (GRCh37)
Canonical SPDI:: NC_000001.11:6150368:GA:
Gene:: CHD5 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000001.11:g.6150369_6150370del, NC_000001.10:g.6210429_6210430del

Select item 14913796125.

rs1491379612 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GCTCTCTC [Show Flanks]
Chromosome:: 1:6132881 (GRCh38)
1:6192942 (GRCh37)
Canonical SPDI:: NC_000001.11:6132881:CTCTCTC:CTCTCTCGCTCTCTC
Gene:: CHD5 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000001.11:g.6132882_6132888CT[3]CGCTCTCTC[1], NC_000001.10:g.6192942_6192948CT[3]CGCTCTCTC[1]

Select item 14913488016.

rs1491348801 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 1:6156536 (GRCh38)
1:6216597 (GRCh37)
Canonical SPDI:: NC_000001.11:6156536::G
Gene:: CHD5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.00022/21 (GnomAD)
HGVS:: NC_000001.11:g.6156536_6156537insG, NC_000001.10:g.6216596_6216597insG

Select item 14913446227.

rs1491344622 has merged into rs1225146962 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAA>-,A,AA,AAA,AAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 1:6156546 (GRCh38)
1:6216606 (GRCh37)
Canonical SPDI:: NC_000001.11:6156535:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000001.11:6156535:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000001.11:6156535:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:6156535:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:6156535:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:6156535:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:6156535:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:6156535:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:6156535:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:6156535:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:6156535:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:6156535:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: CHD5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000001.11:g.6156546_6156556del, NC_000001.11:g.6156547_6156556del, NC_000001.11:g.6156548_6156556del, NC_000001.11:g.6156549_6156556del, NC_000001.11:g.6156551_6156556del, NC_000001.11:g.6156554_6156556del, NC_000001.11:g.6156555_6156556del, NC_000001.11:g.6156556del, NC_000001.11:g.6156556dup, NC_000001.11:g.6156555_6156556dup, NC_000001.11:g.6156554_6156556dup, NC_000001.11:g.6156553_6156556dup, NC_000001.10:g.6216606_6216616del, NC_000001.10:g.6216607_6216616del, NC_000001.10:g.6216608_6216616del, NC_000001.10:g.6216609_6216616del, NC_000001.10:g.6216611_6216616del, NC_000001.10:g.6216614_6216616del, NC_000001.10:g.6216615_6216616del, NC_000001.10:g.6216616del, NC_000001.10:g.6216616dup, NC_000001.10:g.6216615_6216616dup, NC_000001.10:g.6216614_6216616dup, NC_000001.10:g.6216613_6216616dup

Select item 14913394868.

rs1491339486 has merged into rs57522479 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT [Show Flanks]
Chromosome:: 1:6119873 (GRCh38)
1:6179933 (GRCh37)
Canonical SPDI:: NC_000001.11:6119864:TTTTTTTTTTTT:TTTTTTTT,NC_000001.11:6119864:TTTTTTTTTTTT:TTTTTTTTT,NC_000001.11:6119864:TTTTTTTTTTTT:TTTTTTTTTT,NC_000001.11:6119864:TTTTTTTTTTTT:TTTTTTTTTTT,NC_000001.11:6119864:TTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:6119864:TTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:6119864:TTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:6119864:TTTTTTTTTTTT:TTTTTTTTTTTTTTTT
Gene:: CHD5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000001.11:g.6119873_6119876del, NC_000001.11:g.6119874_6119876del, NC_000001.11:g.6119875_6119876del, NC_000001.11:g.6119876del, NC_000001.11:g.6119876dup, NC_000001.11:g.6119875_6119876dup, NC_000001.11:g.6119874_6119876dup, NC_000001.11:g.6119873_6119876dup, NC_000001.10:g.6179933_6179936del, NC_000001.10:g.6179934_6179936del, NC_000001.10:g.6179935_6179936del, NC_000001.10:g.6179936del, NC_000001.10:g.6179936dup, NC_000001.10:g.6179935_6179936dup, NC_000001.10:g.6179934_6179936dup, NC_000001.10:g.6179933_6179936dup

Select item 14913309559.

rs1491330955 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TATG [Show Flanks]
Chromosome:: 1:6150369 (GRCh38)
1:6210430 (GRCh37)
Canonical SPDI:: NC_000001.11:6150369:ATG:ATGTATG
Gene:: CHD5 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000001.11:g.6150372_6150373insTATG, NC_000001.10:g.6210432_6210433insTATG

Select item 149132428310.

rs1491324283 [Homo sapiens]

Variant type:: DEL
Alleles:: TC>- [Show Flanks]
Chromosome:: 1:6166276 (GRCh38)
1:6226336 (GRCh37)
Canonical SPDI:: NC_000001.11:6166275:TC:
Gene:: CHD5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00022/1 (ALFA)
-=0.00022/1 (Estonian)
-=0.00039/6 (TOMMO)
HGVS:: NC_000001.11:g.6166276_6166277del, NC_000001.10:g.6226336_6226337del

Select item 149125904811.

rs1491259048 has merged into rs1474635553 [Homo sapiens]

Variant type:: DELINS
Alleles:: GGGATGA>-,GGGATGAGGGATGA [Show Flanks]
Chromosome:: 1:6107733 (GRCh38)
1:6167793 (GRCh37)
Canonical SPDI:: NC_000001.11:6107723:GAGGGATGAGGGATGA:GAGGGATGA,NC_000001.11:6107723:GAGGGATGAGGGATGA:GAGGGATGAGGGATGAGGGATGA
Gene:: CHD5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GAGGGATGAGGGATGAGGGATGA=0./0 (ALFA)
-=0.0001/2 (TOMMO)
HGVS:: NC_000001.11:g.6107726GGGATGA[1], NC_000001.11:g.6107726GGGATGA[3], NC_000001.10:g.6167786GGGATGA[1], NC_000001.10:g.6167786GGGATGA[3]

Select item 149125556512.

rs1491255565 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 1:6104619 (GRCh38)
1:6164680 (GRCh37)
Canonical SPDI:: NC_000001.11:6104619::A
Gene:: CHD5 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000256/31 (GnomAD)
HGVS:: NC_000001.11:g.6104619_6104620insA, NC_000001.10:g.6164679_6164680insA, NM_015557.3:c.*854_*855insT, NM_015557.2:c.*854_*855insT

Select item 149124999013.

rs1491249990 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>- [Show Flanks]
Chromosome:: 1:6119777 (GRCh38)
1:6179837 (GRCh37)
Canonical SPDI:: NC_000001.11:6119774:ATAT:AT
Gene:: CHD5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATAT=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.6119775AT[1], NC_000001.10:g.6179835AT[1]

Select item 149123815214.

rs1491238152 [Homo sapiens]

Variant type:: SNV:
Alleles:: >
Chromosome:: no mapping
Canonical SPDI:

Select item 149123274215.

rs1491232742 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 1:6159006 (GRCh38)
1:6219066 (GRCh37)
Canonical SPDI:: NC_000001.11:6159005:CA:
Gene:: CHD5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.6159006_6159007del, NC_000001.10:g.6219066_6219067del

Select item 149110786216.

rs1491107862 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,T [Show Flanks]
Chromosome:: 1:6115026 (GRCh38)
1:6175087 (GRCh37)
Canonical SPDI:: NC_000001.11:6115026::A,NC_000001.11:6115026::T
Gene:: CHD5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000008/1 (GnomAD)
HGVS:: NC_000001.11:g.6115026_6115027insA, NC_000001.11:g.6115026_6115027insT, NC_000001.10:g.6175086_6175087insA, NC_000001.10:g.6175086_6175087insT

Select item 149108066417.

rs1491080664 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 1:6102288 (GRCh38)
1:6162348 (GRCh37)
Canonical SPDI:: NC_000001.11:6102284:ACACA:ACA
Gene:: CHD5 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: ACA=0./0 (ALFA)
-=0.000021/3 (GnomAD)
HGVS:: NC_000001.11:g.6102286CA[1], NC_000001.10:g.6162346CA[1], NG_047091.1:g.114989CA[1], NM_015557.3:c.*3186GT[1], NM_015557.2:c.*3186GT[1]

Select item 149096183618.

rs1490961836 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:6159766 (GRCh38)
1:6219826 (GRCh37)
Canonical SPDI:: NC_000001.11:6159765:G:A
Gene:: CHD5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000106/3 (TOMMO)
HGVS:: NC_000001.11:g.6159766G>A, NC_000001.10:g.6219826G>A

Select item 149091408019.

rs1490914080 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:6174495 (GRCh38)
1:6234555 (GRCh37)
Canonical SPDI:: NC_000001.11:6174494:T:C
Gene:: CHD5 (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)
C=0.000082/1 (TOMMO)
HGVS:: NC_000001.11:g.6174495T>C, NC_000001.10:g.6234555T>C

Select item 149085190920.

rs1490851909 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:6172041 (GRCh38)
1:6232101 (GRCh37)
Canonical SPDI:: NC_000001.11:6172040:G:A
Gene:: CHD5 (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_000001.11:g.6172041G>A, NC_000001.10:g.6232101G>A

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