SNP Links for Gene (Select 7266) - SNP

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Select item 14915823201.

rs1491582320 has merged into rs60604224 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTTTTTTTT [Show Flanks]
Chromosome:: 17:42008426 (GRCh38)
17:40160444 (GRCh37)
Canonical SPDI:: NC_000017.11:42008416:TTTTTTTTTTT:TTTTTTTTT,NC_000017.11:42008416:TTTTTTTTTTT:TTTTTTTTTT,NC_000017.11:42008416:TTTTTTTTTTT:TTTTTTTTTTTT,NC_000017.11:42008416:TTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT
Gene:: DNAJC7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
T=0.0233/14 (NorthernSweden)
T=0.025/1 (GENOME_DK)
T=0.0252/97 (ALSPAC)
T=0.0262/97 (TWINSUK)
T=0.0372/186 (1000Genomes)
HGVS:: NC_000017.11:g.42008426_42008427del, NC_000017.11:g.42008427del, NC_000017.11:g.42008427dup, NC_000017.11:g.42008420_42008427dup, NC_000017.10:g.40160444_40160445del, NC_000017.10:g.40160445del, NC_000017.10:g.40160445dup, NC_000017.10:g.40160438_40160445dup, NW_003571052.1:g.295068_295069del, NW_003571052.1:g.295069del, NW_003571052.1:g.295069dup, NW_003571052.1:g.295062_295069dup

Select item 14915423482.

rs1491542348 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 17:41994519 (GRCh38)
17:40146537 (GRCh37)
Canonical SPDI:: NC_000017.11:41994518:CA:
Gene:: DNAJC7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00042/5 (ALFA)
-=0.00047/13 (TOMMO)
HGVS:: NC_000017.11:g.41994519_41994520del, NC_000017.10:g.40146537_40146538del, NW_003571052.1:g.281161_281162del

Select item 14912672673.

rs1491267267 [Homo sapiens]

Variant type:: INS
Alleles:: ->ATATAGATATAGA [Show Flanks]
Chromosome:: 17:42008417 (GRCh38)
17:40160436 (GRCh37)
Canonical SPDI:: NC_000017.11:42008417::ATATAGATATAGA
Gene:: DNAJC7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: ATATAGATATAGA=0./0 (ALFA)
ATATAGATATAGA=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.42008417_42008418insATATAGATATAGA, NC_000017.10:g.40160435_40160436insATATAGATATAGA, NW_003571052.1:g.295059_295060insATATAGATATAGA

Select item 14912250384.

rs1491225038 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 17:42016798 (GRCh38)
17:40168816 (GRCh37)
Canonical SPDI:: NC_000017.11:42016794:TCTCT:TCT
Gene:: DNAJC7 (Varview), NKIRAS2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCT=0./0 (ALFA)
-=0.000057/15 (TOPMED)
-=0.000064/9 (GnomAD)
HGVS:: NC_000017.11:g.42016796CT[1], NC_000017.10:g.40168814CT[1], NW_003571052.1:g.303438CT[1]

Select item 14912072055.

rs1491207205 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 17:42016795 (GRCh38)
17:40168814 (GRCh37)
Canonical SPDI:: NC_000017.11:42016795:C:CC
Gene:: DNAJC7 (Varview), NKIRAS2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.42016796dup, NC_000017.10:g.40168814dup, NW_003571052.1:g.303438dup

Select item 14911928286.

rs1491192828 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 17:42008416 (GRCh38)
17:40160434 (GRCh37)
Canonical SPDI:: NC_000017.11:42008415:AT:
Gene:: DNAJC7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000017.11:g.42008416_42008417del, NC_000017.10:g.40160434_40160435del, NW_003571052.1:g.295058_295059del

Select item 14911855527.

rs1491185552 has merged into rs68006925 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAA>-,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 17:41994530 (GRCh38)
17:40146548 (GRCh37)
Canonical SPDI:: NC_000017.11:41994519:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000017.11:41994519:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000017.11:41994519:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000017.11:41994519:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000017.11:41994519:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000017.11:41994519:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000017.11:41994519:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000017.11:41994519:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000017.11:41994519:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000017.11:41994519:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000017.11:41994519:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:41994519:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:41994519:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:41994519:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:41994519:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:41994519:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:41994519:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:41994519:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:41994519:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:41994519:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: DNAJC7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000017.11:g.41994530_41994545del, NC_000017.11:g.41994533_41994545del, NC_000017.11:g.41994534_41994545del, NC_000017.11:g.41994535_41994545del, NC_000017.11:g.41994536_41994545del, NC_000017.11:g.41994537_41994545del, NC_000017.11:g.41994538_41994545del, NC_000017.11:g.41994539_41994545del, NC_000017.11:g.41994540_41994545del, NC_000017.11:g.41994541_41994545del, NC_000017.11:g.41994542_41994545del, NC_000017.11:g.41994543_41994545del, NC_000017.11:g.41994544_41994545del, NC_000017.11:g.41994545del, NC_000017.11:g.41994545dup, NC_000017.11:g.41994544_41994545dup, NC_000017.11:g.41994543_41994545dup, NC_000017.11:g.41994542_41994545dup, NC_000017.11:g.41994541_41994545dup, NC_000017.11:g.41994537_41994545dup, NC_000017.10:g.40146548_40146563del, NC_000017.10:g.40146551_40146563del, NC_000017.10:g.40146552_40146563del, NC_000017.10:g.40146553_40146563del, NC_000017.10:g.40146554_40146563del, NC_000017.10:g.40146555_40146563del, NC_000017.10:g.40146556_40146563del, NC_000017.10:g.40146557_40146563del, NC_000017.10:g.40146558_40146563del, NC_000017.10:g.40146559_40146563del, NC_000017.10:g.40146560_40146563del, NC_000017.10:g.40146561_40146563del, NC_000017.10:g.40146562_40146563del, NC_000017.10:g.40146563del, NC_000017.10:g.40146563dup, NC_000017.10:g.40146562_40146563dup, NC_000017.10:g.40146561_40146563dup, NC_000017.10:g.40146560_40146563dup, NC_000017.10:g.40146559_40146563dup, NC_000017.10:g.40146555_40146563dup, NW_003571052.1:g.281172_281187del, NW_003571052.1:g.281175_281187del, NW_003571052.1:g.281176_281187del, NW_003571052.1:g.281177_281187del, NW_003571052.1:g.281178_281187del, NW_003571052.1:g.281179_281187del, NW_003571052.1:g.281180_281187del, NW_003571052.1:g.281181_281187del, NW_003571052.1:g.281182_281187del, NW_003571052.1:g.281183_281187del, NW_003571052.1:g.281184_281187del, NW_003571052.1:g.281185_281187del, NW_003571052.1:g.281186_281187del, NW_003571052.1:g.281187del, NW_003571052.1:g.281187dup, NW_003571052.1:g.281186_281187dup, NW_003571052.1:g.281185_281187dup, NW_003571052.1:g.281184_281187dup, NW_003571052.1:g.281183_281187dup, NW_003571052.1:g.281179_281187dup

Select item 14911748438.

rs1491174843 has merged into rs60604224 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTTTTTTTT [Show Flanks]
Chromosome:: 17:42008426 (GRCh38)
17:40160444 (GRCh37)
Canonical SPDI:: NC_000017.11:42008416:TTTTTTTTTTT:TTTTTTTTT,NC_000017.11:42008416:TTTTTTTTTTT:TTTTTTTTTT,NC_000017.11:42008416:TTTTTTTTTTT:TTTTTTTTTTTT,NC_000017.11:42008416:TTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT
Gene:: DNAJC7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
T=0.0233/14 (NorthernSweden)
T=0.025/1 (GENOME_DK)
T=0.0252/97 (ALSPAC)
T=0.0262/97 (TWINSUK)
T=0.0372/186 (1000Genomes)
HGVS:: NC_000017.11:g.42008426_42008427del, NC_000017.11:g.42008427del, NC_000017.11:g.42008427dup, NC_000017.11:g.42008420_42008427dup, NC_000017.10:g.40160444_40160445del, NC_000017.10:g.40160445del, NC_000017.10:g.40160445dup, NC_000017.10:g.40160438_40160445dup, NW_003571052.1:g.295068_295069del, NW_003571052.1:g.295069del, NW_003571052.1:g.295069dup, NW_003571052.1:g.295062_295069dup

Select item 14909982069.

rs1490998206 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:41983186 (GRCh38)
17:40135204 (GRCh37)
Canonical SPDI:: NC_000017.11:41983185:G:A
Gene:: DNAJC7 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000019/5 (TOPMED)
HGVS:: NC_000017.11:g.41983186G>A, NC_000017.10:g.40135204G>A, NW_003571052.1:g.269828G>A

Select item 149085775810.

rs1490857758 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:42022037 (GRCh38)
17:40174055 (GRCh37)
Canonical SPDI:: NC_000017.11:42022036:C:T
Gene:: NKIRAS2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000017.11:g.42022037C>T, NC_000017.10:g.40174055C>T, NW_003571052.1:g.308679C>T

Select item 149079490511.

rs1490794905 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 17:42015160 (GRCh38)
17:40167178 (GRCh37)
Canonical SPDI:: NC_000017.11:42015159:A:C
Gene:: DNAJC7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000015/4 (TOPMED)
HGVS:: NC_000017.11:g.42015160A>C, NC_000017.10:g.40167178A>C, NW_003571052.1:g.301802A>C

Select item 149077632012.

rs1490776320 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 17:41999976 (GRCh38)
17:40151994 (GRCh37)
Canonical SPDI:: NC_000017.11:41999975:G:A,NC_000017.11:41999975:G:C
Gene:: DNAJC7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000015/2 (GnomAD)
HGVS:: NC_000017.11:g.41999976G>A, NC_000017.11:g.41999976G>C, NC_000017.10:g.40151994G>A, NC_000017.10:g.40151994G>C, NW_003571052.1:g.286618G>A, NW_003571052.1:g.286618G>C

Select item 149072303313.

rs1490723033 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:42014179 (GRCh38)
17:40166197 (GRCh37)
Canonical SPDI:: NC_000017.11:42014178:T:C
Gene:: DNAJC7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000017.11:g.42014179T>C, NC_000017.10:g.40166197T>C, NW_003571052.1:g.300821T>C

Select item 149069621314.

rs1490696213 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 17:41984282 (GRCh38)
17:40136300 (GRCh37)
Canonical SPDI:: NC_000017.11:41984281:C:A
Gene:: DNAJC7 (Varview)
Functional Consequence:: non_coding_transcript_variant,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_000017.11:g.41984282C>A, NC_000017.10:g.40136300C>A, NW_003571052.1:g.270924C>A, XR_001752603.3:n.2759G>T

Select item 149069595715.

rs1490695957 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:41998063 (GRCh38)
17:40150081 (GRCh37)
Canonical SPDI:: NC_000017.11:41998062:G:A
Gene:: DNAJC7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000084/1 (ALFA)
A=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.41998063G>A, NC_000017.10:g.40150081G>A, NW_003571052.1:g.284705G>A

Select item 149063080616.

rs1490630806 [Homo sapiens]

Variant type:: DEL
Alleles:: TT>- [Show Flanks]
Chromosome:: 17:42014626 (GRCh38)
17:40166644 (GRCh37)
Canonical SPDI:: NC_000017.11:42014625:TT:
Gene:: DNAJC7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000008/1 (GnomAD)
-=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.42014626_42014627del, NC_000017.10:g.40166644_40166645del, NW_003571052.1:g.301268_301269del

Select item 149053636817.

rs1490536368 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:41998786 (GRCh38)
17:40150804 (GRCh37)
Canonical SPDI:: NC_000017.11:41998785:G:T
Gene:: DNAJC7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.41998786G>T, NC_000017.10:g.40150804G>T, NW_003571052.1:g.285428G>T

Select item 149053093218.

rs1490530932 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:41997552 (GRCh38)
17:40149570 (GRCh37)
Canonical SPDI:: NC_000017.11:41997551:A:G
Gene:: DNAJC7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.41997552A>G, NC_000017.10:g.40149570A>G, NW_003571052.1:g.284194A>G

Select item 149049280619.

rs1490492806 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:42006150 (GRCh38)
17:40158168 (GRCh37)
Canonical SPDI:: NC_000017.11:42006149:T:C
Gene:: DNAJC7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000015/4 (TOPMED)
HGVS:: NC_000017.11:g.42006150T>C, NC_000017.10:g.40158168T>C, NW_003571052.1:g.292792T>C

Select item 149039267920.

rs1490392679 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 17:41990098 (GRCh38)
17:40142116 (GRCh37)
Canonical SPDI:: NC_000017.11:41990097:C:A,NC_000017.11:41990097:C:G,NC_000017.11:41990097:C:T
Gene:: DNAJC7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000017.11:g.41990098C>A, NC_000017.11:g.41990098C>G, NC_000017.11:g.41990098C>T, NC_000017.10:g.40142116C>A, NC_000017.10:g.40142116C>G, NC_000017.10:g.40142116C>T, NW_003571052.1:g.276740C>A, NW_003571052.1:g.276740C>G, NW_003571052.1:g.276740C>T

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