Links from Gene
Items: 1 to 20 of 37297
1.
rs1491554944 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 17:27507563
(GRCh38)
17:25834589
(GRCh37)
- Canonical SPDI:
- NC_000017.11:27507562:CT:
- Gene:
- KSR1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0.00017/2
(
ALFA)
-=0.00009/8
(GnomAD)
- HGVS:
2.
rs1491524159 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CT
[Show Flanks]
- Chromosome:
- 17:27501293
(GRCh38)
17:25828320
(GRCh37)
- Canonical SPDI:
- NC_000017.11:27501293:T:TCT
- Gene:
- KSR1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
TCT=0./0
(
ALFA)
TC=0.00641/71
(GnomAD)
- HGVS:
3.
rs1491522997 has merged into rs35172937 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 17:27558281
(GRCh38)
17:25885307
(GRCh37)
- Canonical SPDI:
- NC_000017.11:27558268:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000017.11:27558268:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000017.11:27558268:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000017.11:27558268:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000017.11:27558268:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000017.11:27558268:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000017.11:27558268:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000017.11:27558268:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000017.11:27558268:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000017.11:27558268:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:27558268:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:27558268:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:27558268:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:27558268:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:27558268:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:27558268:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:27558268:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- KSR1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTT=0./0
(
ALFA)
- HGVS:
NC_000017.11:g.27558281_27558283del, NC_000017.11:g.27558282_27558283del, NC_000017.11:g.27558283del, NC_000017.11:g.27558283dup, NC_000017.11:g.27558282_27558283dup, NC_000017.11:g.27558281_27558283dup, NC_000017.11:g.27558280_27558283dup, NC_000017.11:g.27558279_27558283dup, NC_000017.11:g.27558278_27558283dup, NC_000017.11:g.27558277_27558283dup, NC_000017.11:g.27558276_27558283dup, NC_000017.11:g.27558275_27558283dup, NC_000017.11:g.27558274_27558283dup, NC_000017.11:g.27558273_27558283dup, NC_000017.11:g.27558272_27558283dup, NC_000017.11:g.27558270_27558283dup, NC_000017.11:g.27558269_27558283dup, NC_000017.10:g.25885307_25885309del, NC_000017.10:g.25885308_25885309del, NC_000017.10:g.25885309del, NC_000017.10:g.25885309dup, NC_000017.10:g.25885308_25885309dup, NC_000017.10:g.25885307_25885309dup, NC_000017.10:g.25885306_25885309dup, NC_000017.10:g.25885305_25885309dup, NC_000017.10:g.25885304_25885309dup, NC_000017.10:g.25885303_25885309dup, NC_000017.10:g.25885302_25885309dup, NC_000017.10:g.25885301_25885309dup, NC_000017.10:g.25885300_25885309dup, NC_000017.10:g.25885299_25885309dup, NC_000017.10:g.25885298_25885309dup, NC_000017.10:g.25885296_25885309dup, NC_000017.10:g.25885295_25885309dup
4.
rs1491509300 has merged into rs34194473 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CCC>-,C,CC,CCCC,CCCCC,CCCCCC,CCCCCCC,CCCCCCCC,CCCCCCCCC,CCCCCCCCCC,CCCCCCCCCCC,CCCCCCCCCCCC,CCCCCCCCCCCCCC,CCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCC
[Show Flanks]
- Chromosome:
- 17:27564746
(GRCh38)
17:25891772
(GRCh37)
- Canonical SPDI:
- NC_000017.11:27564736:CCCCCCCCCCCC:CCCCCCCCC,NC_000017.11:27564736:CCCCCCCCCCCC:CCCCCCCCCC,NC_000017.11:27564736:CCCCCCCCCCCC:CCCCCCCCCCC,NC_000017.11:27564736:CCCCCCCCCCCC:CCCCCCCCCCCCC,NC_000017.11:27564736:CCCCCCCCCCCC:CCCCCCCCCCCCCC,NC_000017.11:27564736:CCCCCCCCCCCC:CCCCCCCCCCCCCCC,NC_000017.11:27564736:CCCCCCCCCCCC:CCCCCCCCCCCCCCCC,NC_000017.11:27564736:CCCCCCCCCCCC:CCCCCCCCCCCCCCCCC,NC_000017.11:27564736:CCCCCCCCCCCC:CCCCCCCCCCCCCCCCCC,NC_000017.11:27564736:CCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCC,NC_000017.11:27564736:CCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCC,NC_000017.11:27564736:CCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCC,NC_000017.11:27564736:CCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCC,NC_000017.11:27564736:CCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCC,NC_000017.11:27564736:CCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCC
- Gene:
- KSR1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CCCCCCCCCCCCC=0.0052/41
(
ALFA)
-=0.165/636
(ALSPAC)
- HGVS:
NC_000017.11:g.27564746_27564748del, NC_000017.11:g.27564747_27564748del, NC_000017.11:g.27564748del, NC_000017.11:g.27564748dup, NC_000017.11:g.27564747_27564748dup, NC_000017.11:g.27564746_27564748dup, NC_000017.11:g.27564745_27564748dup, NC_000017.11:g.27564744_27564748dup, NC_000017.11:g.27564743_27564748dup, NC_000017.11:g.27564742_27564748dup, NC_000017.11:g.27564741_27564748dup, NC_000017.11:g.27564740_27564748dup, NC_000017.11:g.27564738_27564748dup, NC_000017.11:g.27564737_27564748dup, NC_000017.11:g.27564748_27564749insCCCCCCCCCCCCC, NC_000017.10:g.25891772_25891774del, NC_000017.10:g.25891773_25891774del, NC_000017.10:g.25891774del, NC_000017.10:g.25891774dup, NC_000017.10:g.25891773_25891774dup, NC_000017.10:g.25891772_25891774dup, NC_000017.10:g.25891771_25891774dup, NC_000017.10:g.25891770_25891774dup, NC_000017.10:g.25891769_25891774dup, NC_000017.10:g.25891768_25891774dup, NC_000017.10:g.25891767_25891774dup, NC_000017.10:g.25891766_25891774dup, NC_000017.10:g.25891764_25891774dup, NC_000017.10:g.25891763_25891774dup, NC_000017.10:g.25891774_25891775insCCCCCCCCCCCCC
5.
rs1491508101 has merged into rs35172937 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 17:27558281
(GRCh38)
17:25885307
(GRCh37)
- Canonical SPDI:
- NC_000017.11:27558268:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000017.11:27558268:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000017.11:27558268:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000017.11:27558268:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000017.11:27558268:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000017.11:27558268:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000017.11:27558268:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000017.11:27558268:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000017.11:27558268:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000017.11:27558268:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:27558268:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:27558268:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:27558268:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:27558268:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:27558268:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:27558268:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:27558268:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- KSR1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTT=0./0
(
ALFA)
- HGVS:
NC_000017.11:g.27558281_27558283del, NC_000017.11:g.27558282_27558283del, NC_000017.11:g.27558283del, NC_000017.11:g.27558283dup, NC_000017.11:g.27558282_27558283dup, NC_000017.11:g.27558281_27558283dup, NC_000017.11:g.27558280_27558283dup, NC_000017.11:g.27558279_27558283dup, NC_000017.11:g.27558278_27558283dup, NC_000017.11:g.27558277_27558283dup, NC_000017.11:g.27558276_27558283dup, NC_000017.11:g.27558275_27558283dup, NC_000017.11:g.27558274_27558283dup, NC_000017.11:g.27558273_27558283dup, NC_000017.11:g.27558272_27558283dup, NC_000017.11:g.27558270_27558283dup, NC_000017.11:g.27558269_27558283dup, NC_000017.10:g.25885307_25885309del, NC_000017.10:g.25885308_25885309del, NC_000017.10:g.25885309del, NC_000017.10:g.25885309dup, NC_000017.10:g.25885308_25885309dup, NC_000017.10:g.25885307_25885309dup, NC_000017.10:g.25885306_25885309dup, NC_000017.10:g.25885305_25885309dup, NC_000017.10:g.25885304_25885309dup, NC_000017.10:g.25885303_25885309dup, NC_000017.10:g.25885302_25885309dup, NC_000017.10:g.25885301_25885309dup, NC_000017.10:g.25885300_25885309dup, NC_000017.10:g.25885299_25885309dup, NC_000017.10:g.25885298_25885309dup, NC_000017.10:g.25885296_25885309dup, NC_000017.10:g.25885295_25885309dup
6.
rs1491436460 has merged into rs60220711 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TT>-,TTT,TTTCTTTT,TTTCTTTTCTTTT,TTTCTTTTCTTTTCTTTT,TTTCTTTTCTTTTCTTTTCTTTT,TTTCTTTTCTTTTCTTTTCTTTTCTTTT
[Show Flanks]
- Chromosome:
- 17:27526044
(GRCh38)
17:25853070
(GRCh37)
- Canonical SPDI:
- NC_000017.11:27526042:TTT:T,NC_000017.11:27526042:TTT:TTTT,NC_000017.11:27526042:TTT:TTTTCTTTT,NC_000017.11:27526042:TTT:TTTTCTTTTCTTTT,NC_000017.11:27526042:TTT:TTTTCTTTTCTTTTCTTTT,NC_000017.11:27526042:TTT:TTTTCTTTTCTTTTCTTTTCTTTT,NC_000017.11:27526042:TTT:TTTTCTTTTCTTTTCTTTTCTTTTCTTTT
- Gene:
- KSR1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000017.11:g.27526044_27526045del, NC_000017.11:g.27526045dup, NC_000017.11:g.27526043_27526045T[4]CTTTT[1], NC_000017.11:g.27526043_27526045TTTTC[2]T[4], NC_000017.11:g.27526043_27526045TTTTC[3]T[4], NC_000017.11:g.27526043_27526045TTTTC[4]T[4], NC_000017.11:g.27526043_27526045TTTTC[5]T[4], NC_000017.10:g.25853070_25853071del, NC_000017.10:g.25853071dup, NC_000017.10:g.25853069_25853071T[4]CTTTT[1], NC_000017.10:g.25853069_25853071TTTTC[2]T[4], NC_000017.10:g.25853069_25853071TTTTC[3]T[4], NC_000017.10:g.25853069_25853071TTTTC[4]T[4], NC_000017.10:g.25853069_25853071TTTTC[5]T[4], NG_026162.3:g.1324_1325del, NG_026162.3:g.1325dup, NG_026162.3:g.1323_1325A[4]GAAAA[1], NG_026162.3:g.1323_1325AAAAG[2]A[4], NG_026162.3:g.1323_1325AAAAG[3]A[4], NG_026162.3:g.1323_1325AAAAG[4]A[4], NG_026162.3:g.1323_1325AAAAG[5]A[4]
7.
rs1491434928 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->TCTT,TCTTTTCTT,TCTTTTCTTTTCATT,TCTTTTCTTTTCTT,TCTTTTCTTTTCTTTTCTT
[Show Flanks]
- Chromosome:
- 17:27526043
(GRCh38)
17:25853070
(GRCh37)
- Canonical SPDI:
- NC_000017.11:27526043:TT:TTTCTT,NC_000017.11:27526043:TT:TTTCTTTTCTT,NC_000017.11:27526043:TT:TTTCTTTTCTTTTCATT,NC_000017.11:27526043:TT:TTTCTTTTCTTTTCTT,NC_000017.11:27526043:TT:TTTCTTTTCTTTTCTTTTCTT
- Gene:
- KSR1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
TTTCTTTTCTT=0./0
(
ALFA)
TTTCTTTTCTTTTCA=0.00003/2
(GnomAD)
- HGVS:
NC_000017.11:g.27526045_27526046insTCTT, NC_000017.11:g.27526044_27526045TTTCT[2]T[1], NC_000017.11:g.27526044_27526045TTTCT[2]TTTCATT[1], NC_000017.11:g.27526044_27526045TTTCT[3]T[1], NC_000017.11:g.27526044_27526045TTTCT[4]T[1], NC_000017.10:g.25853071_25853072insTCTT, NC_000017.10:g.25853070_25853071TTTCT[2]T[1], NC_000017.10:g.25853070_25853071TTTCT[2]TTTCATT[1], NC_000017.10:g.25853070_25853071TTTCT[3]T[1], NC_000017.10:g.25853070_25853071TTTCT[4]T[1], NG_026162.3:g.1324_1325insGAAA, NG_026162.3:g.1323_1324AAGAA[2]A[1], NG_026162.3:g.1324_1325insTGAAAAGAAAAGAAA, NG_026162.3:g.1323_1324AAGAA[3]A[1], NG_026162.3:g.1323_1324AAGAA[4]A[1]
8.
rs1491399855 has merged into rs55737393 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CTCTCTCT>-,CT,CTCT,CTCTCT,CTCTCTCTCT,CTCTCTCTCTCT
[Show Flanks]
- Chromosome:
- 17:27526056
(GRCh38)
17:25853082
(GRCh37)
- Canonical SPDI:
- NC_000017.11:27526044:TCTCTCTCTCTCTCTCTCT:TCTCTCTCTCT,NC_000017.11:27526044:TCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCT,NC_000017.11:27526044:TCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCT,NC_000017.11:27526044:TCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCT,NC_000017.11:27526044:TCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCT,NC_000017.11:27526044:TCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCT
- Gene:
- KSR1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TCTCTCTCTCTCT=0./0
(
ALFA)
-=0.00336/6
(Korea1K)
-=0.00358/59
(TOMMO)
-=0.02534/15
(NorthernSweden)
-=0.07343/283
(ALSPAC)
- HGVS:
NC_000017.11:g.27526046CT[5], NC_000017.11:g.27526046CT[6], NC_000017.11:g.27526046CT[7], NC_000017.11:g.27526046CT[8], NC_000017.11:g.27526046CT[10], NC_000017.11:g.27526046CT[11], NC_000017.10:g.25853072CT[5], NC_000017.10:g.25853072CT[6], NC_000017.10:g.25853072CT[7], NC_000017.10:g.25853072CT[8], NC_000017.10:g.25853072CT[10], NC_000017.10:g.25853072CT[11], NG_026162.3:g.1306GA[5], NG_026162.3:g.1306GA[6], NG_026162.3:g.1306GA[7], NG_026162.3:g.1306GA[8], NG_026162.3:g.1306GA[10], NG_026162.3:g.1306GA[11]
11.
rs1491267335 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CCTTT
[Show Flanks]
- Chromosome:
- 17:27526001
(GRCh38)
17:25853028
(GRCh37)
- Canonical SPDI:
- NC_000017.11:27526001:CTTT:CTTTCCTTT
- Gene:
- KSR1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency
- MAF:
CTTTC=0.00001/1
(GnomAD)
- HGVS:
12.
rs1491225319 has merged into rs751092460 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 17:27507575
(GRCh38)
17:25834601
(GRCh37)
- Canonical SPDI:
- NC_000017.11:27507563:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000017.11:27507563:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000017.11:27507563:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000017.11:27507563:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000017.11:27507563:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000017.11:27507563:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000017.11:27507563:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000017.11:27507563:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000017.11:27507563:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000017.11:27507563:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000017.11:27507563:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000017.11:27507563:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:27507563:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:27507563:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:27507563:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:27507563:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:27507563:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:27507563:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:27507563:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:27507563:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:27507563:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:27507563:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:27507563:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:27507563:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:27507563:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:27507563:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:27507563:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:27507563:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:27507563:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:27507563:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:27507563:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- KSR1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTT=0./0
(
ALFA)
TTTTTTTTTTTTTT=0./0
(GENOME_DK)
-=0.2701/1041
(ALSPAC)
- HGVS:
NC_000017.11:g.27507575_27507593del, NC_000017.11:g.27507576_27507593del, NC_000017.11:g.27507577_27507593del, NC_000017.11:g.27507578_27507593del, NC_000017.11:g.27507579_27507593del, NC_000017.11:g.27507580_27507593del, NC_000017.11:g.27507581_27507593del, NC_000017.11:g.27507582_27507593del, NC_000017.11:g.27507583_27507593del, NC_000017.11:g.27507584_27507593del, NC_000017.11:g.27507585_27507593del, NC_000017.11:g.27507586_27507593del, NC_000017.11:g.27507587_27507593del, NC_000017.11:g.27507588_27507593del, NC_000017.11:g.27507589_27507593del, NC_000017.11:g.27507590_27507593del, NC_000017.11:g.27507591_27507593del, NC_000017.11:g.27507592_27507593del, NC_000017.11:g.27507593del, NC_000017.11:g.27507593dup, NC_000017.11:g.27507592_27507593dup, NC_000017.11:g.27507591_27507593dup, NC_000017.11:g.27507564_27507593T[33]GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000017.11:g.27507590_27507593dup, NC_000017.11:g.27507589_27507593dup, NC_000017.11:g.27507588_27507593dup, NC_000017.11:g.27507587_27507593dup, NC_000017.11:g.27507586_27507593dup, NC_000017.11:g.27507580_27507593dup, NC_000017.11:g.27507579_27507593dup, NC_000017.11:g.27507568_27507593dup, NC_000017.10:g.25834601_25834619del, NC_000017.10:g.25834602_25834619del, NC_000017.10:g.25834603_25834619del, NC_000017.10:g.25834604_25834619del, NC_000017.10:g.25834605_25834619del, NC_000017.10:g.25834606_25834619del, NC_000017.10:g.25834607_25834619del, NC_000017.10:g.25834608_25834619del, NC_000017.10:g.25834609_25834619del, NC_000017.10:g.25834610_25834619del, NC_000017.10:g.25834611_25834619del, NC_000017.10:g.25834612_25834619del, NC_000017.10:g.25834613_25834619del, NC_000017.10:g.25834614_25834619del, NC_000017.10:g.25834615_25834619del, NC_000017.10:g.25834616_25834619del, NC_000017.10:g.25834617_25834619del, NC_000017.10:g.25834618_25834619del, NC_000017.10:g.25834619del, NC_000017.10:g.25834619dup, NC_000017.10:g.25834618_25834619dup, NC_000017.10:g.25834617_25834619dup, NC_000017.10:g.25834590_25834619T[33]GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000017.10:g.25834616_25834619dup, NC_000017.10:g.25834615_25834619dup, NC_000017.10:g.25834614_25834619dup, NC_000017.10:g.25834613_25834619dup, NC_000017.10:g.25834612_25834619dup, NC_000017.10:g.25834606_25834619dup, NC_000017.10:g.25834605_25834619dup, NC_000017.10:g.25834594_25834619dup
13.
Error occurred: cannot get document summary
14.
rs1491104725 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 17:27526093
(GRCh38)
17:25853120
(GRCh37)
- Canonical SPDI:
- NC_000017.11:27526093::C
- Gene:
- KSR1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by cluster
- MAF:
C=0.00006/1
(TOMMO)
C=0.00067/53
(GnomAD)
- HGVS:
16.
rs1490969186 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- ATC>-
[Show Flanks]
- Chromosome:
- 17:27549804
(GRCh38)
17:25876830
(GRCh37)
- Canonical SPDI:
- NC_000017.11:27549803:ATC:
- Gene:
- KSR1 (Varview), LOC124903960 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
-=0.000008/2
(TOPMED)
- HGVS:
17.
rs1490939964 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 17:27616779
(GRCh38)
17:25943805
(GRCh37)
- Canonical SPDI:
- NC_000017.11:27616778:A:C
- Gene:
- KSR1 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
- HGVS:
18.
rs1490918317 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 17:27530289
(GRCh38)
17:25857315
(GRCh37)
- Canonical SPDI:
- NC_000017.11:27530288:A:T
- Gene:
- KSR1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000014/2
(GnomAD)
- HGVS:
19.
rs1490904103 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 17:27461555
(GRCh38)
17:25788581
(GRCh37)
- Canonical SPDI:
- NC_000017.11:27461554:C:T
- Gene:
- KSR1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.000071/1
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
20.
rs1490884157 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 17:27495055
(GRCh38)
17:25822081
(GRCh37)
- Canonical SPDI:
- NC_000017.11:27495054:C:T
- Gene:
- KSR1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000014/2
(GnomAD)
- HGVS: