Links from Gene
Items: 1 to 20 of 1000
1.
rs1491532729 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CC>-
[Show Flanks]
- Chromosome:
- 10:13206811
(GRCh38)
10:13248811
(GRCh37)
- Canonical SPDI:
- NC_000010.11:13206810:CC:
- Gene:
- MCM10 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.00496/81
(
ALFA)
-=0.00833/5
(NorthernSweden)
-=0.00908/35
(ALSPAC)
-=0.01294/48
(TWINSUK)
- HGVS:
2.
rs1491507694 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 10:13177508
(GRCh38)
10:13219508
(GRCh37)
- Canonical SPDI:
- NC_000010.11:13177507:CT:
- Gene:
- MCM10 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000023/2
(GnomAD)
- HGVS:
3.
rs1491491160 has merged into rs60316855 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTATTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 10:13177518
(GRCh38)
10:13219518
(GRCh37)
- Canonical SPDI:
- NC_000010.11:13177508:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000010.11:13177508:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000010.11:13177508:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000010.11:13177508:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000010.11:13177508:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000010.11:13177508:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000010.11:13177508:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000010.11:13177508:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000010.11:13177508:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000010.11:13177508:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000010.11:13177508:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000010.11:13177508:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000010.11:13177508:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:13177508:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:13177508:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:13177508:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:13177508:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:13177508:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:13177508:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:13177508:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:13177508:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:13177508:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:13177508:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:13177508:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:13177508:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:13177508:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:13177508:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:13177508:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:13177508:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:13177508:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:13177508:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:13177508:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:13177508:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:13177508:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:13177508:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:13177508:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:13177508:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:13177508:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- MCM10 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTT=0./0
(
ALFA)
TTTTTTTTT=0.132/661
(1000Genomes)
- HGVS:
NC_000010.11:g.13177518_13177531del, NC_000010.11:g.13177520_13177531del, NC_000010.11:g.13177521_13177531del, NC_000010.11:g.13177522_13177531del, NC_000010.11:g.13177523_13177531del, NC_000010.11:g.13177524_13177531del, NC_000010.11:g.13177525_13177531del, NC_000010.11:g.13177526_13177531del, NC_000010.11:g.13177527_13177531del, NC_000010.11:g.13177528_13177531del, NC_000010.11:g.13177529_13177531del, NC_000010.11:g.13177530_13177531del, NC_000010.11:g.13177531del, NC_000010.11:g.13177531dup, NC_000010.11:g.13177509_13177531T[24]ATTTTTTTTTTT[2]T[22], NC_000010.11:g.13177530_13177531dup, NC_000010.11:g.13177529_13177531dup, NC_000010.11:g.13177528_13177531dup, NC_000010.11:g.13177527_13177531dup, NC_000010.11:g.13177526_13177531dup, NC_000010.11:g.13177525_13177531dup, NC_000010.11:g.13177524_13177531dup, NC_000010.11:g.13177523_13177531dup, NC_000010.11:g.13177522_13177531dup, NC_000010.11:g.13177521_13177531dup, NC_000010.11:g.13177520_13177531dup, NC_000010.11:g.13177519_13177531dup, NC_000010.11:g.13177518_13177531dup, NC_000010.11:g.13177517_13177531dup, NC_000010.11:g.13177515_13177531dup, NC_000010.11:g.13177512_13177531dup, NC_000010.11:g.13177511_13177531dup, NC_000010.11:g.13177510_13177531dup, NC_000010.11:g.13177509_13177531dup, NC_000010.11:g.13177531_13177532insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.11:g.13177531_13177532insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.11:g.13177531_13177532insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.11:g.13177531_13177532insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.10:g.13219518_13219531del, NC_000010.10:g.13219520_13219531del, NC_000010.10:g.13219521_13219531del, NC_000010.10:g.13219522_13219531del, NC_000010.10:g.13219523_13219531del, NC_000010.10:g.13219524_13219531del, NC_000010.10:g.13219525_13219531del, NC_000010.10:g.13219526_13219531del, NC_000010.10:g.13219527_13219531del, NC_000010.10:g.13219528_13219531del, NC_000010.10:g.13219529_13219531del, NC_000010.10:g.13219530_13219531del, NC_000010.10:g.13219531del, NC_000010.10:g.13219531dup, NC_000010.10:g.13219509_13219531T[24]ATTTTTTTTTTT[2]T[22], NC_000010.10:g.13219530_13219531dup, NC_000010.10:g.13219529_13219531dup, NC_000010.10:g.13219528_13219531dup, NC_000010.10:g.13219527_13219531dup, NC_000010.10:g.13219526_13219531dup, NC_000010.10:g.13219525_13219531dup, NC_000010.10:g.13219524_13219531dup, NC_000010.10:g.13219523_13219531dup, NC_000010.10:g.13219522_13219531dup, NC_000010.10:g.13219521_13219531dup, NC_000010.10:g.13219520_13219531dup, NC_000010.10:g.13219519_13219531dup, NC_000010.10:g.13219518_13219531dup, NC_000010.10:g.13219517_13219531dup, NC_000010.10:g.13219515_13219531dup, NC_000010.10:g.13219512_13219531dup, NC_000010.10:g.13219511_13219531dup, NC_000010.10:g.13219510_13219531dup, NC_000010.10:g.13219509_13219531dup, NC_000010.10:g.13219531_13219532insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.10:g.13219531_13219532insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.10:g.13219531_13219532insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.10:g.13219531_13219532insTTTTTTTTTTTTTTTTTTTTTTTTTTT
5.
rs1491404028 has merged into rs1252182951 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AA>-,A,AAA,AAAA,AAAAA
[Show Flanks]
- Chromosome:
- 10:13166649
(GRCh38)
10:13208649
(GRCh37)
- Canonical SPDI:
- NC_000010.11:13166635:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000010.11:13166635:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000010.11:13166635:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000010.11:13166635:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000010.11:13166635:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA
- Gene:
- MCM10 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAA=0./0
(
ALFA)
- HGVS:
6.
rs1491402417 has merged into rs139116646 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 10:13174148
(GRCh38)
10:13216148
(GRCh37)
- Canonical SPDI:
- NC_000010.11:13174134:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000010.11:13174134:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000010.11:13174134:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000010.11:13174134:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000010.11:13174134:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000010.11:13174134:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000010.11:13174134:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000010.11:13174134:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000010.11:13174134:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000010.11:13174134:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:13174134:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:13174134:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:13174134:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:13174134:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:13174134:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:13174134:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:13174134:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:13174134:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:13174134:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- MCM10 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTT=0./0
(
ALFA)
- HGVS:
NC_000010.11:g.13174148_13174160del, NC_000010.11:g.13174149_13174160del, NC_000010.11:g.13174150_13174160del, NC_000010.11:g.13174151_13174160del, NC_000010.11:g.13174152_13174160del, NC_000010.11:g.13174153_13174160del, NC_000010.11:g.13174154_13174160del, NC_000010.11:g.13174155_13174160del, NC_000010.11:g.13174156_13174160del, NC_000010.11:g.13174157_13174160del, NC_000010.11:g.13174158_13174160del, NC_000010.11:g.13174159_13174160del, NC_000010.11:g.13174160del, NC_000010.11:g.13174160dup, NC_000010.11:g.13174159_13174160dup, NC_000010.11:g.13174158_13174160dup, NC_000010.11:g.13174157_13174160dup, NC_000010.11:g.13174156_13174160dup, NC_000010.11:g.13174151_13174160dup, NC_000010.10:g.13216148_13216160del, NC_000010.10:g.13216149_13216160del, NC_000010.10:g.13216150_13216160del, NC_000010.10:g.13216151_13216160del, NC_000010.10:g.13216152_13216160del, NC_000010.10:g.13216153_13216160del, NC_000010.10:g.13216154_13216160del, NC_000010.10:g.13216155_13216160del, NC_000010.10:g.13216156_13216160del, NC_000010.10:g.13216157_13216160del, NC_000010.10:g.13216158_13216160del, NC_000010.10:g.13216159_13216160del, NC_000010.10:g.13216160del, NC_000010.10:g.13216160dup, NC_000010.10:g.13216159_13216160dup, NC_000010.10:g.13216158_13216160dup, NC_000010.10:g.13216157_13216160dup, NC_000010.10:g.13216156_13216160dup, NC_000010.10:g.13216151_13216160dup
7.
rs1491379684 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TA>-,TATA,TATATA,TATATATA,TATATATATA,TATATATATATA,TATATATATATATA,TATATATATATATATA,TATATATATATATATATA,TATATATATATATATATATA,TATATATATATATATATATATA,TATATATATATATATATATATATA,TATATATATATATATATATATATATATA
[Show Flanks]
- Chromosome:
- 10:13166659
(GRCh38)
10:13208659
(GRCh37)
- Canonical SPDI:
- NC_000010.11:13166657:ATA:A,NC_000010.11:13166657:ATA:ATATA,NC_000010.11:13166657:ATA:ATATATA,NC_000010.11:13166657:ATA:ATATATATA,NC_000010.11:13166657:ATA:ATATATATATA,NC_000010.11:13166657:ATA:ATATATATATATA,NC_000010.11:13166657:ATA:ATATATATATATATA,NC_000010.11:13166657:ATA:ATATATATATATATATA,NC_000010.11:13166657:ATA:ATATATATATATATATATA,NC_000010.11:13166657:ATA:ATATATATATATATATATATA,NC_000010.11:13166657:ATA:ATATATATATATATATATATATA,NC_000010.11:13166657:ATA:ATATATATATATATATATATATATA,NC_000010.11:13166657:ATA:ATATATATATATATATATATATATATATA
- Gene:
- MCM10 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000010.11:g.13166659_13166660del, NC_000010.11:g.13166659_13166660dup, NC_000010.11:g.13166659TA[3], NC_000010.11:g.13166659TA[4], NC_000010.11:g.13166659TA[5], NC_000010.11:g.13166659TA[6], NC_000010.11:g.13166659TA[7], NC_000010.11:g.13166659TA[8], NC_000010.11:g.13166659TA[9], NC_000010.11:g.13166659TA[10], NC_000010.11:g.13166659TA[11], NC_000010.11:g.13166659TA[12], NC_000010.11:g.13166659TA[14], NC_000010.10:g.13208659_13208660del, NC_000010.10:g.13208659_13208660dup, NC_000010.10:g.13208659TA[3], NC_000010.10:g.13208659TA[4], NC_000010.10:g.13208659TA[5], NC_000010.10:g.13208659TA[6], NC_000010.10:g.13208659TA[7], NC_000010.10:g.13208659TA[8], NC_000010.10:g.13208659TA[9], NC_000010.10:g.13208659TA[10], NC_000010.10:g.13208659TA[11], NC_000010.10:g.13208659TA[12], NC_000010.10:g.13208659TA[14]
9.
rs1491237992 has merged into rs60316855 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTATTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 10:13177518
(GRCh38)
10:13219518
(GRCh37)
- Canonical SPDI:
- NC_000010.11:13177508:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000010.11:13177508:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000010.11:13177508:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000010.11:13177508:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000010.11:13177508:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000010.11:13177508:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000010.11:13177508:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000010.11:13177508:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000010.11:13177508:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000010.11:13177508:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000010.11:13177508:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000010.11:13177508:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000010.11:13177508:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:13177508:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:13177508:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:13177508:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:13177508:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:13177508:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:13177508:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:13177508:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:13177508:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:13177508:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:13177508:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:13177508:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:13177508:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:13177508:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:13177508:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:13177508:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:13177508:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:13177508:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:13177508:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:13177508:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:13177508:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:13177508:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:13177508:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:13177508:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:13177508:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:13177508:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- MCM10 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTT=0./0
(
ALFA)
TTTTTTTTT=0.132/661
(1000Genomes)
- HGVS:
NC_000010.11:g.13177518_13177531del, NC_000010.11:g.13177520_13177531del, NC_000010.11:g.13177521_13177531del, NC_000010.11:g.13177522_13177531del, NC_000010.11:g.13177523_13177531del, NC_000010.11:g.13177524_13177531del, NC_000010.11:g.13177525_13177531del, NC_000010.11:g.13177526_13177531del, NC_000010.11:g.13177527_13177531del, NC_000010.11:g.13177528_13177531del, NC_000010.11:g.13177529_13177531del, NC_000010.11:g.13177530_13177531del, NC_000010.11:g.13177531del, NC_000010.11:g.13177531dup, NC_000010.11:g.13177509_13177531T[24]ATTTTTTTTTTT[2]T[22], NC_000010.11:g.13177530_13177531dup, NC_000010.11:g.13177529_13177531dup, NC_000010.11:g.13177528_13177531dup, NC_000010.11:g.13177527_13177531dup, NC_000010.11:g.13177526_13177531dup, NC_000010.11:g.13177525_13177531dup, NC_000010.11:g.13177524_13177531dup, NC_000010.11:g.13177523_13177531dup, NC_000010.11:g.13177522_13177531dup, NC_000010.11:g.13177521_13177531dup, NC_000010.11:g.13177520_13177531dup, NC_000010.11:g.13177519_13177531dup, NC_000010.11:g.13177518_13177531dup, NC_000010.11:g.13177517_13177531dup, NC_000010.11:g.13177515_13177531dup, NC_000010.11:g.13177512_13177531dup, NC_000010.11:g.13177511_13177531dup, NC_000010.11:g.13177510_13177531dup, NC_000010.11:g.13177509_13177531dup, NC_000010.11:g.13177531_13177532insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.11:g.13177531_13177532insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.11:g.13177531_13177532insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.11:g.13177531_13177532insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.10:g.13219518_13219531del, NC_000010.10:g.13219520_13219531del, NC_000010.10:g.13219521_13219531del, NC_000010.10:g.13219522_13219531del, NC_000010.10:g.13219523_13219531del, NC_000010.10:g.13219524_13219531del, NC_000010.10:g.13219525_13219531del, NC_000010.10:g.13219526_13219531del, NC_000010.10:g.13219527_13219531del, NC_000010.10:g.13219528_13219531del, NC_000010.10:g.13219529_13219531del, NC_000010.10:g.13219530_13219531del, NC_000010.10:g.13219531del, NC_000010.10:g.13219531dup, NC_000010.10:g.13219509_13219531T[24]ATTTTTTTTTTT[2]T[22], NC_000010.10:g.13219530_13219531dup, NC_000010.10:g.13219529_13219531dup, NC_000010.10:g.13219528_13219531dup, NC_000010.10:g.13219527_13219531dup, NC_000010.10:g.13219526_13219531dup, NC_000010.10:g.13219525_13219531dup, NC_000010.10:g.13219524_13219531dup, NC_000010.10:g.13219523_13219531dup, NC_000010.10:g.13219522_13219531dup, NC_000010.10:g.13219521_13219531dup, NC_000010.10:g.13219520_13219531dup, NC_000010.10:g.13219519_13219531dup, NC_000010.10:g.13219518_13219531dup, NC_000010.10:g.13219517_13219531dup, NC_000010.10:g.13219515_13219531dup, NC_000010.10:g.13219512_13219531dup, NC_000010.10:g.13219511_13219531dup, NC_000010.10:g.13219510_13219531dup, NC_000010.10:g.13219509_13219531dup, NC_000010.10:g.13219531_13219532insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.10:g.13219531_13219532insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.10:g.13219531_13219532insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.10:g.13219531_13219532insTTTTTTTTTTTTTTTTTTTTTTTTTTT
11.
rs1491044981 has merged into rs55683228 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 10:13208575
(GRCh38)
10:13250575
(GRCh37)
- Canonical SPDI:
- NC_000010.11:13208566:AAAAAAAAAAAAAAAA:AAAAAAAA,NC_000010.11:13208566:AAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000010.11:13208566:AAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000010.11:13208566:AAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000010.11:13208566:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000010.11:13208566:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000010.11:13208566:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000010.11:13208566:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000010.11:13208566:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000010.11:13208566:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000010.11:13208566:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000010.11:13208566:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000010.11:13208566:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000010.11:13208566:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- MCM10 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAA=0./0
(
ALFA)
-=0.102/511
(1000Genomes)
- HGVS:
NC_000010.11:g.13208575_13208582del, NC_000010.11:g.13208576_13208582del, NC_000010.11:g.13208577_13208582del, NC_000010.11:g.13208578_13208582del, NC_000010.11:g.13208579_13208582del, NC_000010.11:g.13208580_13208582del, NC_000010.11:g.13208581_13208582del, NC_000010.11:g.13208582del, NC_000010.11:g.13208582dup, NC_000010.11:g.13208581_13208582dup, NC_000010.11:g.13208580_13208582dup, NC_000010.11:g.13208579_13208582dup, NC_000010.11:g.13208578_13208582dup, NC_000010.11:g.13208575_13208582dup, NC_000010.10:g.13250575_13250582del, NC_000010.10:g.13250576_13250582del, NC_000010.10:g.13250577_13250582del, NC_000010.10:g.13250578_13250582del, NC_000010.10:g.13250579_13250582del, NC_000010.10:g.13250580_13250582del, NC_000010.10:g.13250581_13250582del, NC_000010.10:g.13250582del, NC_000010.10:g.13250582dup, NC_000010.10:g.13250581_13250582dup, NC_000010.10:g.13250580_13250582dup, NC_000010.10:g.13250579_13250582dup, NC_000010.10:g.13250578_13250582dup, NC_000010.10:g.13250575_13250582dup
12.
rs1491043075 has merged into rs71513356 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAA>-,A,AA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA
[Show Flanks]
- Chromosome:
- 10:13165890
(GRCh38)
10:13207890
(GRCh37)
- Canonical SPDI:
- NC_000010.11:13165875:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000010.11:13165875:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000010.11:13165875:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000010.11:13165875:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000010.11:13165875:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000010.11:13165875:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000010.11:13165875:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000010.11:13165875:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA
- Gene:
- MCM10 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAAA=0./0
(
ALFA)
-=0.1699/851
(1000Genomes)
- HGVS:
NC_000010.11:g.13165890_13165892del, NC_000010.11:g.13165891_13165892del, NC_000010.11:g.13165892del, NC_000010.11:g.13165892dup, NC_000010.11:g.13165891_13165892dup, NC_000010.11:g.13165890_13165892dup, NC_000010.11:g.13165889_13165892dup, NC_000010.11:g.13165888_13165892dup, NC_000010.10:g.13207890_13207892del, NC_000010.10:g.13207891_13207892del, NC_000010.10:g.13207892del, NC_000010.10:g.13207892dup, NC_000010.10:g.13207891_13207892dup, NC_000010.10:g.13207890_13207892dup, NC_000010.10:g.13207889_13207892dup, NC_000010.10:g.13207888_13207892dup
13.
rs1491025661 has merged into rs150847036 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GTGTGT>-,GTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT
[Show Flanks]
- Chromosome:
- 10:13163699
(GRCh38)
10:13205699
(GRCh37)
- Canonical SPDI:
- NC_000010.11:13163687:TGTGTGTGTGTGTGTGT:TGTGTGTGTGT,NC_000010.11:13163687:TGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGT,NC_000010.11:13163687:TGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGT,NC_000010.11:13163687:TGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGT,NC_000010.11:13163687:TGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGT
- Gene:
- MCM10 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TGTGTGTGTGTGTGT=0./0
(
ALFA)
TG=0.393/1968
(1000Genomes)
-=0.4851/2050
(Estonian)
TG=0.4907/105
(Vietnamese)
- HGVS:
14.
rs1491024277 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->GTTT
[Show Flanks]
- Chromosome:
- 10:13195581
(GRCh38)
10:13237582
(GRCh37)
- Canonical SPDI:
- NC_000010.11:13195581:GTTT:GTTTGTTT
- Gene:
- MCM10 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
GTTTGTTT=0.000169/2
(
ALFA)
GTTT=0.000205/25
(GnomAD)
- HGVS:
15.
rs1490984441 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 10:13195118
(GRCh38)
10:13237118
(GRCh37)
- Canonical SPDI:
- NC_000010.11:13195117:G:A,NC_000010.11:13195117:G:C
- Gene:
- MCM10 (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
A=0.000342/1
(KOREAN)
- HGVS:
NC_000010.11:g.13195118G>A, NC_000010.11:g.13195118G>C, NC_000010.10:g.13237118G>A, NC_000010.10:g.13237118G>C, NM_018518.5:c.1823G>A, NM_018518.5:c.1823G>C, NM_018518.4:c.1823G>A, NM_018518.4:c.1823G>C, XM_011519538.3:c.1826G>A, XM_011519538.3:c.1826G>C, XM_011519538.2:c.1826G>A, XM_011519538.2:c.1826G>C, XM_011519538.1:c.1826G>A, XM_011519538.1:c.1826G>C, NM_182751.3:c.1826G>A, NM_182751.3:c.1826G>C, NM_182751.2:c.1826G>A, NM_182751.2:c.1826G>C, XM_047425437.1:c.1823G>A, XM_047425437.1:c.1823G>C, NP_060988.3:p.Arg608Gln, NP_060988.3:p.Arg608Pro, XP_011517840.1:p.Arg609Gln, XP_011517840.1:p.Arg609Pro, NP_877428.1:p.Arg609Gln, NP_877428.1:p.Arg609Pro, XP_047281393.1:p.Arg608Gln, XP_047281393.1:p.Arg608Pro
16.
rs1490910040 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 10:13210316
(GRCh38)
10:13252317
(GRCh37)
- Canonical SPDI:
- NC_000010.11:13210316::C
- Gene:
- MCM10 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0.000084/1
(
ALFA)
C=0.000022/3
(GnomAD)
- HGVS:
17.
rs1490882635 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 10:13164321
(GRCh38)
10:13206321
(GRCh37)
- Canonical SPDI:
- NC_000010.11:13164320:G:A
- Gene:
- MCM10 (Varview)
- Functional Consequence:
- 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:
18.
rs1490863734 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 10:13178238
(GRCh38)
10:13220238
(GRCh37)
- Canonical SPDI:
- NC_000010.11:13178237:A:G
- Gene:
- MCM10 (Varview)
- Functional Consequence:
- 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:
19.
rs1490849430 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 10:13179411
(GRCh38)
10:13221411
(GRCh37)
- Canonical SPDI:
- NC_000010.11:13179410:G:A
- Gene:
- MCM10 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
20.
rs1490846483 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AA>-
[Show Flanks]
- Chromosome:
- 10:13160861
(GRCh38)
10:13202861
(GRCh37)
- Canonical SPDI:
- NC_000010.11:13160859:AAA:A
- Gene:
- MCM10 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
-=0.000021/3
(GnomAD)
-=0.00006/16
(TOPMED)
-=0.000546/1
(Korea1K)
-=0.000602/10
(TOMMO)
- HGVS: