SNP Links for Gene (Select 4174) - SNP

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Select item 14915876411.

rs1491587641 has merged into rs34323053 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTT>-,T,TT,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 22:35430514 (GRCh38)
22:35826507 (GRCh37)
Canonical SPDI:: NC_000022.11:35430502:TTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000022.11:35430502:TTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000022.11:35430502:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000022.11:35430502:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000022.11:35430502:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000022.11:35430502:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000022.11:35430502:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000022.11:35430502:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000022.11:35430502:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000022.11:35430502:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000022.11:35430502:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: MCM5 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
-=0.4071/2039 (1000Genomes)
HGVS:: NC_000022.11:g.35430514_35430518del, NC_000022.11:g.35430515_35430518del, NC_000022.11:g.35430516_35430518del, NC_000022.11:g.35430517_35430518del, NC_000022.11:g.35430518del, NC_000022.11:g.35430518dup, NC_000022.11:g.35430517_35430518dup, NC_000022.11:g.35430516_35430518dup, NC_000022.11:g.35430515_35430518dup, NC_000022.11:g.35430514_35430518dup, NC_000022.11:g.35430510_35430518dup, NC_000022.10:g.35826507_35826511del, NC_000022.10:g.35826508_35826511del, NC_000022.10:g.35826509_35826511del, NC_000022.10:g.35826510_35826511del, NC_000022.10:g.35826511del, NC_000022.10:g.35826511dup, NC_000022.10:g.35826510_35826511dup, NC_000022.10:g.35826509_35826511dup, NC_000022.10:g.35826508_35826511dup, NC_000022.10:g.35826507_35826511dup, NC_000022.10:g.35826503_35826511dup

Select item 14915490802.

rs1491549080 has merged into rs133437 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTT>-,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT [Show Flanks]
Chromosome:: 22:35428030 (GRCh38)
22:35824023 (GRCh37)
Canonical SPDI:: NC_000022.11:35428021:TTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000022.11:35428021:TTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000022.11:35428021:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000022.11:35428021:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000022.11:35428021:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000022.11:35428021:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000022.11:35428021:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000022.11:35428021:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000022.11:35428021:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000022.11:35428021:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000022.11:35428021:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT
Gene:: MCM5 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
-=0.000026/7 (TOPMED)
-=0.075/3 (GENOME_DK)
HGVS:: NC_000022.11:g.35428030_35428038del, NC_000022.11:g.35428033_35428038del, NC_000022.11:g.35428034_35428038del, NC_000022.11:g.35428035_35428038del, NC_000022.11:g.35428036_35428038del, NC_000022.11:g.35428037_35428038del, NC_000022.11:g.35428038del, NC_000022.11:g.35428038dup, NC_000022.11:g.35428037_35428038dup, NC_000022.11:g.35428036_35428038dup, NC_000022.11:g.35428035_35428038dup, NC_000022.10:g.35824023_35824031del, NC_000022.10:g.35824026_35824031del, NC_000022.10:g.35824027_35824031del, NC_000022.10:g.35824028_35824031del, NC_000022.10:g.35824029_35824031del, NC_000022.10:g.35824030_35824031del, NC_000022.10:g.35824031del, NC_000022.10:g.35824031dup, NC_000022.10:g.35824030_35824031dup, NC_000022.10:g.35824029_35824031dup, NC_000022.10:g.35824028_35824031dup

Select item 14915304783.

rs1491530478 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>-,GG [Show Flanks]
Chromosome:: 22:35446837 (GRCh38)
22:35842830 (GRCh37)
Canonical SPDI:: NC_000022.11:35446836:GGGGGGG:GGGGGG,NC_000022.11:35446836:GGGGGGG:GGGGGGGG
Gene:: MCM5 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: GGGGGGGG=0./0 (ALFA)
-=0.000019/5 (TOPMED)
HGVS:: NC_000022.11:g.35446843del, NC_000022.11:g.35446843dup, NC_000022.10:g.35842836del, NC_000022.10:g.35842836dup

Select item 14914958734.

rs1491495873 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCAT>-,CCATCCAT [Show Flanks]
Chromosome:: 22:35438947 (GRCh38)
22:35834940 (GRCh37)
Canonical SPDI:: NC_000022.11:35438939:CATCCATCCAT:CATCCAT,NC_000022.11:35438939:CATCCATCCAT:CATCCATCCATCCAT
Gene:: MCM5 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CATCCATCCATCCAT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
CATC=0.000037/3 (GnomAD)
HGVS:: NC_000022.11:g.35438943CCAT[1], NC_000022.11:g.35438943CCAT[3], NC_000022.10:g.35834936CCAT[1], NC_000022.10:g.35834936CCAT[3]

Select item 14914378245.

rs1491437824 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 22:35427496 (GRCh38)
22:35823489 (GRCh37)
Canonical SPDI:: NC_000022.11:35427495:AT:
Gene:: MCM5 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000022/3 (GnomAD)
-=0.000034/9 (TOPMED)
-=0.000035/1 (TOMMO)
HGVS:: NC_000022.11:g.35427496_35427497del, NC_000022.10:g.35823489_35823490del

Select item 14914238336.

rs1491423833 has merged into rs1156363999 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTTTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 22:35455413 (GRCh38)
22:35851406 (GRCh37)
Canonical SPDI:: NC_000022.11:35455405:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTT,NC_000022.11:35455405:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000022.11:35455405:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000022.11:35455405:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000022.11:35455405:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000022.11:35455405:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000022.11:35455405:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000022.11:35455405:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000022.11:35455405:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000022.11:35455405:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000022.11:35455405:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000022.11:35455405:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000022.11:35455405:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000022.11:35455405:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000022.11:35455405:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:35455405:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:35455405:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:35455405:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:35455405:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:35455405:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:35455405:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:35455405:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:35455405:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:35455405:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:35455405:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:35455405:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:35455405:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:35455405:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:35455405:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:35455405:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:35455405:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: MCM5 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTT=0./0 (ALFA)
TTTTTTT=0.0064/6 (Korea1K)
HGVS:: NC_000022.11:g.35455413_35455433del, NC_000022.11:g.35455415_35455433del, NC_000022.11:g.35455416_35455433del, NC_000022.11:g.35455417_35455433del, NC_000022.11:g.35455418_35455433del, NC_000022.11:g.35455419_35455433del, NC_000022.11:g.35455420_35455433del, NC_000022.11:g.35455421_35455433del, NC_000022.11:g.35455422_35455433del, NC_000022.11:g.35455423_35455433del, NC_000022.11:g.35455424_35455433del, NC_000022.11:g.35455425_35455433del, NC_000022.11:g.35455426_35455433del, NC_000022.11:g.35455427_35455433del, NC_000022.11:g.35455428_35455433del, NC_000022.11:g.35455429_35455433del, NC_000022.11:g.35455430_35455433del, NC_000022.11:g.35455431_35455433del, NC_000022.11:g.35455432_35455433del, NC_000022.11:g.35455433del, NC_000022.11:g.35455433dup, NC_000022.11:g.35455432_35455433dup, NC_000022.11:g.35455431_35455433dup, NC_000022.11:g.35455430_35455433dup, NC_000022.11:g.35455429_35455433dup, NC_000022.11:g.35455428_35455433dup, NC_000022.11:g.35455427_35455433dup, NC_000022.11:g.35455426_35455433dup, NC_000022.11:g.35455425_35455433dup, NC_000022.11:g.35455424_35455433dup, NC_000022.11:g.35455423_35455433dup, NC_000022.10:g.35851406_35851426del, NC_000022.10:g.35851408_35851426del, NC_000022.10:g.35851409_35851426del, NC_000022.10:g.35851410_35851426del, NC_000022.10:g.35851411_35851426del, NC_000022.10:g.35851412_35851426del, NC_000022.10:g.35851413_35851426del, NC_000022.10:g.35851414_35851426del, NC_000022.10:g.35851415_35851426del, NC_000022.10:g.35851416_35851426del, NC_000022.10:g.35851417_35851426del, NC_000022.10:g.35851418_35851426del, NC_000022.10:g.35851419_35851426del, NC_000022.10:g.35851420_35851426del, NC_000022.10:g.35851421_35851426del, NC_000022.10:g.35851422_35851426del, NC_000022.10:g.35851423_35851426del, NC_000022.10:g.35851424_35851426del, NC_000022.10:g.35851425_35851426del, NC_000022.10:g.35851426del, NC_000022.10:g.35851426dup, NC_000022.10:g.35851425_35851426dup, NC_000022.10:g.35851424_35851426dup, NC_000022.10:g.35851423_35851426dup, NC_000022.10:g.35851422_35851426dup, NC_000022.10:g.35851421_35851426dup, NC_000022.10:g.35851420_35851426dup, NC_000022.10:g.35851419_35851426dup, NC_000022.10:g.35851418_35851426dup, NC_000022.10:g.35851417_35851426dup, NC_000022.10:g.35851416_35851426dup

Select item 14914088987.

rs1491408898 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 22:35435197 (GRCh38)
22:35831190 (GRCh37)
Canonical SPDI:: NC_000022.11:35435190:GAGAGAGA:GAGAGA
Gene:: MCM5 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GAGAGA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000022.11:g.35435191GA[3], NC_000022.10:g.35831184GA[3]

Select item 14914042218.

rs1491404221 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 22:35421127 (GRCh38)
22:35817120 (GRCh37)
Canonical SPDI:: NC_000022.11:35421126:CA:
Gene:: MCM5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.01846/219 (ALFA)
-=0.002/95 (GnomAD)
-=0.00201/56 (TOMMO)
HGVS:: NC_000022.11:g.35421127_35421128del, NC_000022.10:g.35817120_35817121del

Select item 14914033339.

rs1491403333 [Homo sapiens]

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

Select item 149137425210.

rs1491374252 has merged into rs133430 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 22:35421138 (GRCh38)
22:35817131 (GRCh37)
Canonical SPDI:: NC_000022.11:35421127:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000022.11:35421127:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000022.11:35421127:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000022.11:35421127:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000022.11:35421127:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000022.11:35421127:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000022.11:35421127:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000022.11:35421127:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000022.11:35421127:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000022.11:35421127:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000022.11:35421127:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:35421127:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:35421127:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:35421127:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:35421127:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:35421127:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:35421127:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: MCM5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.498602/2497 (1000Genomes)
HGVS:: NC_000022.11:g.35421138_35421151del, NC_000022.11:g.35421140_35421151del, NC_000022.11:g.35421141_35421151del, NC_000022.11:g.35421142_35421151del, NC_000022.11:g.35421143_35421151del, NC_000022.11:g.35421144_35421151del, NC_000022.11:g.35421145_35421151del, NC_000022.11:g.35421147_35421151del, NC_000022.11:g.35421148_35421151del, NC_000022.11:g.35421149_35421151del, NC_000022.11:g.35421150_35421151del, NC_000022.11:g.35421151del, NC_000022.11:g.35421151dup, NC_000022.11:g.35421150_35421151dup, NC_000022.11:g.35421149_35421151dup, NC_000022.11:g.35421148_35421151dup, NC_000022.11:g.35421139_35421151dup, NC_000022.10:g.35817131_35817144del, NC_000022.10:g.35817133_35817144del, NC_000022.10:g.35817134_35817144del, NC_000022.10:g.35817135_35817144del, NC_000022.10:g.35817136_35817144del, NC_000022.10:g.35817137_35817144del, NC_000022.10:g.35817138_35817144del, NC_000022.10:g.35817140_35817144del, NC_000022.10:g.35817141_35817144del, NC_000022.10:g.35817142_35817144del, NC_000022.10:g.35817143_35817144del, NC_000022.10:g.35817144del, NC_000022.10:g.35817144dup, NC_000022.10:g.35817143_35817144dup, NC_000022.10:g.35817142_35817144dup, NC_000022.10:g.35817141_35817144dup, NC_000022.10:g.35817132_35817144dup

Select item 149130309911.

rs1491303099 [Homo sapiens]

Variant type:: INS
Alleles:: ->GAGA,TCAGG,TCAGGCTGCCCTGATTGGGACCAAGTTCTCTTTGC,TCAGGCTGCCCTGATTGGGACCAAGTTCTCTTTGCCCAGGC [Show Flanks]
Chromosome:: 22:35416510 (GRCh38)
22:35812504 (GRCh37)
Canonical SPDI:: NC_000022.11:35416510::GAGA,NC_000022.11:35416510::TCAGG,NC_000022.11:35416510::TCAGGCTGCCCTGATTGGGACCAAGTTCTCTTTGC,NC_000022.11:35416510::TCAGGCTGCCCTGATTGGGACCAAGTTCTCTTTGCCCAGGC
Gene:: MCM5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GAGA=0./0 (ALFA)
HGVS:: NC_000022.11:g.35416510_35416511insGAGA, NC_000022.11:g.35416510_35416511insTCAGG, NC_000022.11:g.35416510_35416511insTCAGGCTGCCCTGATTGGGACCAAGTTCTCTTTGC, NC_000022.11:g.35416510_35416511insTCAGGCTGCCCTGATTGGGACCAAGTTCTCTTTGCCCAGGC, NC_000022.10:g.35812503_35812504insGAGA, NC_000022.10:g.35812503_35812504insTCAGG, NC_000022.10:g.35812503_35812504insTCAGGCTGCCCTGATTGGGACCAAGTTCTCTTTGC, NC_000022.10:g.35812503_35812504insTCAGGCTGCCCTGATTGGGACCAAGTTCTCTTTGCCCAGGC

Select item 149126540812.

rs1491265408 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>-,CTCT [Show Flanks]
Chromosome:: 22:35416511 (GRCh38)
22:35812504 (GRCh37)
Canonical SPDI:: NC_000022.11:35416509:TCT:T,NC_000022.11:35416509:TCT:TCTCT
Gene:: MCM5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCTCT=0./0 (ALFA)
TC=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.35416511_35416512del, NC_000022.11:g.35416511_35416512dup, NC_000022.10:g.35812504_35812505del, NC_000022.10:g.35812504_35812505dup

Select item 149119944713.

rs1491199447 has merged into rs35626347 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTT>-,T,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 22:35405033 (GRCh38)
22:35801026 (GRCh37)
Canonical SPDI:: NC_000022.11:35405020:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000022.11:35405020:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000022.11:35405020:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000022.11:35405020:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000022.11:35405020:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000022.11:35405020:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000022.11:35405020:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000022.11:35405020:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:35405020:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:35405020:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:35405020:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:35405020:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:35405020:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:35405020:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: MCM5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
-=0.2999/1156 (ALSPAC)
-=0.4718/2363 (1000Genomes)
HGVS:: NC_000022.11:g.35405033_35405041del, NC_000022.11:g.35405034_35405041del, NC_000022.11:g.35405037_35405041del, NC_000022.11:g.35405038_35405041del, NC_000022.11:g.35405039_35405041del, NC_000022.11:g.35405040_35405041del, NC_000022.11:g.35405041del, NC_000022.11:g.35405041dup, NC_000022.11:g.35405040_35405041dup, NC_000022.11:g.35405039_35405041dup, NC_000022.11:g.35405038_35405041dup, NC_000022.11:g.35405037_35405041dup, NC_000022.11:g.35405036_35405041dup, NC_000022.11:g.35405041_35405042insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000022.10:g.35801026_35801034del, NC_000022.10:g.35801027_35801034del, NC_000022.10:g.35801030_35801034del, NC_000022.10:g.35801031_35801034del, NC_000022.10:g.35801032_35801034del, NC_000022.10:g.35801033_35801034del, NC_000022.10:g.35801034del, NC_000022.10:g.35801034dup, NC_000022.10:g.35801033_35801034dup, NC_000022.10:g.35801032_35801034dup, NC_000022.10:g.35801031_35801034dup, NC_000022.10:g.35801030_35801034dup, NC_000022.10:g.35801029_35801034dup, NC_000022.10:g.35801034_35801035insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 149119385614.

rs1491193856 has merged into rs764636982 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAA>-,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 22:35436173 (GRCh38)
22:35832166 (GRCh37)
Canonical SPDI:: NC_000022.11:35436164:AAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000022.11:35436164:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000022.11:35436164:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000022.11:35436164:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000022.11:35436164:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000022.11:35436164:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000022.11:35436164:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000022.11:35436164:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000022.11:35436164:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000022.11:35436164:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000022.11:35436164:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000022.11:35436164:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:35436164:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:35436164:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:35436164:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:35436164:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:35436164:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:35436164:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:35436164:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:35436164:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:35436164:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: MCM5 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAA=0./0 (ALFA)
HGVS:: NC_000022.11:g.35436173_35436183del, NC_000022.11:g.35436176_35436183del, NC_000022.11:g.35436177_35436183del, NC_000022.11:g.35436178_35436183del, NC_000022.11:g.35436179_35436183del, NC_000022.11:g.35436180_35436183del, NC_000022.11:g.35436181_35436183del, NC_000022.11:g.35436182_35436183del, NC_000022.11:g.35436183del, NC_000022.11:g.35436183dup, NC_000022.11:g.35436182_35436183dup, NC_000022.11:g.35436181_35436183dup, NC_000022.11:g.35436180_35436183dup, NC_000022.11:g.35436179_35436183dup, NC_000022.11:g.35436177_35436183dup, NC_000022.11:g.35436176_35436183dup, NC_000022.11:g.35436175_35436183dup, NC_000022.11:g.35436174_35436183dup, NC_000022.11:g.35436173_35436183dup, NC_000022.11:g.35436170_35436183dup, NC_000022.11:g.35436167_35436183dup, NC_000022.10:g.35832166_35832176del, NC_000022.10:g.35832169_35832176del, NC_000022.10:g.35832170_35832176del, NC_000022.10:g.35832171_35832176del, NC_000022.10:g.35832172_35832176del, NC_000022.10:g.35832173_35832176del, NC_000022.10:g.35832174_35832176del, NC_000022.10:g.35832175_35832176del, NC_000022.10:g.35832176del, NC_000022.10:g.35832176dup, NC_000022.10:g.35832175_35832176dup, NC_000022.10:g.35832174_35832176dup, NC_000022.10:g.35832173_35832176dup, NC_000022.10:g.35832172_35832176dup, NC_000022.10:g.35832170_35832176dup, NC_000022.10:g.35832169_35832176dup, NC_000022.10:g.35832168_35832176dup, NC_000022.10:g.35832167_35832176dup, NC_000022.10:g.35832166_35832176dup, NC_000022.10:g.35832163_35832176dup, NC_000022.10:g.35832160_35832176dup

Select item 149118293815.

rs1491182938 [Homo sapiens]

Variant type:: INS
Alleles:: ->T,TAT [Show Flanks]
Chromosome:: 22:35418670 (GRCh38)
22:35814664 (GRCh37)
Canonical SPDI:: NC_000022.11:35418670::T,NC_000022.11:35418670::TAT
Gene:: MCM5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.002663/37 (ALFA)
T=0.001667/1 (NorthernSweden)
T=0.007642/14 (Korea1K)
T=0.008104/136 (TOMMO)
T=0.025336/3427 (GnomAD)
HGVS:: NC_000022.11:g.35418670_35418671insT, NC_000022.11:g.35418670_35418671insTAT, NC_000022.10:g.35814663_35814664insT, NC_000022.10:g.35814663_35814664insTAT

Select item 149112301116.

rs1491123011 [Homo sapiens]

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

Select item 149101896017.

rs1491018960 has merged into rs35549972 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 22:35428980 (GRCh38)
22:35824973 (GRCh37)
Canonical SPDI:: NC_000022.11:35428970:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000022.11:35428970:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000022.11:35428970:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000022.11:35428970:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000022.11:35428970:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000022.11:35428970:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000022.11:35428970:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000022.11:35428970:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000022.11:35428970:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000022.11:35428970:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000022.11:35428970:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000022.11:35428970:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000022.11:35428970:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:35428970:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:35428970:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:35428970:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:35428970:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:35428970:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:35428970:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:35428970:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:35428970:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:35428970:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:35428970:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:35428970:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:35428970:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:35428970:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:35428970:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:35428970:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:35428970:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:35428970:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:35428970:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:35428970:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:35428970:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: MCM5 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0./0 (ALFA)
-=0.01401/54 (ALSPAC)
-=0.01807/67 (TWINSUK)
HGVS:: NC_000022.11:g.35428980_35428997del, NC_000022.11:g.35428982_35428997del, NC_000022.11:g.35428983_35428997del, NC_000022.11:g.35428984_35428997del, NC_000022.11:g.35428985_35428997del, NC_000022.11:g.35428986_35428997del, NC_000022.11:g.35428987_35428997del, NC_000022.11:g.35428988_35428997del, NC_000022.11:g.35428989_35428997del, NC_000022.11:g.35428990_35428997del, NC_000022.11:g.35428991_35428997del, NC_000022.11:g.35428992_35428997del, NC_000022.11:g.35428993_35428997del, NC_000022.11:g.35428994_35428997del, NC_000022.11:g.35428995_35428997del, NC_000022.11:g.35428996_35428997del, NC_000022.11:g.35428997del, NC_000022.11:g.35428997dup, NC_000022.11:g.35428996_35428997dup, NC_000022.11:g.35428995_35428997dup, NC_000022.11:g.35428994_35428997dup, NC_000022.11:g.35428993_35428997dup, NC_000022.11:g.35428992_35428997dup, NC_000022.11:g.35428991_35428997dup, NC_000022.11:g.35428990_35428997dup, NC_000022.11:g.35428989_35428997dup, NC_000022.11:g.35428988_35428997dup, NC_000022.11:g.35428986_35428997dup, NC_000022.11:g.35428985_35428997dup, NC_000022.11:g.35428980_35428997dup, NC_000022.11:g.35428977_35428997dup, NC_000022.11:g.35428976_35428997dup, NC_000022.11:g.35428975_35428997dup, NC_000022.10:g.35824973_35824990del, NC_000022.10:g.35824975_35824990del, NC_000022.10:g.35824976_35824990del, NC_000022.10:g.35824977_35824990del, NC_000022.10:g.35824978_35824990del, NC_000022.10:g.35824979_35824990del, NC_000022.10:g.35824980_35824990del, NC_000022.10:g.35824981_35824990del, NC_000022.10:g.35824982_35824990del, NC_000022.10:g.35824983_35824990del, NC_000022.10:g.35824984_35824990del, NC_000022.10:g.35824985_35824990del, NC_000022.10:g.35824986_35824990del, NC_000022.10:g.35824987_35824990del, NC_000022.10:g.35824988_35824990del, NC_000022.10:g.35824989_35824990del, NC_000022.10:g.35824990del, NC_000022.10:g.35824990dup, NC_000022.10:g.35824989_35824990dup, NC_000022.10:g.35824988_35824990dup, NC_000022.10:g.35824987_35824990dup, NC_000022.10:g.35824986_35824990dup, NC_000022.10:g.35824985_35824990dup, NC_000022.10:g.35824984_35824990dup, NC_000022.10:g.35824983_35824990dup, NC_000022.10:g.35824982_35824990dup, NC_000022.10:g.35824981_35824990dup, NC_000022.10:g.35824979_35824990dup, NC_000022.10:g.35824978_35824990dup, NC_000022.10:g.35824973_35824990dup, NC_000022.10:g.35824970_35824990dup, NC_000022.10:g.35824969_35824990dup, NC_000022.10:g.35824968_35824990dup

Select item 149097224918.

rs1490972249 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 22:35443838 (GRCh38)
22:35839831 (GRCh37)
Canonical SPDI:: NC_000022.11:35443837:A:G
Gene:: MCM5 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000023/6 (TOPMED)
HGVS:: NC_000022.11:g.35443838A>G, NC_000022.10:g.35839831A>G

Select item 149095570219.

rs1490955702 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAG>- [Show Flanks]
Chromosome:: 22:35412641 (GRCh38)
22:35808634 (GRCh37)
Canonical SPDI:: NC_000022.11:35412636:GAAGAAG:GAAG
Gene:: MCM5 (Varview)
Functional Consequence:: inframe_deletion,coding_sequence_variant
HGVS:: NC_000022.11:g.35412638AAG[1], NC_000022.10:g.35808631AAG[1], XM_006724242.5:c.1048AAG[1], XM_006724242.4:c.1048AAG[1], XM_006724242.3:c.1048AAG[1], XM_006724242.2:c.1048AAG[1], XM_006724242.1:c.1048AAG[1], NM_006739.4:c.1048AAG[1], NM_006739.3:c.1048AAG[1], XM_047441366.1:c.1048AAG[1], XP_006724305.1:p.Lys351del, NP_006730.2:p.Lys351del, XP_047297322.1:p.Lys351del

Select item 149086886220.

rs1490868862 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:35438932 (GRCh38)
22:35834925 (GRCh37)
Canonical SPDI:: NC_000022.11:35438931:C:T
Gene:: MCM5 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000022.11:g.35438932C>T, NC_000022.10:g.35834925C>T

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