SNP Links for Gene (Select 4199) - SNP

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Select item 14915526101.

rs1491552610 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 6:83224683 (GRCh38)
6:83934402 (GRCh37)
Canonical SPDI:: NC_000006.12:83224682:CA:
Gene:: ME1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000006.12:g.83224683_83224684del, NC_000006.11:g.83934402_83934403del

Select item 14915521022.

rs1491552102 [Homo sapiens]

Variant type:: INS
Alleles:: ->CTCTCTCTCTAC,CTCTCTCTCTCTCTCTCTCTCTCTCTCCTCTCTCTCTCTCTGTCTGTCTCTCTCTGTCTCTCTTTCTCTC [Show Flanks]
Chromosome:: 6:83357936 (GRCh38)
6:84067656 (GRCh37)
Canonical SPDI:: NC_000006.12:83357936::CTCTCTCTCTAC,NC_000006.12:83357936::CTCTCTCTCTCTCTCTCTCTCTCTCTCCTCTCTCTCTCTCTGTCTGTCTCTCTCTGTCTCTCTTTCTCTC
Gene:: ME1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: CTCTCTCTCTCTCTCTCTCTCTCTCTCCTCTCTCTCTCTCTGTCTGTCTCTCTCTGTCTCTCTTTCTCTC=0.00004/1 (GnomAD)
HGVS:: NC_000006.12:g.83357936_83357937insCTCTCTCTCTAC, NC_000006.12:g.83357936_83357937insCTCTCTCTCTCTCTCTCTCTCTCTCTCCTCTCTCTCTCTCTGTCTGTCTCTCTCTGTCTCTCTTTCTCTC, NC_000006.11:g.84067655_84067656insCTCTCTCTCTAC, NC_000006.11:g.84067655_84067656insCTCTCTCTCTCTCTCTCTCTCTCTCTCCTCTCTCTCTCTCTGTCTGTCTCTCTCTGTCTCTCTTTCTCTC

Select item 14915428123.

rs1491542812 has merged into rs70987750 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAA>-,A,AA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 6:83376818 (GRCh38)
6:84086537 (GRCh37)
Canonical SPDI:: NC_000006.12:83376804:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000006.12:83376804:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000006.12:83376804:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000006.12:83376804:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000006.12:83376804:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000006.12:83376804:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000006.12:83376804:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000006.12:83376804:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000006.12:83376804:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:83376804:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:83376804:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:83376804:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:83376804:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:83376804:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:83376804:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:83376804:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:83376804:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:83376804:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:83376804:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:83376804:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:83376804:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:83376804:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:83376804:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:83376804:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:83376804:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:83376804:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:83376804:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:83376804:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:83376804:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:83376804:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:83376804:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:83376804:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:83376804:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:83376804:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:83376804:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:83376804:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:83376804:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:83376804:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:83376804:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:83376804:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:83376804:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:83376804:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:83376804:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:83376804:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:83376804:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:83376804:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:83376804:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:83376804:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:83376804:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAA,NC_000006.12:83376804:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAA,NC_000006.12:83376804:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAA
Gene:: ME1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
A=0.175/7 (GENOME_DK)
A=0.25/2 (KOREAN)
HGVS:: NC_000006.12:g.83376818_83376820del, NC_000006.12:g.83376819_83376820del, NC_000006.12:g.83376820del, NC_000006.12:g.83376820dup, NC_000006.12:g.83376819_83376820dup, NC_000006.12:g.83376818_83376820dup, NC_000006.12:g.83376817_83376820dup, NC_000006.12:g.83376816_83376820dup, NC_000006.12:g.83376815_83376820dup, NC_000006.12:g.83376814_83376820dup, NC_000006.12:g.83376813_83376820dup, NC_000006.12:g.83376812_83376820dup, NC_000006.12:g.83376811_83376820dup, NC_000006.12:g.83376810_83376820dup, NC_000006.12:g.83376809_83376820dup, NC_000006.12:g.83376808_83376820dup, NC_000006.12:g.83376807_83376820dup, NC_000006.12:g.83376806_83376820dup, NC_000006.12:g.83376805_83376820dup, NC_000006.12:g.83376820_83376821insAAAAAAAAAAAAAAAAA, NC_000006.12:g.83376820_83376821insAAAAAAAAAAAAAAAAAA, NC_000006.12:g.83376820_83376821insAAAAAAAAAAAAAAAAAAA, NC_000006.12:g.83376820_83376821insAAAAAAAAAAAAAAAAAAAA, NC_000006.12:g.83376820_83376821insAAAAAAAAAAAAAAAAAAAAA, NC_000006.12:g.83376820_83376821insAAAAAAAAAAAAAAAAAAAAAA, NC_000006.12:g.83376820_83376821insAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.12:g.83376820_83376821insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.12:g.83376820_83376821insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.12:g.83376820_83376821insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.12:g.83376820_83376821insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.12:g.83376820_83376821insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.12:g.83376820_83376821insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.12:g.83376820_83376821insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.12:g.83376820_83376821insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.12:g.83376820_83376821insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.12:g.83376820_83376821insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.12:g.83376820_83376821insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.12:g.83376820_83376821insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.12:g.83376820_83376821insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.12:g.83376820_83376821insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.12:g.83376820_83376821insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.12:g.83376820_83376821insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.12:g.83376820_83376821insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.12:g.83376820_83376821insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.12:g.83376820_83376821insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.12:g.83376820_83376821insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.12:g.83376820_83376821insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.12:g.83376820_83376821insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.12:g.83376805_83376820A[38]TAAAAAAAAAAAAAAAAAA[1], NC_000006.12:g.83376805_83376820A[36]TAAAAAAAAAAAAAAAAAAA[1], NC_000006.12:g.83376805_83376820A[35]TAAAAAAAAAAAAAAAA[1], NC_000006.11:g.84086537_84086539del, NC_000006.11:g.84086538_84086539del, NC_000006.11:g.84086539del, NC_000006.11:g.84086539dup, NC_000006.11:g.84086538_84086539dup, NC_000006.11:g.84086537_84086539dup, NC_000006.11:g.84086536_84086539dup, NC_000006.11:g.84086535_84086539dup, NC_000006.11:g.84086534_84086539dup, NC_000006.11:g.84086533_84086539dup, NC_000006.11:g.84086532_84086539dup, NC_000006.11:g.84086531_84086539dup, NC_000006.11:g.84086530_84086539dup, NC_000006.11:g.84086529_84086539dup, NC_000006.11:g.84086528_84086539dup, NC_000006.11:g.84086527_84086539dup, NC_000006.11:g.84086526_84086539dup, NC_000006.11:g.84086525_84086539dup, NC_000006.11:g.84086524_84086539dup, NC_000006.11:g.84086539_84086540insAAAAAAAAAAAAAAAAA, NC_000006.11:g.84086539_84086540insAAAAAAAAAAAAAAAAAA, NC_000006.11:g.84086539_84086540insAAAAAAAAAAAAAAAAAAA, NC_000006.11:g.84086539_84086540insAAAAAAAAAAAAAAAAAAAA, NC_000006.11:g.84086539_84086540insAAAAAAAAAAAAAAAAAAAAA, NC_000006.11:g.84086539_84086540insAAAAAAAAAAAAAAAAAAAAAA, NC_000006.11:g.84086539_84086540insAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.11:g.84086539_84086540insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.11:g.84086539_84086540insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.11:g.84086539_84086540insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.11:g.84086539_84086540insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.11:g.84086539_84086540insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.11:g.84086539_84086540insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.11:g.84086539_84086540insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.11:g.84086539_84086540insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.11:g.84086539_84086540insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.11:g.84086539_84086540insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.11:g.84086539_84086540insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.11:g.84086539_84086540insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.11:g.84086539_84086540insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.11:g.84086539_84086540insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.11:g.84086539_84086540insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.11:g.84086539_84086540insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.11:g.84086539_84086540insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.11:g.84086539_84086540insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.11:g.84086539_84086540insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.11:g.84086539_84086540insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.11:g.84086539_84086540insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.11:g.84086539_84086540insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.11:g.84086524_84086539A[38]TAAAAAAAAAAAAAAAAAA[1], NC_000006.11:g.84086524_84086539A[36]TAAAAAAAAAAAAAAAAAAA[1], NC_000006.11:g.84086524_84086539A[35]TAAAAAAAAAAAAAAAA[1]

Select item 14915293314.

rs1491529331 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 6:83243373 (GRCh38)
6:83953093 (GRCh37)
Canonical SPDI:: NC_000006.12:83243373:T:TT
Gene:: ME1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TT=0.000197/3 (ALFA)
T=0.000086/9 (GnomAD)
HGVS:: NC_000006.12:g.83243374dup, NC_000006.11:g.83953093dup

Select item 14914930765.

rs1491493076 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 6:83325949 (GRCh38)
6:84035669 (GRCh37)
Canonical SPDI:: NC_000006.12:83325949::C
Gene:: ME1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.83325949_83325950insC, NC_000006.11:g.84035668_84035669insC

Select item 14914504136.

rs1491450413 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AAAGAAAGAAAGCAAGAAAG,AAAGAAAGCAAGAAAG,AAAGCAAGAAAG,CAAGAAAG [Show Flanks]
Chromosome:: 6:83237272 (GRCh38)
6:83946992 (GRCh37)
Canonical SPDI:: NC_000006.12:83237272:AAGAAAG:AAGAAAGAAAGAAAGAAAGCAAGAAAG,NC_000006.12:83237272:AAGAAAG:AAGAAAGAAAGAAAGCAAGAAAG,NC_000006.12:83237272:AAGAAAG:AAGAAAGAAAGCAAGAAAG,NC_000006.12:83237272:AAGAAAG:AAGAAAGCAAGAAAG
Gene:: ME1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAGAAAGAAAGCAAGAAAG=0./0 (ALFA)
HGVS:: NC_000006.12:g.83237273_83237279AAGA[4]AAGCAAGAAAG[1], NC_000006.12:g.83237273_83237279AAGA[3]AAGCAAGAAAG[1], NC_000006.12:g.83237273_83237279AAGA[2]AAGCAAGAAAG[1], NC_000006.12:g.83237279_83237280insCAAGAAAG, NC_000006.11:g.83946992_83946998AAGA[4]AAGCAAGAAAG[1], NC_000006.11:g.83946992_83946998AAGA[3]AAGCAAGAAAG[1], NC_000006.11:g.83946992_83946998AAGA[2]AAGCAAGAAAG[1], NC_000006.11:g.83946998_83946999insCAAGAAAG

Select item 14914290327.

rs1491429032 has merged into rs1167133929 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,TT,TTT,TTTTT,TTTTTTT [Show Flanks]
Chromosome:: 6:83417369 (GRCh38)
6:84127088 (GRCh37)
Canonical SPDI:: NC_000006.12:83417366:TTTTTT:TT,NC_000006.12:83417366:TTTTTT:TTTT,NC_000006.12:83417366:TTTTTT:TTTTT,NC_000006.12:83417366:TTTTTT:TTTTTTT,NC_000006.12:83417366:TTTTTT:TTTTTTTTT
Gene:: ME1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
TTT=0.000067/8 (GnomAD)
TTT=0.000106/3 (TOMMO)
T=0.000156/1 (1000Genomes)
HGVS:: NC_000006.12:g.83417369_83417372del, NC_000006.12:g.83417371_83417372del, NC_000006.12:g.83417372del, NC_000006.12:g.83417372dup, NC_000006.12:g.83417370_83417372dup, NC_000006.11:g.84127088_84127091del, NC_000006.11:g.84127090_84127091del, NC_000006.11:g.84127091del, NC_000006.11:g.84127091dup, NC_000006.11:g.84127089_84127091dup

Select item 14914284898.

rs1491428489 has merged into rs71545854 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 6:83283241 (GRCh38)
6:83992960 (GRCh37)
Canonical SPDI:: NC_000006.12:83283227:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000006.12:83283227:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000006.12:83283227:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000006.12:83283227:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000006.12:83283227:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000006.12:83283227:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000006.12:83283227:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000006.12:83283227:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000006.12:83283227:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:83283227:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:83283227:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:83283227:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:83283227:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:83283227:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:83283227:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:83283227:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:83283227:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:83283227:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:83283227:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:83283227:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:83283227:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:83283227:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:83283227:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:83283227:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:83283227:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:83283227:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:83283227:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:83283227:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:83283227:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:83283227:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:83283227:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:83283227:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:83283227:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:83283227:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:83283227:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:83283227:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:83283227:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: ME1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000006.12:g.83283241_83283248del, NC_000006.12:g.83283242_83283248del, NC_000006.12:g.83283243_83283248del, NC_000006.12:g.83283244_83283248del, NC_000006.12:g.83283245_83283248del, NC_000006.12:g.83283246_83283248del, NC_000006.12:g.83283247_83283248del, NC_000006.12:g.83283248del, NC_000006.12:g.83283248dup, NC_000006.12:g.83283247_83283248dup, NC_000006.12:g.83283246_83283248dup, NC_000006.12:g.83283245_83283248dup, NC_000006.12:g.83283244_83283248dup, NC_000006.12:g.83283243_83283248dup, NC_000006.12:g.83283242_83283248dup, NC_000006.12:g.83283241_83283248dup, NC_000006.12:g.83283240_83283248dup, NC_000006.12:g.83283239_83283248dup, NC_000006.12:g.83283238_83283248dup, NC_000006.12:g.83283237_83283248dup, NC_000006.12:g.83283236_83283248dup, NC_000006.12:g.83283235_83283248dup, NC_000006.12:g.83283234_83283248dup, NC_000006.12:g.83283233_83283248dup, NC_000006.12:g.83283232_83283248dup, NC_000006.12:g.83283231_83283248dup, NC_000006.12:g.83283230_83283248dup, NC_000006.12:g.83283229_83283248dup, NC_000006.12:g.83283228_83283248dup, NC_000006.12:g.83283248_83283249insAAAAAAAAAAAAAAAAAAAAAA, NC_000006.12:g.83283248_83283249insAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.12:g.83283248_83283249insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.12:g.83283248_83283249insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.12:g.83283248_83283249insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.12:g.83283248_83283249insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.12:g.83283248_83283249insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.12:g.83283248_83283249insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.11:g.83992960_83992967del, NC_000006.11:g.83992961_83992967del, NC_000006.11:g.83992962_83992967del, NC_000006.11:g.83992963_83992967del, NC_000006.11:g.83992964_83992967del, NC_000006.11:g.83992965_83992967del, NC_000006.11:g.83992966_83992967del, NC_000006.11:g.83992967del, NC_000006.11:g.83992967dup, NC_000006.11:g.83992966_83992967dup, NC_000006.11:g.83992965_83992967dup, NC_000006.11:g.83992964_83992967dup, NC_000006.11:g.83992963_83992967dup, NC_000006.11:g.83992962_83992967dup, NC_000006.11:g.83992961_83992967dup, NC_000006.11:g.83992960_83992967dup, NC_000006.11:g.83992959_83992967dup, NC_000006.11:g.83992958_83992967dup, NC_000006.11:g.83992957_83992967dup, NC_000006.11:g.83992956_83992967dup, NC_000006.11:g.83992955_83992967dup, NC_000006.11:g.83992954_83992967dup, NC_000006.11:g.83992953_83992967dup, NC_000006.11:g.83992952_83992967dup, NC_000006.11:g.83992951_83992967dup, NC_000006.11:g.83992950_83992967dup, NC_000006.11:g.83992949_83992967dup, NC_000006.11:g.83992948_83992967dup, NC_000006.11:g.83992947_83992967dup, NC_000006.11:g.83992967_83992968insAAAAAAAAAAAAAAAAAAAAAA, NC_000006.11:g.83992967_83992968insAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.11:g.83992967_83992968insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.11:g.83992967_83992968insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.11:g.83992967_83992968insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.11:g.83992967_83992968insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.11:g.83992967_83992968insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.11:g.83992967_83992968insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 14914200639.

rs1491420063 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 6:83411840 (GRCh38)
6:84121560 (GRCh37)
Canonical SPDI:: NC_000006.12:83411840:TTTTTT:TTTTTTT
Gene:: ME1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TTTTTTT=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.83411846dup, NC_000006.11:g.84121565dup

Select item 149140702610.

rs1491407026 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 6:83324716 (GRCh38)
6:84034435 (GRCh37)
Canonical SPDI:: NC_000006.12:83324715:CA:
Gene:: ME1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.00002/1 (GnomAD)
-=0.00117/2 (Korea1K)
-=0.01024/171 (TOMMO)
HGVS:: NC_000006.12:g.83324716_83324717del, NC_000006.11:g.84034435_84034436del

Select item 149133134911.

rs1491331349 [Homo sapiens]

Variant type:: INS
Alleles:: ->TTC [Show Flanks]
Chromosome:: 6:83408937 (GRCh38)
6:84118657 (GRCh37)
Canonical SPDI:: NC_000006.12:83408937::TTC
Gene:: ME1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TTC=0./0 (ALFA)
HGVS:: NC_000006.12:g.83408937_83408938insTTC, NC_000006.11:g.84118656_84118657insTTC

Select item 149131379112.

rs1491313791 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>- [Show Flanks]
Chromosome:: 6:83243374 (GRCh38)
6:83953093 (GRCh37)
Canonical SPDI:: NC_000006.12:83243372:ATA:A
Gene:: ME1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.000084/1 (ALFA)
-=0.000008/1 (GnomAD)
HGVS:: NC_000006.12:g.83243374_83243375del, NC_000006.11:g.83953093_83953094del

Select item 149129061413.

rs1491290614 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 6:83301313 (GRCh38)
6:84011033 (GRCh37)
Canonical SPDI:: NC_000006.12:83301313::C
Gene:: ME1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: C=0.000027/3 (GnomAD)
HGVS:: NC_000006.12:g.83301313_83301314insC, NC_000006.11:g.84011032_84011033insC

Select item 149128752914.

rs1491287529 has merged into rs199839173 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAA>-,A,AA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAACGAAGAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 6:83325961 (GRCh38)
6:84035680 (GRCh37)
Canonical SPDI:: NC_000006.12:83325948:AAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000006.12:83325948:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000006.12:83325948:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000006.12:83325948:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000006.12:83325948:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000006.12:83325948:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000006.12:83325948:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000006.12:83325948:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000006.12:83325948:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000006.12:83325948:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:83325948:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:83325948:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:83325948:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:83325948:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:83325948:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:83325948:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:83325948:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:83325948:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACGAAGAAAAAAAAAAAAAAAAAAAA
Gene:: ME1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
A=0.2684/1344 (1000Genomes)
A=0.375/3 (KOREAN)
HGVS:: NC_000006.12:g.83325961_83325963del, NC_000006.12:g.83325962_83325963del, NC_000006.12:g.83325963del, NC_000006.12:g.83325963dup, NC_000006.12:g.83325962_83325963dup, NC_000006.12:g.83325961_83325963dup, NC_000006.12:g.83325960_83325963dup, NC_000006.12:g.83325959_83325963dup, NC_000006.12:g.83325958_83325963dup, NC_000006.12:g.83325956_83325963dup, NC_000006.12:g.83325955_83325963dup, NC_000006.12:g.83325954_83325963dup, NC_000006.12:g.83325953_83325963dup, NC_000006.12:g.83325963_83325964insAAAAAAAAAAAAAAAA, NC_000006.12:g.83325963_83325964insAAAAAAAAAAAAAAAAAA, NC_000006.12:g.83325963_83325964insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.12:g.83325963_83325964insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.12:g.83325949_83325963A[34]CGAAGAAAAAAAAAAAAAAAAAAAA[1], NC_000006.11:g.84035680_84035682del, NC_000006.11:g.84035681_84035682del, NC_000006.11:g.84035682del, NC_000006.11:g.84035682dup, NC_000006.11:g.84035681_84035682dup, NC_000006.11:g.84035680_84035682dup, NC_000006.11:g.84035679_84035682dup, NC_000006.11:g.84035678_84035682dup, NC_000006.11:g.84035677_84035682dup, NC_000006.11:g.84035675_84035682dup, NC_000006.11:g.84035674_84035682dup, NC_000006.11:g.84035673_84035682dup, NC_000006.11:g.84035672_84035682dup, NC_000006.11:g.84035682_84035683insAAAAAAAAAAAAAAAA, NC_000006.11:g.84035682_84035683insAAAAAAAAAAAAAAAAAA, NC_000006.11:g.84035682_84035683insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.11:g.84035682_84035683insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.11:g.84035668_84035682A[34]CGAAGAAAAAAAAAAAAAAAAAAAA[1]

Select item 149126198215.

rs1491261982 has merged into rs1365576040 [Homo sapiens]

Variant type:: DELINS
Alleles:: CC>-,CCC,CCCC,CCCCC,CCCCCC,CCCCCCC,CCCCCCCC,CCCCCCCCC,CCCCCCCCCC,CCCCCCCCCCC,CCCCCCCCCCCCC [Show Flanks]
Chromosome:: 6:83357902 (GRCh38)
6:84067621 (GRCh37)
Canonical SPDI:: NC_000006.12:83357899:CCCC:CC,NC_000006.12:83357899:CCCC:CCCCC,NC_000006.12:83357899:CCCC:CCCCCC,NC_000006.12:83357899:CCCC:CCCCCCC,NC_000006.12:83357899:CCCC:CCCCCCCC,NC_000006.12:83357899:CCCC:CCCCCCCCC,NC_000006.12:83357899:CCCC:CCCCCCCCCC,NC_000006.12:83357899:CCCC:CCCCCCCCCCC,NC_000006.12:83357899:CCCC:CCCCCCCCCCCC,NC_000006.12:83357899:CCCC:CCCCCCCCCCCCC,NC_000006.12:83357899:CCCC:CCCCCCCCCCCCCCC
Gene:: ME1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCC=0./0 (ALFA)
HGVS:: NC_000006.12:g.83357902_83357903del, NC_000006.12:g.83357903dup, NC_000006.12:g.83357902_83357903dup, NC_000006.12:g.83357901_83357903dup, NC_000006.12:g.83357900_83357903dup, NC_000006.12:g.83357903_83357904insCCCCC, NC_000006.12:g.83357903_83357904insCCCCCC, NC_000006.12:g.83357903_83357904insCCCCCCC, NC_000006.12:g.83357903_83357904insCCCCCCCC, NC_000006.12:g.83357903_83357904insCCCCCCCCC, NC_000006.12:g.83357903_83357904insCCCCCCCCCCC, NC_000006.11:g.84067621_84067622del, NC_000006.11:g.84067622dup, NC_000006.11:g.84067621_84067622dup, NC_000006.11:g.84067620_84067622dup, NC_000006.11:g.84067619_84067622dup, NC_000006.11:g.84067622_84067623insCCCCC, NC_000006.11:g.84067622_84067623insCCCCCC, NC_000006.11:g.84067622_84067623insCCCCCCC, NC_000006.11:g.84067622_84067623insCCCCCCCC, NC_000006.11:g.84067622_84067623insCCCCCCCCC, NC_000006.11:g.84067622_84067623insCCCCCCCCCCC

Select item 149125363116.

rs1491253631 has merged into rs57450786 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTCTGTGGTAAAGCTTTTTGTTTTATTTTTTTCCTTTTTTTTTTTTTTGTTTTTTTTGTTATTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 6:83261432 (GRCh38)
6:83971151 (GRCh37)
Canonical SPDI:: NC_000006.12:83261420:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000006.12:83261420:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000006.12:83261420:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000006.12:83261420:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000006.12:83261420:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000006.12:83261420:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000006.12:83261420:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000006.12:83261420:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000006.12:83261420:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000006.12:83261420:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000006.12:83261420:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTCTGTGGTAAAGCTTTTTGTTTTATTTTTTTCCTTTTTTTTTTTTTTGTTTTTTTTGTTATTTTTTTTTTTTTTTTTTTTT,NC_000006.12:83261420:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:83261420:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:83261420:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:83261420:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:83261420:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:83261420:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:83261420:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:83261420:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:83261420:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:83261420:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: ME1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
-=0.3538/1772 (1000Genomes)
HGVS:: NC_000006.12:g.83261432_83261439del, NC_000006.12:g.83261433_83261439del, NC_000006.12:g.83261434_83261439del, NC_000006.12:g.83261435_83261439del, NC_000006.12:g.83261436_83261439del, NC_000006.12:g.83261437_83261439del, NC_000006.12:g.83261438_83261439del, NC_000006.12:g.83261439del, NC_000006.12:g.83261439dup, NC_000006.12:g.83261438_83261439dup, NC_000006.12:g.83261421_83261439T[21]CTGTGGTAAAGCTTTTTGTTTTATTTTTTTCCTTTTTTTTTTTTTTGTTTTTTTTGTTATTTTTTTTTTTTTTTTTTTTT[1], NC_000006.12:g.83261437_83261439dup, NC_000006.12:g.83261436_83261439dup, NC_000006.12:g.83261435_83261439dup, NC_000006.12:g.83261434_83261439dup, NC_000006.12:g.83261433_83261439dup, NC_000006.12:g.83261432_83261439dup, NC_000006.12:g.83261431_83261439dup, NC_000006.12:g.83261430_83261439dup, NC_000006.12:g.83261429_83261439dup, NC_000006.12:g.83261439_83261440insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.11:g.83971151_83971158del, NC_000006.11:g.83971152_83971158del, NC_000006.11:g.83971153_83971158del, NC_000006.11:g.83971154_83971158del, NC_000006.11:g.83971155_83971158del, NC_000006.11:g.83971156_83971158del, NC_000006.11:g.83971157_83971158del, NC_000006.11:g.83971158del, NC_000006.11:g.83971158dup, NC_000006.11:g.83971157_83971158dup, NC_000006.11:g.83971140_83971158T[21]CTGTGGTAAAGCTTTTTGTTTTATTTTTTTCCTTTTTTTTTTTTTTGTTTTTTTTGTTATTTTTTTTTTTTTTTTTTTTT[1], NC_000006.11:g.83971156_83971158dup, NC_000006.11:g.83971155_83971158dup, NC_000006.11:g.83971154_83971158dup, NC_000006.11:g.83971153_83971158dup, NC_000006.11:g.83971152_83971158dup, NC_000006.11:g.83971151_83971158dup, NC_000006.11:g.83971150_83971158dup, NC_000006.11:g.83971149_83971158dup, NC_000006.11:g.83971148_83971158dup, NC_000006.11:g.83971158_83971159insTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 149125260917.

rs1491252609 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 6:83349009 (GRCh38)
6:84058728 (GRCh37)
Canonical SPDI:: NC_000006.12:83349007:ACA:A
Gene:: ME1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000084/1 (ALFA)
-=0.000248/4 (TOMMO)
-=0.000397/54 (GnomAD)
-=0.001092/2 (Korea1K)
HGVS:: NC_000006.12:g.83349009_83349010del, NC_000006.11:g.84058728_84058729del

Select item 149124967718.

rs1491249677 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 6:83301339 (GRCh38)
6:84011059 (GRCh37)
Canonical SPDI:: NC_000006.12:83301339::C
Gene:: ME1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: C=0.001/73 (GnomAD)
HGVS:: NC_000006.12:g.83301339_83301340insC, NC_000006.11:g.84011058_84011059insC

Select item 149124031819.

rs1491240318 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>- [Show Flanks]
Chromosome:: 6:83408938 (GRCh38)
6:84118657 (GRCh37)
Canonical SPDI:: NC_000006.12:83408936:AAA:A
Gene:: ME1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: -=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.83408938_83408939del, NC_000006.11:g.84118657_84118658del

Select item 149122926420.

rs1491229264 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 6:83281871 (GRCh38)
6:83991590 (GRCh37)
Canonical SPDI:: NC_000006.12:83281865:AGAGAGA:AGAGA
Gene:: ME1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AGAGA=0./0 (ALFA)
-=0.000022/3 (GnomAD)
HGVS:: NC_000006.12:g.83281867GA[2], NC_000006.11:g.83991586GA[2]

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