SNP Links for Gene (Select 4204) - SNP

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Select item 14915585491.

rs1491558549 has merged into rs1170338482 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTT>-,TT,TTT,TTTT,TTTTTT,TTTTTTT [Show Flanks]
Chromosome:: X:154035613 (GRCh38)
X:153301064 (GRCh37)
Canonical SPDI:: NC_000023.11:154035604:TTTTTTTTTTTTT:TTTTTTTT,NC_000023.11:154035604:TTTTTTTTTTTTT:TTTTTTTTTT,NC_000023.11:154035604:TTTTTTTTTTTTT:TTTTTTTTTTT,NC_000023.11:154035604:TTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000023.11:154035604:TTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000023.11:154035604:TTTTTTTTTTTTT:TTTTTTTTTTTTTTT
Gene:: MECP2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000023.11:g.154035613_154035617del, NC_000023.11:g.154035615_154035617del, NC_000023.11:g.154035616_154035617del, NC_000023.11:g.154035617del, NC_000023.11:g.154035617dup, NC_000023.11:g.154035616_154035617dup, NW_003871103.3:g.1469592_1469596del, NW_003871103.3:g.1469594_1469596del, NW_003871103.3:g.1469595_1469596del, NW_003871103.3:g.1469596del, NW_003871103.3:g.1469596dup, NW_003871103.3:g.1469595_1469596dup, NG_007107.3:g.106495_106499del, NG_007107.3:g.106497_106499del, NG_007107.3:g.106498_106499del, NG_007107.3:g.106499del, NG_007107.3:g.106499dup, NG_007107.3:g.106498_106499dup, NC_000023.10:g.153301064_153301068del, NC_000023.10:g.153301066_153301068del, NC_000023.10:g.153301067_153301068del, NC_000023.10:g.153301068del, NC_000023.10:g.153301068dup, NC_000023.10:g.153301067_153301068dup, XM_047442121.1:c.-1939_-1935del, XM_047442121.1:c.-1937_-1935del, XM_047442121.1:c.-1936_-1935del, XM_047442121.1:c.-1935del, XM_047442121.1:c.-1935dup, XM_047442121.1:c.-1936_-1935dup

Select item 14915573082.

rs1491557308 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: X:154074017 (GRCh38)
X:153339468 (GRCh37)
Canonical SPDI:: NC_000023.11:154074016:TA:
Gene:: MECP2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.154074017_154074018del, NW_003871103.3:g.1507996_1507997del, NG_007107.3:g.68086_68087del, NC_000023.10:g.153339468_153339469del

Select item 14914381513.

rs1491438151 has merged into rs201131523 [Homo sapiens]

Variant type:: DELINS
Alleles:: TATATATATATATATATATATATATATATATA>-,TA,TATA,TATATA,TATATATA,TATATATATA,TATATATATATA,TATATATATATATA,TATATATATATATATA,TATATATATATATATATA,TATATATATATATATATATA,TATATATATATATATATATATA,TATATATATATATATATATATATA,TATATATATATATATATATATATATA,TATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATATATATATATA [Show Flanks]
Chromosome:: X:154037155 (GRCh38)
X:153302606 (GRCh37)
Canonical SPDI:: NC_000023.11:154037143:ATATATATATATATATATATATATATATATATATATATATATA:ATATATATATA,NC_000023.11:154037143:ATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATA,NC_000023.11:154037143:ATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATA,NC_000023.11:154037143:ATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATA,NC_000023.11:154037143:ATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATA,NC_000023.11:154037143:ATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATA,NC_000023.11:154037143:ATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATA,NC_000023.11:154037143:ATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATA,NC_000023.11:154037143:ATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATA,NC_000023.11:154037143:ATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATA,NC_000023.11:154037143:ATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATA,NC_000023.11:154037143:ATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATA,NC_000023.11:154037143:ATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATA,NC_000023.11:154037143:ATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATA,NC_000023.11:154037143:ATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATA,NC_000023.11:154037143:ATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATA,NC_000023.11:154037143:ATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATA,NC_000023.11:154037143:ATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATATA,NC_000023.11:154037143:ATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000023.11:154037143:ATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000023.11:154037143:ATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000023.11:154037143:ATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000023.11:154037143:ATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000023.11:154037143:ATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000023.11:154037143:ATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA
Gene:: MECP2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATATATATATA=0./0 (ALFA)
ATATATATATATATATATAT=0./0 (GENOME_DK)
HGVS:: NC_000023.11:g.154037145TA[5], NC_000023.11:g.154037145TA[6], NC_000023.11:g.154037145TA[7], NC_000023.11:g.154037145TA[8], NC_000023.11:g.154037145TA[9], NC_000023.11:g.154037145TA[10], NC_000023.11:g.154037145TA[11], NC_000023.11:g.154037145TA[12], NC_000023.11:g.154037145TA[13], NC_000023.11:g.154037145TA[14], NC_000023.11:g.154037145TA[15], NC_000023.11:g.154037145TA[16], NC_000023.11:g.154037145TA[17], NC_000023.11:g.154037145TA[18], NC_000023.11:g.154037145TA[19], NC_000023.11:g.154037145TA[20], NC_000023.11:g.154037145TA[22], NC_000023.11:g.154037145TA[23], NC_000023.11:g.154037145TA[24], NC_000023.11:g.154037145TA[25], NC_000023.11:g.154037145TA[26], NC_000023.11:g.154037145TA[27], NC_000023.11:g.154037145TA[28], NC_000023.11:g.154037145TA[29], NC_000023.11:g.154037145TA[32], NW_003871103.3:g.1471124TA[5], NW_003871103.3:g.1471124TA[6], NW_003871103.3:g.1471124TA[7], NW_003871103.3:g.1471124TA[8], NW_003871103.3:g.1471124TA[9], NW_003871103.3:g.1471124TA[10], NW_003871103.3:g.1471124TA[11], NW_003871103.3:g.1471124TA[12], NW_003871103.3:g.1471124TA[13], NW_003871103.3:g.1471124TA[14], NW_003871103.3:g.1471124TA[15], NW_003871103.3:g.1471124TA[16], NW_003871103.3:g.1471124TA[17], NW_003871103.3:g.1471124TA[18], NW_003871103.3:g.1471124TA[19], NW_003871103.3:g.1471124TA[20], NW_003871103.3:g.1471124TA[22], NW_003871103.3:g.1471124TA[23], NW_003871103.3:g.1471124TA[24], NW_003871103.3:g.1471124TA[25], NW_003871103.3:g.1471124TA[26], NW_003871103.3:g.1471124TA[27], NW_003871103.3:g.1471124TA[28], NW_003871103.3:g.1471124TA[29], NW_003871103.3:g.1471124TA[32], NG_007107.3:g.104919AT[5], NG_007107.3:g.104919AT[6], NG_007107.3:g.104919AT[7], NG_007107.3:g.104919AT[8], NG_007107.3:g.104919AT[9], NG_007107.3:g.104919AT[10], NG_007107.3:g.104919AT[11], NG_007107.3:g.104919AT[12], NG_007107.3:g.104919AT[13], NG_007107.3:g.104919AT[14], NG_007107.3:g.104919AT[15], NG_007107.3:g.104919AT[16], NG_007107.3:g.104919AT[17], NG_007107.3:g.104919AT[18], NG_007107.3:g.104919AT[19], NG_007107.3:g.104919AT[20], NG_007107.3:g.104919AT[22], NG_007107.3:g.104919AT[23], NG_007107.3:g.104919AT[24], NG_007107.3:g.104919AT[25], NG_007107.3:g.104919AT[26], NG_007107.3:g.104919AT[27], NG_007107.3:g.104919AT[28], NG_007107.3:g.104919AT[29], NG_007107.3:g.104919AT[32], NC_000023.10:g.153302596TA[5], NC_000023.10:g.153302596TA[6], NC_000023.10:g.153302596TA[7], NC_000023.10:g.153302596TA[8], NC_000023.10:g.153302596TA[9], NC_000023.10:g.153302596TA[10], NC_000023.10:g.153302596TA[11], NC_000023.10:g.153302596TA[12], NC_000023.10:g.153302596TA[13], NC_000023.10:g.153302596TA[14], NC_000023.10:g.153302596TA[15], NC_000023.10:g.153302596TA[16], NC_000023.10:g.153302596TA[17], NC_000023.10:g.153302596TA[18], NC_000023.10:g.153302596TA[19], NC_000023.10:g.153302596TA[20], NC_000023.10:g.153302596TA[22], NC_000023.10:g.153302596TA[23], NC_000023.10:g.153302596TA[24], NC_000023.10:g.153302596TA[25], NC_000023.10:g.153302596TA[26], NC_000023.10:g.153302596TA[27], NC_000023.10:g.153302596TA[28], NC_000023.10:g.153302596TA[29], NC_000023.10:g.153302596TA[32]

Select item 14914187164.

rs1491418716 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GT [Show Flanks]
Chromosome:: X:154037144 (GRCh38)
X:153302596 (GRCh37)
Canonical SPDI:: NC_000023.11:154037144:T:TGT
Gene:: MECP2 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TGT=0./0 (ALFA)
HGVS:: NC_000023.11:g.154037145_154037146insGT, NW_003871103.3:g.1471124_1471125insGT, NG_007107.3:g.104959_104960insCA, NC_000023.10:g.153302596_153302597insGT

Select item 14913760745.

rs1491376074 has merged into rs11348580 [Homo sapiens]

Variant type:: DELINS
Alleles:: GG>-,G,GGG [Show Flanks]
Chromosome:: X:154045956 (GRCh38)
X:153311407 (GRCh37)
Canonical SPDI:: NC_000023.11:154045948:GGGGGGGGG:GGGGGGG,NC_000023.11:154045948:GGGGGGGGG:GGGGGGGG,NC_000023.11:154045948:GGGGGGGGG:GGGGGGGGGG
Gene:: MECP2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGGGG=0./0 (ALFA)
-=0.00011/9 (GnomAD)
G=0.05/2 (GENOME_DK)
G=0.11907/344 (ALSPAC)
G=0.12621/468 (TWINSUK)
G=0.43099/1627 (1000Genomes)
HGVS:: NC_000023.11:g.154045956_154045957del, NC_000023.11:g.154045957del, NC_000023.11:g.154045957dup, NW_003871103.3:g.1479935_1479936del, NW_003871103.3:g.1479936del, NW_003871103.3:g.1479936dup, NG_007107.3:g.96154_96155del, NG_007107.3:g.96155del, NG_007107.3:g.96155dup, NC_000023.10:g.153311407_153311408del, NC_000023.10:g.153311408del, NC_000023.10:g.153311408dup

Select item 14913571336.

rs1491357133 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: X:154084187 (GRCh38)
X:153349640 (GRCh37)
Canonical SPDI:: NC_000023.11:154084186:CA:
Gene:: MECP2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000023.11:g.154084187_154084188del, NW_003871103.3:g.1518166_1518167del, NG_007107.3:g.57916_57917del, NC_000023.10:g.153349640_153349641del

Select item 14912122407.

rs1491212240 has merged into rs1293782587 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA,AAAAA [Show Flanks]
Chromosome:: X:154074024 (GRCh38)
X:153339475 (GRCh37)
Canonical SPDI:: NC_000023.11:154074017:AAAAAAAA:AAAAAA,NC_000023.11:154074017:AAAAAAAA:AAAAAAA,NC_000023.11:154074017:AAAAAAAA:AAAAAAAAA,NC_000023.11:154074017:AAAAAAAA:AAAAAAAAAAA
Gene:: MECP2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
-=0.000718/190 (TOPMED)
HGVS:: NC_000023.11:g.154074024_154074025del, NC_000023.11:g.154074025del, NC_000023.11:g.154074025dup, NC_000023.11:g.154074023_154074025dup, NW_003871103.3:g.1508003_1508004del, NW_003871103.3:g.1508004del, NW_003871103.3:g.1508004dup, NW_003871103.3:g.1508002_1508004dup, NG_007107.3:g.68085_68086del, NG_007107.3:g.68086del, NG_007107.3:g.68086dup, NG_007107.3:g.68084_68086dup, NC_000023.10:g.153339475_153339476del, NC_000023.10:g.153339476del, NC_000023.10:g.153339476dup, NC_000023.10:g.153339474_153339476dup

Select item 14911975308.

rs1491197530 has merged into rs35663879 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: X:154084196 (GRCh38)
X:153349649 (GRCh37)
Canonical SPDI:: NC_000023.11:154084187:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000023.11:154084187:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000023.11:154084187:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000023.11:154084187:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000023.11:154084187:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000023.11:154084187:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000023.11:154084187:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000023.11:154084187:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000023.11:154084187:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000023.11:154084187:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000023.11:154084187:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000023.11:154084187:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000023.11:154084187:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:154084187:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:154084187:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:154084187:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:154084187:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:154084187:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:154084187:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:154084187:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:154084187:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:154084187:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:154084187:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:154084187:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:154084187:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:154084187:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:154084187:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: MECP2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAA=0./0 (ALFA)
AA=0.10557/305 (ALSPAC)
AA=0.11165/414 (TWINSUK)
HGVS:: NC_000023.11:g.154084196_154084208del, NC_000023.11:g.154084197_154084208del, NC_000023.11:g.154084198_154084208del, NC_000023.11:g.154084199_154084208del, NC_000023.11:g.154084200_154084208del, NC_000023.11:g.154084201_154084208del, NC_000023.11:g.154084202_154084208del, NC_000023.11:g.154084203_154084208del, NC_000023.11:g.154084205_154084208del, NC_000023.11:g.154084206_154084208del, NC_000023.11:g.154084207_154084208del, NC_000023.11:g.154084208del, NC_000023.11:g.154084208dup, NC_000023.11:g.154084207_154084208dup, NC_000023.11:g.154084206_154084208dup, NC_000023.11:g.154084205_154084208dup, NC_000023.11:g.154084204_154084208dup, NC_000023.11:g.154084203_154084208dup, NC_000023.11:g.154084202_154084208dup, NC_000023.11:g.154084199_154084208dup, NC_000023.11:g.154084198_154084208dup, NC_000023.11:g.154084197_154084208dup, NC_000023.11:g.154084196_154084208dup, NC_000023.11:g.154084192_154084208dup, NC_000023.11:g.154084191_154084208dup, NC_000023.11:g.154084190_154084208dup, NC_000023.11:g.154084189_154084208dup, NW_003871103.3:g.1518175_1518187del, NW_003871103.3:g.1518176_1518187del, NW_003871103.3:g.1518177_1518187del, NW_003871103.3:g.1518178_1518187del, NW_003871103.3:g.1518179_1518187del, NW_003871103.3:g.1518180_1518187del, NW_003871103.3:g.1518181_1518187del, NW_003871103.3:g.1518182_1518187del, NW_003871103.3:g.1518184_1518187del, NW_003871103.3:g.1518185_1518187del, NW_003871103.3:g.1518186_1518187del, NW_003871103.3:g.1518187del, NW_003871103.3:g.1518187dup, NW_003871103.3:g.1518186_1518187dup, NW_003871103.3:g.1518185_1518187dup, NW_003871103.3:g.1518184_1518187dup, NW_003871103.3:g.1518183_1518187dup, NW_003871103.3:g.1518182_1518187dup, NW_003871103.3:g.1518181_1518187dup, NW_003871103.3:g.1518178_1518187dup, NW_003871103.3:g.1518177_1518187dup, NW_003871103.3:g.1518176_1518187dup, NW_003871103.3:g.1518175_1518187dup, NW_003871103.3:g.1518171_1518187dup, NW_003871103.3:g.1518170_1518187dup, NW_003871103.3:g.1518169_1518187dup, NW_003871103.3:g.1518168_1518187dup, NG_007107.3:g.57904_57916del, NG_007107.3:g.57905_57916del, NG_007107.3:g.57906_57916del, NG_007107.3:g.57907_57916del, NG_007107.3:g.57908_57916del, NG_007107.3:g.57909_57916del, NG_007107.3:g.57910_57916del, NG_007107.3:g.57911_57916del, NG_007107.3:g.57913_57916del, NG_007107.3:g.57914_57916del, NG_007107.3:g.57915_57916del, NG_007107.3:g.57916del, NG_007107.3:g.57916dup, NG_007107.3:g.57915_57916dup, NG_007107.3:g.57914_57916dup, NG_007107.3:g.57913_57916dup, NG_007107.3:g.57912_57916dup, NG_007107.3:g.57911_57916dup, NG_007107.3:g.57910_57916dup, NG_007107.3:g.57907_57916dup, NG_007107.3:g.57906_57916dup, NG_007107.3:g.57905_57916dup, NG_007107.3:g.57904_57916dup, NG_007107.3:g.57900_57916dup, NG_007107.3:g.57899_57916dup, NG_007107.3:g.57898_57916dup, NG_007107.3:g.57897_57916dup, NC_000023.10:g.153349650_153349662del, NC_000023.10:g.153349651_153349662del, NC_000023.10:g.153349652_153349662del, NC_000023.10:g.153349653_153349662del, NC_000023.10:g.153349654_153349662del, NC_000023.10:g.153349655_153349662del, NC_000023.10:g.153349656_153349662del, NC_000023.10:g.153349657_153349662del, NC_000023.10:g.153349659_153349662del, NC_000023.10:g.153349660_153349662del, NC_000023.10:g.153349661_153349662del, NC_000023.10:g.153349662del, NC_000023.10:g.153349662dup, NC_000023.10:g.153349661_153349662dup, NC_000023.10:g.153349660_153349662dup, NC_000023.10:g.153349659_153349662dup, NC_000023.10:g.153349658_153349662dup, NC_000023.10:g.153349657_153349662dup, NC_000023.10:g.153349656_153349662dup, NC_000023.10:g.153349653_153349662dup, NC_000023.10:g.153349652_153349662dup, NC_000023.10:g.153349651_153349662dup, NC_000023.10:g.153349650_153349662dup, NC_000023.10:g.153349646_153349662dup, NC_000023.10:g.153349645_153349662dup, NC_000023.10:g.153349644_153349662dup, NC_000023.10:g.153349643_153349662dup

Select item 14909631109.

rs1490963110 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:154093726 (GRCh38)
X:153359185 (GRCh37)
Canonical SPDI:: NC_000023.11:154093725:A:G
Gene:: MECP2 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.154093726A>G, NW_003871103.3:g.1527705A>G, NG_007107.3:g.48378T>C, NC_000023.10:g.153359185A>G

Select item 149090515210.

rs1490905152 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:154028686 (GRCh38)
X:153294137 (GRCh37)
Canonical SPDI:: NC_000023.11:154028685:G:A
Gene:: MECP2 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000029/3 (GnomAD)
A=0.000038/10 (TOPMED)
HGVS:: NC_000023.11:g.154028686G>A, NW_003871103.3:g.1462665G>A, NG_007107.3:g.113418C>T, NM_004992.4:c.*1681C>T, NM_004992.3:c.*1681C>T, NM_001369391.2:c.*1681C>T, NM_001316337.2:c.*1681C>T, NM_001369392.2:c.*1681C>T, NM_001369393.2:c.*1681C>T, NM_001369394.2:c.*1681C>T, NM_001110792.2:c.*1681C>T, NM_001386137.1:c.*1681C>T, NM_001386138.1:c.*1681C>T, NM_001386139.1:c.*1681C>T, NC_000023.10:g.153294137G>A, XM_024452383.2:c.*1681C>T, XM_024452383.1:c.*1681C>T, XM_047442121.1:c.*1681C>T, XM_047442116.1:c.*1681C>T, XM_047442118.1:c.*1681C>T, XM_047442119.1:c.*1681C>T, XM_047442120.1:c.*1681C>T, XM_047442115.1:c.*1681C>T, XM_047442117.1:c.*1681C>T, XM_047442122.1:c.*1681C>T

Select item 149081507511.

rs1490815075 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: X:154029449 (GRCh38)
X:153294900 (GRCh37)
Canonical SPDI:: NC_000023.11:154029448:C:G,NC_000023.11:154029448:C:T
Gene:: MECP2 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00001/1 (GnomAD)
G=0.000225/3 (TOMMO)
HGVS:: NC_000023.11:g.154029449C>G, NC_000023.11:g.154029449C>T, NW_003871103.3:g.1463428C>G, NW_003871103.3:g.1463428C>T, NG_007107.3:g.112655G>C, NG_007107.3:g.112655G>A, NM_004992.4:c.*918G>C, NM_004992.4:c.*918G>A, NM_004992.3:c.*918G>C, NM_004992.3:c.*918G>A, NM_001369391.2:c.*918G>C, NM_001369391.2:c.*918G>A, NM_001316337.2:c.*918G>C, NM_001316337.2:c.*918G>A, NM_001369392.2:c.*918G>C, NM_001369392.2:c.*918G>A, NM_001369393.2:c.*918G>C, NM_001369393.2:c.*918G>A, NM_001369394.2:c.*918G>C, NM_001369394.2:c.*918G>A, NM_001110792.2:c.*918G>C, NM_001110792.2:c.*918G>A, NM_001386137.1:c.*918G>C, NM_001386137.1:c.*918G>A, NM_001386138.1:c.*918G>C, NM_001386138.1:c.*918G>A, NM_001386139.1:c.*918G>C, NM_001386139.1:c.*918G>A, NC_000023.10:g.153294900C>G, NC_000023.10:g.153294900C>T, XM_024452383.2:c.*918G>C, XM_024452383.2:c.*918G>A, XM_024452383.1:c.*918G>C, XM_024452383.1:c.*918G>A, XM_047442121.1:c.*918G>C, XM_047442121.1:c.*918G>A, XM_047442116.1:c.*918G>C, XM_047442116.1:c.*918G>A, XM_047442118.1:c.*918G>C, XM_047442118.1:c.*918G>A, XM_047442119.1:c.*918G>C, XM_047442119.1:c.*918G>A, XM_047442120.1:c.*918G>C, XM_047442120.1:c.*918G>A, XM_047442115.1:c.*918G>C, XM_047442115.1:c.*918G>A, XM_047442117.1:c.*918G>C, XM_047442117.1:c.*918G>A, XM_047442122.1:c.*918G>C, XM_047442122.1:c.*918G>A

Select item 149078784712.

rs1490787847 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:154063289 (GRCh38)
X:153328740 (GRCh37)
Canonical SPDI:: NC_000023.11:154063288:C:T
Gene:: MECP2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000019/2 (GnomAD)
HGVS:: NC_000023.11:g.154063289C>T, NW_003871103.3:g.1497268C>T, NG_007107.3:g.78815G>A, NC_000023.10:g.153328740C>T

Select item 149074976913.

rs1490749769 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:154084182 (GRCh38)
X:153349635 (GRCh37)
Canonical SPDI:: NC_000023.11:154084181:C:T
Gene:: MECP2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000023.11:g.154084182C>T, NW_003871103.3:g.1518161C>T, NG_007107.3:g.57922G>A, NC_000023.10:g.153349635C>T

Select item 149070328414.

rs1490703284 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:154085617 (GRCh38)
X:153351070 (GRCh37)
Canonical SPDI:: NC_000023.11:154085616:A:G
Gene:: MECP2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.154085617A>G, NW_003871103.3:g.1519596A>G, NG_007107.3:g.56487T>C, NC_000023.10:g.153351070A>G

Select item 149066903715.

rs1490669037 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TA [Show Flanks]
Chromosome:: X:154042059 (GRCh38)
X:153307511 (GRCh37)
Canonical SPDI:: NC_000023.11:154042059:TATA:TATATA
Gene:: MECP2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TATATA=0./0 (ALFA)
TA=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.154042060TA[3], NW_003871103.3:g.1476039TA[3], NG_007107.3:g.100041TA[3], NC_000023.10:g.153307511TA[3]

Select item 149061044216.

rs1490610442 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:154064196 (GRCh38)
X:153329647 (GRCh37)
Canonical SPDI:: NC_000023.11:154064195:C:T
Gene:: MECP2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000029/3 (GnomAD)
T=0.000038/10 (TOPMED)
HGVS:: NC_000023.11:g.154064196C>T, NW_003871103.3:g.1498175C>T, NG_007107.3:g.77908G>A, NC_000023.10:g.153329647C>T

Select item 149054172417.

rs1490541724 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:154084957 (GRCh38)
X:153350410 (GRCh37)
Canonical SPDI:: NC_000023.11:154084956:G:A
Gene:: MECP2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.154084957G>A, NW_003871103.3:g.1518936G>A, NG_007107.3:g.57147C>T, NC_000023.10:g.153350410G>A

Select item 149045050618.

rs1490450506 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:154032866 (GRCh38)
X:153298317 (GRCh37)
Canonical SPDI:: NC_000023.11:154032865:A:G
Gene:: MECP2 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.154032866A>G, NW_003871103.3:g.1466845A>G, NG_007107.3:g.109238T>C, NC_000023.10:g.153298317A>G

Select item 149041218519.

rs1490412185 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:154053108 (GRCh38)
X:153318559 (GRCh37)
Canonical SPDI:: NC_000023.11:154053107:G:A
Gene:: MECP2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000042/11 (TOPMED)
A=0.000048/5 (GnomAD)
HGVS:: NC_000023.11:g.154053108G>A, NW_003871103.3:g.1487087G>A, NG_007107.3:g.88996C>T, NC_000023.10:g.153318559G>A

Select item 149039661520.

rs1490396615 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:154052065 (GRCh38)
X:153317516 (GRCh37)
Canonical SPDI:: NC_000023.11:154052064:A:G
Gene:: MECP2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.154052065A>G, NW_003871103.3:g.1486044A>G, NG_007107.3:g.90039T>C, NC_000023.10:g.153317516A>G

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