SNP Links for Gene (Select 81626) - SNP

Links from Gene

Items: 1 to 20 of 12787

<< First< Prev

Page of 640

Next >Last >>

Select item 14915814261.

rs1491581426 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 1:182924787 (GRCh38)
1:182893923 (GRCh37)
Canonical SPDI:: NC_000001.11:182924787:G:GG
Gene:: SHCBP1L (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GG=0./0 (ALFA)
HGVS:: NC_000001.11:g.182924788dup, NC_000001.10:g.182893923dup, NG_051596.1:g.33738dup

Select item 14915798222.

rs1491579822 has merged into rs11309339 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 1:182944966 (GRCh38)
1:182914101 (GRCh37)
Canonical SPDI:: NC_000001.11:182944957:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000001.11:182944957:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000001.11:182944957:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000001.11:182944957:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000001.11:182944957:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:182944957:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:182944957:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:182944957:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:182944957:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:182944957:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:182944957:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000001.11:182944957:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000001.11:182944957:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:182944957:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:182944957:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:182944957:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:182944957:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:182944957:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:182944957:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:182944957:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:182944957:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:182944957:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:182944957:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:182944957:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:182944957:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:182944957:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:182944957:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:182944957:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:182944957:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:182944957:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:182944957:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:182944957:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:182944957:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:182944957:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:182944957:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:182944957:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:182944957:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: SHCBP1L (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTT=0./0 (ALFA)
-=0.2/8 (GENOME_DK)
HGVS:: NC_000001.11:g.182944966_182944978del, NC_000001.11:g.182944967_182944978del, NC_000001.11:g.182944968_182944978del, NC_000001.11:g.182944969_182944978del, NC_000001.11:g.182944970_182944978del, NC_000001.11:g.182944971_182944978del, NC_000001.11:g.182944972_182944978del, NC_000001.11:g.182944973_182944978del, NC_000001.11:g.182944974_182944978del, NC_000001.11:g.182944976_182944978del, NC_000001.11:g.182944977_182944978del, NC_000001.11:g.182944978del, NC_000001.11:g.182944978dup, NC_000001.11:g.182944977_182944978dup, NC_000001.11:g.182944976_182944978dup, NC_000001.11:g.182944975_182944978dup, NC_000001.11:g.182944974_182944978dup, NC_000001.11:g.182944958_182944978T[26]CTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000001.11:g.182944973_182944978dup, NC_000001.11:g.182944972_182944978dup, NC_000001.11:g.182944971_182944978dup, NC_000001.11:g.182944970_182944978dup, NC_000001.11:g.182944969_182944978dup, NC_000001.11:g.182944968_182944978dup, NC_000001.11:g.182944967_182944978dup, NC_000001.11:g.182944966_182944978dup, NC_000001.11:g.182944965_182944978dup, NC_000001.11:g.182944964_182944978dup, NC_000001.11:g.182944963_182944978dup, NC_000001.11:g.182944962_182944978dup, NC_000001.11:g.182944961_182944978dup, NC_000001.11:g.182944959_182944978dup, NC_000001.11:g.182944958_182944978dup, NC_000001.11:g.182944978_182944979insTTTTTTTTTTTTTTTTTTTTTT, NC_000001.11:g.182944978_182944979insTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.11:g.182944978_182944979insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.11:g.182944978_182944979insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.182914101_182914113del, NC_000001.10:g.182914102_182914113del, NC_000001.10:g.182914103_182914113del, NC_000001.10:g.182914104_182914113del, NC_000001.10:g.182914105_182914113del, NC_000001.10:g.182914106_182914113del, NC_000001.10:g.182914107_182914113del, NC_000001.10:g.182914108_182914113del, NC_000001.10:g.182914109_182914113del, NC_000001.10:g.182914111_182914113del, NC_000001.10:g.182914112_182914113del, NC_000001.10:g.182914113del, NC_000001.10:g.182914113dup, NC_000001.10:g.182914112_182914113dup, NC_000001.10:g.182914111_182914113dup, NC_000001.10:g.182914110_182914113dup, NC_000001.10:g.182914109_182914113dup, NC_000001.10:g.182914093_182914113T[26]CTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000001.10:g.182914108_182914113dup, NC_000001.10:g.182914107_182914113dup, NC_000001.10:g.182914106_182914113dup, NC_000001.10:g.182914105_182914113dup, NC_000001.10:g.182914104_182914113dup, NC_000001.10:g.182914103_182914113dup, NC_000001.10:g.182914102_182914113dup, NC_000001.10:g.182914101_182914113dup, NC_000001.10:g.182914100_182914113dup, NC_000001.10:g.182914099_182914113dup, NC_000001.10:g.182914098_182914113dup, NC_000001.10:g.182914097_182914113dup, NC_000001.10:g.182914096_182914113dup, NC_000001.10:g.182914094_182914113dup, NC_000001.10:g.182914093_182914113dup, NC_000001.10:g.182914113_182914114insTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.182914113_182914114insTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.182914113_182914114insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.182914113_182914114insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_051596.1:g.13556_13568del, NG_051596.1:g.13557_13568del, NG_051596.1:g.13558_13568del, NG_051596.1:g.13559_13568del, NG_051596.1:g.13560_13568del, NG_051596.1:g.13561_13568del, NG_051596.1:g.13562_13568del, NG_051596.1:g.13563_13568del, NG_051596.1:g.13564_13568del, NG_051596.1:g.13566_13568del, NG_051596.1:g.13567_13568del, NG_051596.1:g.13568del, NG_051596.1:g.13568dup, NG_051596.1:g.13567_13568dup, NG_051596.1:g.13566_13568dup, NG_051596.1:g.13565_13568dup, NG_051596.1:g.13564_13568dup, NG_051596.1:g.13548_13568A[25]GAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_051596.1:g.13563_13568dup, NG_051596.1:g.13562_13568dup, NG_051596.1:g.13561_13568dup, NG_051596.1:g.13560_13568dup, NG_051596.1:g.13559_13568dup, NG_051596.1:g.13558_13568dup, NG_051596.1:g.13557_13568dup, NG_051596.1:g.13556_13568dup, NG_051596.1:g.13555_13568dup, NG_051596.1:g.13554_13568dup, NG_051596.1:g.13553_13568dup, NG_051596.1:g.13552_13568dup, NG_051596.1:g.13551_13568dup, NG_051596.1:g.13549_13568dup, NG_051596.1:g.13548_13568dup, NG_051596.1:g.13568_13569insAAAAAAAAAAAAAAAAAAAAAA, NG_051596.1:g.13568_13569insAAAAAAAAAAAAAAAAAAAAAAA, NG_051596.1:g.13568_13569insAAAAAAAAAAAAAAAAAAAAAAAA, NG_051596.1:g.13568_13569insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 14915458993.

rs1491545899 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 1:182907432 (GRCh38)
1:182876568 (GRCh37)
Canonical SPDI:: NC_000001.11:182907432::G
Gene:: SHCBP1L (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000038/2 (GnomAD)
HGVS:: NC_000001.11:g.182907432_182907433insG, NC_000001.10:g.182876567_182876568insG, NG_051596.1:g.51093_51094insC

Select item 14915252574.

rs1491525257 has merged into rs772984933 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA [Show Flanks]
Chromosome:: 1:182924977 (GRCh38)
1:182894112 (GRCh37)
Canonical SPDI:: NC_000001.11:182924974:AAAAAAAAA:AA,NC_000001.11:182924974:AAAAAAAAA:AAA,NC_000001.11:182924974:AAAAAAAAA:AAAA,NC_000001.11:182924974:AAAAAAAAA:AAAAA,NC_000001.11:182924974:AAAAAAAAA:AAAAAA,NC_000001.11:182924974:AAAAAAAAA:AAAAAAA,NC_000001.11:182924974:AAAAAAAAA:AAAAAAAA,NC_000001.11:182924974:AAAAAAAAA:AAAAAAAAAA,NC_000001.11:182924974:AAAAAAAAA:AAAAAAAAAAA,NC_000001.11:182924974:AAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:182924974:AAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:182924974:AAAAAAAAA:AAAAAAAAAAAAAA
Gene:: SHCBP1L (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
AAAAA=0.000004/1 (TOPMED)
-=0.008188/15 (Korea1K)
HGVS:: NC_000001.11:g.182924977_182924983del, NC_000001.11:g.182924978_182924983del, NC_000001.11:g.182924979_182924983del, NC_000001.11:g.182924980_182924983del, NC_000001.11:g.182924981_182924983del, NC_000001.11:g.182924982_182924983del, NC_000001.11:g.182924983del, NC_000001.11:g.182924983dup, NC_000001.11:g.182924982_182924983dup, NC_000001.11:g.182924981_182924983dup, NC_000001.11:g.182924980_182924983dup, NC_000001.11:g.182924979_182924983dup, NC_000001.10:g.182894112_182894118del, NC_000001.10:g.182894113_182894118del, NC_000001.10:g.182894114_182894118del, NC_000001.10:g.182894115_182894118del, NC_000001.10:g.182894116_182894118del, NC_000001.10:g.182894117_182894118del, NC_000001.10:g.182894118del, NC_000001.10:g.182894118dup, NC_000001.10:g.182894117_182894118dup, NC_000001.10:g.182894116_182894118dup, NC_000001.10:g.182894115_182894118dup, NC_000001.10:g.182894114_182894118dup, NG_051596.1:g.33545_33551del, NG_051596.1:g.33546_33551del, NG_051596.1:g.33547_33551del, NG_051596.1:g.33548_33551del, NG_051596.1:g.33549_33551del, NG_051596.1:g.33550_33551del, NG_051596.1:g.33551del, NG_051596.1:g.33551dup, NG_051596.1:g.33550_33551dup, NG_051596.1:g.33549_33551dup, NG_051596.1:g.33548_33551dup, NG_051596.1:g.33547_33551dup

Select item 14915169265.

rs1491516926 has merged into rs1238036723 [Homo sapiens]

Variant type:: DELINS
Alleles:: TATATATACACATATATATACACA>-,TATATATACACA,TATATATACACATATATATACACATATATATACACA,TATATATACACATATATATACACATATATATACACATATATATACACA [Show Flanks]
Chromosome:: 1:182918147 (GRCh38)
1:182887282 (GRCh37)
Canonical SPDI:: NC_000001.11:182918133:ATATATATACACATATATATACACATATATATACACA:ATATATATACACA,NC_000001.11:182918133:ATATATATACACATATATATACACATATATATACACA:ATATATATACACATATATATACACA,NC_000001.11:182918133:ATATATATACACATATATATACACATATATATACACA:ATATATATACACATATATATACACATATATATACACATATATATACACA,NC_000001.11:182918133:ATATATATACACATATATATACACATATATATACACA:ATATATATACACATATATATACACATATATATACACATATATATACACATATATATACACA
Gene:: SHCBP1L (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATATATACACA=0.000061/1 (ALFA)
-=0.000004/1 (TOPMED)
-=0.002867/48 (TOMMO)
HGVS:: NC_000001.11:g.182918135TATATATACACA[1], NC_000001.11:g.182918135TATATATACACA[2], NC_000001.11:g.182918135TATATATACACA[4], NC_000001.11:g.182918135TATATATACACA[5], NC_000001.10:g.182887270TATATATACACA[1], NC_000001.10:g.182887270TATATATACACA[2], NC_000001.10:g.182887270TATATATACACA[4], NC_000001.10:g.182887270TATATATACACA[5], NG_051596.1:g.40357GTGTATATATAT[1], NG_051596.1:g.40357GTGTATATATAT[2], NG_051596.1:g.40357GTGTATATATAT[4], NG_051596.1:g.40357GTGTATATATAT[5]

Select item 14915084666.

rs1491508466 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GAA,GAAAGAA,GAAAGAAAGAA,GAAAGAAAGAAAGAA,GAAAGAAAGAAAGAAAGAA,GAAAGAAAGAAAGAAAGAAAGAA,GAAAGAAAGAAAGAAAGAAAGAAAGAA [Show Flanks]
Chromosome:: 1:182924975 (GRCh38)
1:182894111 (GRCh37)
Canonical SPDI:: NC_000001.11:182924975:AA:AAGAA,NC_000001.11:182924975:AA:AAGAAAGAA,NC_000001.11:182924975:AA:AAGAAAGAAAGAA,NC_000001.11:182924975:AA:AAGAAAGAAAGAAAGAA,NC_000001.11:182924975:AA:AAGAAAGAAAGAAAGAAAGAA,NC_000001.11:182924975:AA:AAGAAAGAAAGAAAGAAAGAAAGAA,NC_000001.11:182924975:AA:AAGAAAGAAAGAAAGAAAGAAAGAAAGAA
Gene:: SHCBP1L (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAGAAAGAA=0./0 (ALFA)
AAGAAAGAAAG=0.00502/3 (NorthernSweden)
HGVS:: NC_000001.11:g.182924977_182924978insGAA, NC_000001.11:g.182924976_182924977AAGA[2]A[1], NC_000001.11:g.182924976_182924977AAGA[3]A[1], NC_000001.11:g.182924976_182924977AAGA[4]A[1], NC_000001.11:g.182924976_182924977AAGA[5]A[1], NC_000001.11:g.182924976_182924977AAGA[6]A[1], NC_000001.11:g.182924976_182924977AAGA[7]A[1], NC_000001.10:g.182894112_182894113insGAA, NC_000001.10:g.182894111_182894112AAGA[2]A[1], NC_000001.10:g.182894111_182894112AAGA[3]A[1], NC_000001.10:g.182894111_182894112AAGA[4]A[1], NC_000001.10:g.182894111_182894112AAGA[5]A[1], NC_000001.10:g.182894111_182894112AAGA[6]A[1], NC_000001.10:g.182894111_182894112AAGA[7]A[1], NG_051596.1:g.33550_33551insCTT, NG_051596.1:g.33549_33550TTCT[2]T[1], NG_051596.1:g.33549_33550TTCT[3]T[1], NG_051596.1:g.33549_33550TTCT[4]T[1], NG_051596.1:g.33549_33550TTCT[5]T[1], NG_051596.1:g.33549_33550TTCT[6]T[1], NG_051596.1:g.33549_33550TTCT[7]T[1]

Select item 14914982267.

rs1491498226 has merged into rs1322197736 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA,AAAA [Show Flanks]
Chromosome:: 1:182924952 (GRCh38)
1:182894087 (GRCh37)
Canonical SPDI:: NC_000001.11:182924950:AAA:A,NC_000001.11:182924950:AAA:AA,NC_000001.11:182924950:AAA:AAAA,NC_000001.11:182924950:AAA:AAAAA
Gene:: SHCBP1L (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000001.11:g.182924952_182924953del, NC_000001.11:g.182924953del, NC_000001.11:g.182924953dup, NC_000001.11:g.182924952_182924953dup, NC_000001.10:g.182894087_182894088del, NC_000001.10:g.182894088del, NC_000001.10:g.182894088dup, NC_000001.10:g.182894087_182894088dup, NG_051596.1:g.33574_33575del, NG_051596.1:g.33575del, NG_051596.1:g.33575dup, NG_051596.1:g.33574_33575dup

Select item 14914788778.

rs1491478877 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 1:182924704 (GRCh38)
1:182893839 (GRCh37)
Canonical SPDI:: NC_000001.11:182924702:AGA:A
Gene:: SHCBP1L (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.00017/2 (ALFA)
-=0.00222/59 (GnomAD)
HGVS:: NC_000001.11:g.182924704_182924705del, NC_000001.10:g.182893839_182893840del, NG_051596.1:g.33822_33823del

Select item 14914594129.

rs1491459412 has merged into rs71127329 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTTTTTT>-,TTT,TTTTTTT,TTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 1:182936135 (GRCh38)
1:182905270 (GRCh37)
Canonical SPDI:: NC_000001.11:182936130:TTTTTTTTTTTTTTTTTTTTTTT:TTTT,NC_000001.11:182936130:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTT,NC_000001.11:182936130:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000001.11:182936130:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:182936130:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:182936130:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:182936130:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:182936130:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000001.11:182936130:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000001.11:182936130:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000001.11:182936130:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:182936130:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:182936130:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:182936130:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:182936130:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:182936130:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:182936130:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:182936130:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:182936130:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:182936130:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:182936130:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:182936130:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:182936130:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:182936130:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:182936130:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:182936130:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:182936130:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:182936130:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:182936130:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:182936130:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:182936130:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:182936130:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:182936130:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:182936130:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:182936130:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:182936130:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: SHCBP1L (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
-=0.000019/5 (TOPMED)
TTTTTTTTTTTTTTTT=0.025/1 (GENOME_DK)
HGVS:: NC_000001.11:g.182936135_182936153del, NC_000001.11:g.182936138_182936153del, NC_000001.11:g.182936142_182936153del, NC_000001.11:g.182936143_182936153del, NC_000001.11:g.182936146_182936153del, NC_000001.11:g.182936148_182936153del, NC_000001.11:g.182936149_182936153del, NC_000001.11:g.182936150_182936153del, NC_000001.11:g.182936151_182936153del, NC_000001.11:g.182936152_182936153del, NC_000001.11:g.182936153del, NC_000001.11:g.182936153dup, NC_000001.11:g.182936131_182936153T[24]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000001.11:g.182936152_182936153dup, NC_000001.11:g.182936151_182936153dup, NC_000001.11:g.182936150_182936153dup, NC_000001.11:g.182936149_182936153dup, NC_000001.11:g.182936148_182936153dup, NC_000001.11:g.182936147_182936153dup, NC_000001.11:g.182936146_182936153dup, NC_000001.11:g.182936145_182936153dup, NC_000001.11:g.182936144_182936153dup, NC_000001.11:g.182936143_182936153dup, NC_000001.11:g.182936141_182936153dup, NC_000001.11:g.182936140_182936153dup, NC_000001.11:g.182936139_182936153dup, NC_000001.11:g.182936138_182936153dup, NC_000001.11:g.182936137_182936153dup, NC_000001.11:g.182936136_182936153dup, NC_000001.11:g.182936135_182936153dup, NC_000001.11:g.182936134_182936153dup, NC_000001.11:g.182936131_182936153dup, NC_000001.11:g.182936153_182936154insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.11:g.182936153_182936154insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.11:g.182936153_182936154insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.11:g.182936153_182936154insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.182905270_182905288del, NC_000001.10:g.182905273_182905288del, NC_000001.10:g.182905277_182905288del, NC_000001.10:g.182905278_182905288del, NC_000001.10:g.182905281_182905288del, NC_000001.10:g.182905283_182905288del, NC_000001.10:g.182905284_182905288del, NC_000001.10:g.182905285_182905288del, NC_000001.10:g.182905286_182905288del, NC_000001.10:g.182905287_182905288del, NC_000001.10:g.182905288del, NC_000001.10:g.182905288dup, NC_000001.10:g.182905266_182905288T[24]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000001.10:g.182905287_182905288dup, NC_000001.10:g.182905286_182905288dup, NC_000001.10:g.182905285_182905288dup, NC_000001.10:g.182905284_182905288dup, NC_000001.10:g.182905283_182905288dup, NC_000001.10:g.182905282_182905288dup, NC_000001.10:g.182905281_182905288dup, NC_000001.10:g.182905280_182905288dup, NC_000001.10:g.182905279_182905288dup, NC_000001.10:g.182905278_182905288dup, NC_000001.10:g.182905276_182905288dup, NC_000001.10:g.182905275_182905288dup, NC_000001.10:g.182905274_182905288dup, NC_000001.10:g.182905273_182905288dup, NC_000001.10:g.182905272_182905288dup, NC_000001.10:g.182905271_182905288dup, NC_000001.10:g.182905270_182905288dup, NC_000001.10:g.182905269_182905288dup, NC_000001.10:g.182905266_182905288dup, NC_000001.10:g.182905288_182905289insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.182905288_182905289insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.182905288_182905289insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.182905288_182905289insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_051596.1:g.22377_22395del, NG_051596.1:g.22380_22395del, NG_051596.1:g.22384_22395del, NG_051596.1:g.22385_22395del, NG_051596.1:g.22388_22395del, NG_051596.1:g.22390_22395del, NG_051596.1:g.22391_22395del, NG_051596.1:g.22392_22395del, NG_051596.1:g.22393_22395del, NG_051596.1:g.22394_22395del, NG_051596.1:g.22395del, NG_051596.1:g.22395dup, NG_051596.1:g.22373_22395A[36]GAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_051596.1:g.22394_22395dup, NG_051596.1:g.22393_22395dup, NG_051596.1:g.22392_22395dup, NG_051596.1:g.22391_22395dup, NG_051596.1:g.22390_22395dup, NG_051596.1:g.22389_22395dup, NG_051596.1:g.22388_22395dup, NG_051596.1:g.22387_22395dup, NG_051596.1:g.22386_22395dup, NG_051596.1:g.22385_22395dup, NG_051596.1:g.22383_22395dup, NG_051596.1:g.22382_22395dup, NG_051596.1:g.22381_22395dup, NG_051596.1:g.22380_22395dup, NG_051596.1:g.22379_22395dup, NG_051596.1:g.22378_22395dup, NG_051596.1:g.22377_22395dup, NG_051596.1:g.22376_22395dup, NG_051596.1:g.22373_22395dup, NG_051596.1:g.22395_22396insAAAAAAAAAAAAAAAAAAAAAAAA, NG_051596.1:g.22395_22396insAAAAAAAAAAAAAAAAAAAAAAAAA, NG_051596.1:g.22395_22396insAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_051596.1:g.22395_22396insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 149145306210.

rs1491453062 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>-,GAGAGA [Show Flanks]
Chromosome:: 1:182924716 (GRCh38)
1:182893851 (GRCh37)
Canonical SPDI:: NC_000001.11:182924714:AGA:A,NC_000001.11:182924714:AGA:AGAGAGA
Gene:: SHCBP1L (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AGAGAGA=0./0 (ALFA)
AGAG=0.00002/1 (GnomAD)
HGVS:: NC_000001.11:g.182924716_182924717del, NC_000001.11:g.182924716GA[3], NC_000001.10:g.182893851_182893852del, NC_000001.10:g.182893851GA[3], NG_051596.1:g.33810_33811del, NG_051596.1:g.33810CT[3]

Select item 149144460911.

rs1491444609 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G,GG [Show Flanks]
Chromosome:: 1:182924715 (GRCh38)
1:182893851 (GRCh37)
Canonical SPDI:: NC_000001.11:182924715:G:GG,NC_000001.11:182924715:G:GGG
Gene:: SHCBP1L (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGG=0./0 (ALFA)
G=0.00024/4 (TOMMO)
G=0.00047/23 (GnomAD)
HGVS:: NC_000001.11:g.182924716dup, NC_000001.11:g.182924716_182924717insGG, NC_000001.10:g.182893851dup, NC_000001.10:g.182893851_182893852insGG, NG_051596.1:g.33810dup, NG_051596.1:g.33810_33811insCC

Select item 149139801412.

rs1491398014 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 1:182924906 (GRCh38)
1:182894042 (GRCh37)
Canonical SPDI:: NC_000001.11:182924906::G
Gene:: SHCBP1L (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: G=0.015784/1790 (GnomAD)
HGVS:: NC_000001.11:g.182924906_182924907insG, NC_000001.10:g.182894041_182894042insG, NG_051596.1:g.33619_33620insC

Select item 149139201013.

rs1491392010 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>-,GAGA [Show Flanks]
Chromosome:: 1:182924974 (GRCh38)
1:182894109 (GRCh37)
Canonical SPDI:: NC_000001.11:182924972:AGA:A,NC_000001.11:182924972:AGA:AGAGA
Gene:: SHCBP1L (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAGA=0./0 (ALFA)
-=0.000015/2 (GnomAD)
HGVS:: NC_000001.11:g.182924974_182924975del, NC_000001.11:g.182924974_182924975dup, NC_000001.10:g.182894109_182894110del, NC_000001.10:g.182894109_182894110dup, NG_051596.1:g.33552_33553del, NG_051596.1:g.33552_33553dup

Select item 149136846914.

rs1491368469 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CAAGAAAGAAAGAAAGAAAG [Show Flanks]
Chromosome:: 1:182924951 (GRCh38)
1:182894087 (GRCh37)
Canonical SPDI:: NC_000001.11:182924951:AAGAAAGAAAGAAAGAAAG:AAGAAAGAAAGAAAGAAAGCAAGAAAGAAAGAAAGAAAG
Gene:: SHCBP1L (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: AAGAAAGAAAGAAAGAAAGC=0.000016/2 (GnomAD)
HGVS:: NC_000001.11:g.182924952_182924970AAGA[4]AAGCAAGAAAGAAAGAAAGAAAG[1], NC_000001.10:g.182894087_182894105AAGA[4]AAGCAAGAAAGAAAGAAAGAAAG[1], NG_051596.1:g.33556_33574CTTT[4]CTTGCTTTCTTTCTTTCTTTCTT[1]

Select item 149135020615.

rs1491350206 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,AAAA [Show Flanks]
Chromosome:: 1:182924794 (GRCh38)
1:182893929 (GRCh37)
Canonical SPDI:: NC_000001.11:182924792:AAA:A,NC_000001.11:182924792:AAA:AAAAA
Gene:: SHCBP1L (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00006/1 (ALFA)
HGVS:: NC_000001.11:g.182924794_182924795del, NC_000001.11:g.182924794_182924795dup, NC_000001.10:g.182893929_182893930del, NC_000001.10:g.182893929_182893930dup, NG_051596.1:g.33732_33733del, NG_051596.1:g.33732_33733dup

Select item 149132349116.

rs1491323491 has merged into rs767553592 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTTTTT>-,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 1:182943284 (GRCh38)
1:182912419 (GRCh37)
Canonical SPDI:: NC_000001.11:182943275:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000001.11:182943275:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:182943275:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:182943275:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:182943275:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:182943275:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:182943275:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:182943275:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:182943275:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000001.11:182943275:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000001.11:182943275:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000001.11:182943275:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:182943275:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:182943275:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:182943275:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:182943275:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:182943275:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:182943275:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:182943275:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:182943275:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:182943275:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:182943275:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:182943275:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:182943275:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:182943275:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: SHCBP1L (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTT=0./0 (ALFA)
TTTTTTTT=0./0 (GENOME_DK)
HGVS:: NC_000001.11:g.182943284_182943301del, NC_000001.11:g.182943288_182943301del, NC_000001.11:g.182943289_182943301del, NC_000001.11:g.182943290_182943301del, NC_000001.11:g.182943291_182943301del, NC_000001.11:g.182943292_182943301del, NC_000001.11:g.182943293_182943301del, NC_000001.11:g.182943294_182943301del, NC_000001.11:g.182943295_182943301del, NC_000001.11:g.182943296_182943301del, NC_000001.11:g.182943297_182943301del, NC_000001.11:g.182943298_182943301del, NC_000001.11:g.182943299_182943301del, NC_000001.11:g.182943300_182943301del, NC_000001.11:g.182943301del, NC_000001.11:g.182943301dup, NC_000001.11:g.182943300_182943301dup, NC_000001.11:g.182943299_182943301dup, NC_000001.11:g.182943298_182943301dup, NC_000001.11:g.182943297_182943301dup, NC_000001.11:g.182943295_182943301dup, NC_000001.11:g.182943294_182943301dup, NC_000001.11:g.182943291_182943301dup, NC_000001.11:g.182943290_182943301dup, NC_000001.11:g.182943301_182943302insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.182912419_182912436del, NC_000001.10:g.182912423_182912436del, NC_000001.10:g.182912424_182912436del, NC_000001.10:g.182912425_182912436del, NC_000001.10:g.182912426_182912436del, NC_000001.10:g.182912427_182912436del, NC_000001.10:g.182912428_182912436del, NC_000001.10:g.182912429_182912436del, NC_000001.10:g.182912430_182912436del, NC_000001.10:g.182912431_182912436del, NC_000001.10:g.182912432_182912436del, NC_000001.10:g.182912433_182912436del, NC_000001.10:g.182912434_182912436del, NC_000001.10:g.182912435_182912436del, NC_000001.10:g.182912436del, NC_000001.10:g.182912436dup, NC_000001.10:g.182912435_182912436dup, NC_000001.10:g.182912434_182912436dup, NC_000001.10:g.182912433_182912436dup, NC_000001.10:g.182912432_182912436dup, NC_000001.10:g.182912430_182912436dup, NC_000001.10:g.182912429_182912436dup, NC_000001.10:g.182912426_182912436dup, NC_000001.10:g.182912425_182912436dup, NC_000001.10:g.182912436_182912437insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_051596.1:g.15233_15250del, NG_051596.1:g.15237_15250del, NG_051596.1:g.15238_15250del, NG_051596.1:g.15239_15250del, NG_051596.1:g.15240_15250del, NG_051596.1:g.15241_15250del, NG_051596.1:g.15242_15250del, NG_051596.1:g.15243_15250del, NG_051596.1:g.15244_15250del, NG_051596.1:g.15245_15250del, NG_051596.1:g.15246_15250del, NG_051596.1:g.15247_15250del, NG_051596.1:g.15248_15250del, NG_051596.1:g.15249_15250del, NG_051596.1:g.15250del, NG_051596.1:g.15250dup, NG_051596.1:g.15249_15250dup, NG_051596.1:g.15248_15250dup, NG_051596.1:g.15247_15250dup, NG_051596.1:g.15246_15250dup, NG_051596.1:g.15244_15250dup, NG_051596.1:g.15243_15250dup, NG_051596.1:g.15240_15250dup, NG_051596.1:g.15239_15250dup, NG_051596.1:g.15250_15251insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 149132279717.

rs1491322797 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>- [Show Flanks]
Chromosome:: 1:182924907 (GRCh38)
1:182894042 (GRCh37)
Canonical SPDI:: NC_000001.11:182924905:AAA:A
Gene:: SHCBP1L (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00042/5 (ALFA)
-=0.00253/249 (GnomAD)
-=0.00375/24 (1000Genomes)
HGVS:: NC_000001.11:g.182924907_182924908del, NC_000001.10:g.182894042_182894043del, NG_051596.1:g.33619_33620del

Select item 149132067918.

rs1491320679 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TTGTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 1:182936131 (GRCh38)
1:182905267 (GRCh37)
Canonical SPDI:: NC_000001.11:182936131:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTT
Gene:: SHCBP1L (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000001.11:g.182936132_182936153T[24]GTTTTTTTTTTTTTTTTTTTTTT[1], NC_000001.10:g.182905267_182905288T[24]GTTTTTTTTTTTTTTTTTTTTTT[1], NG_051596.1:g.22373_22394A[22]CAAAAAAAAAAAAAAAAAAAAAAAA[1]

Select item 149129752919.

rs1491297529 [Homo sapiens]

Variant type:: INS
Alleles:: ->G,GAAAGG,GAAAGGAAGG,GAAAGGAAGGAAGG,GG [Show Flanks]
Chromosome:: 1:182924793 (GRCh38)
1:182893929 (GRCh37)
Canonical SPDI:: NC_000001.11:182924793::G,NC_000001.11:182924793::GAAAGG,NC_000001.11:182924793::GAAAGGAAGG,NC_000001.11:182924793::GAAAGGAAGGAAGG,NC_000001.11:182924793::GG
Gene:: SHCBP1L (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GAAAGGAAGG=0./0 (ALFA)
GAAAGG=0.00055/1 (Korea1K)
GAAAGG=0.00122/20 (TOMMO)
HGVS:: NC_000001.11:g.182924793_182924794insG, NC_000001.11:g.182924793_182924794insGAAAGG, NC_000001.11:g.182924793_182924794insGAAAGGAAGG, NC_000001.11:g.182924793_182924794insGAAAGGAAGGAAGG, NC_000001.11:g.182924793_182924794insGG, NC_000001.10:g.182893928_182893929insG, NC_000001.10:g.182893928_182893929insGAAAGG, NC_000001.10:g.182893928_182893929insGAAAGGAAGG, NC_000001.10:g.182893928_182893929insGAAAGGAAGGAAGG, NC_000001.10:g.182893928_182893929insGG, NG_051596.1:g.33732_33733insC, NG_051596.1:g.33732_33733insCCTTTC, NG_051596.1:g.33732_33733insCCTTCCTTTC, NG_051596.1:g.33732_33733insCCTTCCTTCCTTTC, NG_051596.1:g.33732_33733insCC

Select item 149128224020.

rs1491282240 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 1:182924973 (GRCh38)
1:182894109 (GRCh37)
Canonical SPDI:: NC_000001.11:182924973:G:GG
Gene:: SHCBP1L (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GG=0./0 (ALFA)
HGVS:: NC_000001.11:g.182924974dup, NC_000001.10:g.182894109dup, NG_051596.1:g.33552dup

<< First< Prev

Page of 640

Next >Last >>

dbSNP

Result Filters

Validation Status

Publication

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Gene

Items: 1 to 20 of 12787

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity