SNP Links for Gene (Select 84925) - SNP

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Select item 14915013171.

rs1491501317 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TG [Show Flanks]
Chromosome:: 3:122817534 (GRCh38)
3:122536382 (GRCh37)
Canonical SPDI:: NC_000003.12:122817534:TGTGTGTGTG:TGTGTGTGTGTG
Gene:: SLC49A4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGTGTG=0.000084/1 (ALFA)
TG=0.000079/11 (GnomAD)
TG=0.000119/2 (TOMMO)
HGVS:: NC_000003.12:g.122817535TG[6], NC_000003.11:g.122536382TG[6], NG_023324.1:g.27482TG[6]

Select item 14915009192.

rs1491500919 has merged into rs71621693 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 3:122824737 (GRCh38)
3:122543584 (GRCh37)
Canonical SPDI:: NC_000003.12:122824730:TTTTTTTTTTTTTTTTTTTT:TTTTTT,NC_000003.12:122824730:TTTTTTTTTTTTTTTTTTTT:TTTTTTT,NC_000003.12:122824730:TTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000003.12:122824730:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000003.12:122824730:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000003.12:122824730:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000003.12:122824730:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000003.12:122824730:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000003.12:122824730:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000003.12:122824730:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000003.12:122824730:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000003.12:122824730:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000003.12:122824730:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000003.12:122824730:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000003.12:122824730:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000003.12:122824730:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:122824730:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:122824730:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:122824730:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:122824730:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:122824730:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:122824730:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:122824730:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:122824730:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:122824730:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:122824730:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:122824730:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: SLC49A4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTT=0./0 (ALFA)
-=0.33446/1675 (1000Genomes)
HGVS:: NC_000003.12:g.122824737_122824750del, NC_000003.12:g.122824738_122824750del, NC_000003.12:g.122824739_122824750del, NC_000003.12:g.122824740_122824750del, NC_000003.12:g.122824741_122824750del, NC_000003.12:g.122824742_122824750del, NC_000003.12:g.122824743_122824750del, NC_000003.12:g.122824744_122824750del, NC_000003.12:g.122824745_122824750del, NC_000003.12:g.122824746_122824750del, NC_000003.12:g.122824747_122824750del, NC_000003.12:g.122824748_122824750del, NC_000003.12:g.122824749_122824750del, NC_000003.12:g.122824750del, NC_000003.12:g.122824750dup, NC_000003.12:g.122824749_122824750dup, NC_000003.12:g.122824748_122824750dup, NC_000003.12:g.122824747_122824750dup, NC_000003.12:g.122824746_122824750dup, NC_000003.12:g.122824745_122824750dup, NC_000003.12:g.122824744_122824750dup, NC_000003.12:g.122824743_122824750dup, NC_000003.12:g.122824742_122824750dup, NC_000003.12:g.122824737_122824750dup, NC_000003.12:g.122824736_122824750dup, NC_000003.12:g.122824735_122824750dup, NC_000003.12:g.122824750_122824751insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.122543584_122543597del, NC_000003.11:g.122543585_122543597del, NC_000003.11:g.122543586_122543597del, NC_000003.11:g.122543587_122543597del, NC_000003.11:g.122543588_122543597del, NC_000003.11:g.122543589_122543597del, NC_000003.11:g.122543590_122543597del, NC_000003.11:g.122543591_122543597del, NC_000003.11:g.122543592_122543597del, NC_000003.11:g.122543593_122543597del, NC_000003.11:g.122543594_122543597del, NC_000003.11:g.122543595_122543597del, NC_000003.11:g.122543596_122543597del, NC_000003.11:g.122543597del, NC_000003.11:g.122543597dup, NC_000003.11:g.122543596_122543597dup, NC_000003.11:g.122543595_122543597dup, NC_000003.11:g.122543594_122543597dup, NC_000003.11:g.122543593_122543597dup, NC_000003.11:g.122543592_122543597dup, NC_000003.11:g.122543591_122543597dup, NC_000003.11:g.122543590_122543597dup, NC_000003.11:g.122543589_122543597dup, NC_000003.11:g.122543584_122543597dup, NC_000003.11:g.122543583_122543597dup, NC_000003.11:g.122543582_122543597dup, NC_000003.11:g.122543597_122543598insTTTTTTTTTTTTTTTTTTTTTTTT, NG_023324.1:g.34684_34697del, NG_023324.1:g.34685_34697del, NG_023324.1:g.34686_34697del, NG_023324.1:g.34687_34697del, NG_023324.1:g.34688_34697del, NG_023324.1:g.34689_34697del, NG_023324.1:g.34690_34697del, NG_023324.1:g.34691_34697del, NG_023324.1:g.34692_34697del, NG_023324.1:g.34693_34697del, NG_023324.1:g.34694_34697del, NG_023324.1:g.34695_34697del, NG_023324.1:g.34696_34697del, NG_023324.1:g.34697del, NG_023324.1:g.34697dup, NG_023324.1:g.34696_34697dup, NG_023324.1:g.34695_34697dup, NG_023324.1:g.34694_34697dup, NG_023324.1:g.34693_34697dup, NG_023324.1:g.34692_34697dup, NG_023324.1:g.34691_34697dup, NG_023324.1:g.34690_34697dup, NG_023324.1:g.34689_34697dup, NG_023324.1:g.34684_34697dup, NG_023324.1:g.34683_34697dup, NG_023324.1:g.34682_34697dup, NG_023324.1:g.34697_34698insTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14915006753.

rs1491500675 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 3:122817534 (GRCh38)
3:122536381 (GRCh37)
Canonical SPDI:: NC_000003.12:122817533:AT:
Gene:: SLC49A4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.122817534_122817535del, NC_000003.11:g.122536381_122536382del, NG_023324.1:g.27481_27482del

Select item 14913921224.

rs1491392122 has merged into rs35644046 [Homo sapiens]

Variant type:: DELINS
Alleles:: TATATA>-,TA,TATA,TATATATA,TATATATATA [Show Flanks]
Chromosome:: 3:122844884 (GRCh38)
3:122563731 (GRCh37)
Canonical SPDI:: NC_000003.12:122844872:ATATATATATATATATA:ATATATATATA,NC_000003.12:122844872:ATATATATATATATATA:ATATATATATATA,NC_000003.12:122844872:ATATATATATATATATA:ATATATATATATATA,NC_000003.12:122844872:ATATATATATATATATA:ATATATATATATATATATA,NC_000003.12:122844872:ATATATATATATATATA:ATATATATATATATATATATA
Gene:: SLC49A4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATATATATATATATATA=0./0 (ALFA)
-=0.059938/231 (ALSPAC)
AT=0.2/8 (GENOME_DK)
AT=0.308333/185 (NorthernSweden)
AT=0.333322/88227 (TOPMED)
AT=0.372404/1865 (1000Genomes)
HGVS:: NC_000003.12:g.122844874TA[5], NC_000003.12:g.122844874TA[6], NC_000003.12:g.122844874TA[7], NC_000003.12:g.122844874TA[9], NC_000003.12:g.122844874TA[10], NC_000003.11:g.122563721TA[5], NC_000003.11:g.122563721TA[6], NC_000003.11:g.122563721TA[7], NC_000003.11:g.122563721TA[9], NC_000003.11:g.122563721TA[10], NG_023324.1:g.54821TA[5], NG_023324.1:g.54821TA[6], NG_023324.1:g.54821TA[7], NG_023324.1:g.54821TA[9], NG_023324.1:g.54821TA[10]

Select item 14913719075.

rs1491371907 [Homo sapiens]

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

Select item 14913636406.

rs1491363640 has merged into rs55742114 [Homo sapiens]

Variant type:: DELINS
Alleles:: TATA>-,TA,TATATA,TATATATA,TATATATATA [Show Flanks]
Chromosome:: 3:122807235 (GRCh38)
3:122526082 (GRCh37)
Canonical SPDI:: NC_000003.12:122807224:TATATATATATATA:TATATATATA,NC_000003.12:122807224:TATATATATATATA:TATATATATATA,NC_000003.12:122807224:TATATATATATATA:TATATATATATATATA,NC_000003.12:122807224:TATATATATATATA:TATATATATATATATATA,NC_000003.12:122807224:TATATATATATATA:TATATATATATATATATATA
Gene:: SLC49A4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATATATATATATATA=0./0 (ALFA)
TA=0.246401/1027 (Estonian)
TA=0.311904/82558 (TOPMED)
TA=0.365975/1764 (1000Genomes)
HGVS:: NC_000003.12:g.122807225TA[5], NC_000003.12:g.122807225TA[6], NC_000003.12:g.122807225TA[8], NC_000003.12:g.122807225TA[9], NC_000003.12:g.122807225TA[10], NC_000003.11:g.122526072TA[5], NC_000003.11:g.122526072TA[6], NC_000003.11:g.122526072TA[8], NC_000003.11:g.122526072TA[9], NC_000003.11:g.122526072TA[10], NG_023324.1:g.17172TA[5], NG_023324.1:g.17172TA[6], NG_023324.1:g.17172TA[8], NG_023324.1:g.17172TA[9], NG_023324.1:g.17172TA[10]

Select item 14911906727.

rs1491190672 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: 3:122844872 (GRCh38)
3:122563719 (GRCh37)
Canonical SPDI:: NC_000003.12:122844871:AA:
Gene:: SLC49A4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000014/1 (GnomAD)
HGVS:: NC_000003.12:g.122844872_122844873del, NC_000003.11:g.122563719_122563720del, NG_023324.1:g.54819_54820del

Select item 14911682868.

rs1491168286 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 3:122819243 (GRCh38)
3:122538090 (GRCh37)
Canonical SPDI:: NC_000003.12:122819242:CA:
Gene:: SLC49A4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000003.12:g.122819243_122819244del, NC_000003.11:g.122538090_122538091del, NG_023324.1:g.29190_29191del

Select item 14910868379.

rs1491086837 has merged into rs35604258 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTATTCCTTTCTTCTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 3:122845617 (GRCh38)
3:122564464 (GRCh37)
Canonical SPDI:: NC_000003.12:122845607:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000003.12:122845607:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000003.12:122845607:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000003.12:122845607:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000003.12:122845607:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000003.12:122845607:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000003.12:122845607:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000003.12:122845607:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000003.12:122845607:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000003.12:122845607:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000003.12:122845607:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:122845607:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:122845607:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:122845607:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:122845607:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:122845607:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:122845607:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:122845607:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:122845607:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTCCTTTCTTCTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:122845607:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:122845607:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:122845607:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:122845607:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:122845607:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:122845607:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: SLC49A4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.122845617_122845628del, NC_000003.12:g.122845618_122845628del, NC_000003.12:g.122845619_122845628del, NC_000003.12:g.122845620_122845628del, NC_000003.12:g.122845622_122845628del, NC_000003.12:g.122845623_122845628del, NC_000003.12:g.122845625_122845628del, NC_000003.12:g.122845626_122845628del, NC_000003.12:g.122845627_122845628del, NC_000003.12:g.122845628del, NC_000003.12:g.122845628dup, NC_000003.12:g.122845627_122845628dup, NC_000003.12:g.122845626_122845628dup, NC_000003.12:g.122845625_122845628dup, NC_000003.12:g.122845624_122845628dup, NC_000003.12:g.122845623_122845628dup, NC_000003.12:g.122845622_122845628dup, NC_000003.12:g.122845620_122845628dup, NC_000003.12:g.122845608_122845628T[31]ATTCCTTTCTTCTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000003.12:g.122845618_122845628dup, NC_000003.12:g.122845617_122845628dup, NC_000003.12:g.122845615_122845628dup, NC_000003.12:g.122845628_122845629insTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.122845628_122845629insTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.122845628_122845629insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.122564464_122564475del, NC_000003.11:g.122564465_122564475del, NC_000003.11:g.122564466_122564475del, NC_000003.11:g.122564467_122564475del, NC_000003.11:g.122564469_122564475del, NC_000003.11:g.122564470_122564475del, NC_000003.11:g.122564472_122564475del, NC_000003.11:g.122564473_122564475del, NC_000003.11:g.122564474_122564475del, NC_000003.11:g.122564475del, NC_000003.11:g.122564475dup, NC_000003.11:g.122564474_122564475dup, NC_000003.11:g.122564473_122564475dup, NC_000003.11:g.122564472_122564475dup, NC_000003.11:g.122564471_122564475dup, NC_000003.11:g.122564470_122564475dup, NC_000003.11:g.122564469_122564475dup, NC_000003.11:g.122564467_122564475dup, NC_000003.11:g.122564455_122564475T[31]ATTCCTTTCTTCTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000003.11:g.122564465_122564475dup, NC_000003.11:g.122564464_122564475dup, NC_000003.11:g.122564462_122564475dup, NC_000003.11:g.122564475_122564476insTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.122564475_122564476insTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.122564475_122564476insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_023324.1:g.55564_55575del, NG_023324.1:g.55565_55575del, NG_023324.1:g.55566_55575del, NG_023324.1:g.55567_55575del, NG_023324.1:g.55569_55575del, NG_023324.1:g.55570_55575del, NG_023324.1:g.55572_55575del, NG_023324.1:g.55573_55575del, NG_023324.1:g.55574_55575del, NG_023324.1:g.55575del, NG_023324.1:g.55575dup, NG_023324.1:g.55574_55575dup, NG_023324.1:g.55573_55575dup, NG_023324.1:g.55572_55575dup, NG_023324.1:g.55571_55575dup, NG_023324.1:g.55570_55575dup, NG_023324.1:g.55569_55575dup, NG_023324.1:g.55567_55575dup, NG_023324.1:g.55555_55575T[31]ATTCCTTTCTTCTTTTTTTTTTTTTTTTTTTTTTT[1], NG_023324.1:g.55565_55575dup, NG_023324.1:g.55564_55575dup, NG_023324.1:g.55562_55575dup, NG_023324.1:g.55575_55576insTTTTTTTTTTTTTTTTTTTTTT, NG_023324.1:g.55575_55576insTTTTTTTTTTTTTTTTTTTTTTT, NG_023324.1:g.55575_55576insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 149106229610.

rs1491062296 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AC [Show Flanks]
Chromosome:: 3:122844888 (GRCh38)
3:122563736 (GRCh37)
Canonical SPDI:: NC_000003.12:122844888:AC:ACAC
Gene:: SLC49A4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACAC=0./0 (ALFA)
AC=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.122844889_122844890dup, NC_000003.11:g.122563736_122563737dup, NG_023324.1:g.54836_54837dup

Select item 149103631211.

rs1491036312 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 3:122870844 (GRCh38)
3:122589691 (GRCh37)
Canonical SPDI:: NC_000003.12:122870843:TA:
Gene:: SLC49A4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
HGVS:: NC_000003.12:g.122870844_122870845del, NC_000003.11:g.122589691_122589692del, NG_023324.1:g.80791_80792del

Select item 149101159712.

rs1491011597 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 3:122884397 (GRCh38)
3:122603245 (GRCh37)
Canonical SPDI:: NC_000003.12:122884397:T:TT
Validated:: by frequency,by alfa
MAF:: TT=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.122884398dup, NC_000003.11:g.122603245dup

Select item 149089781713.

rs1490897817 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:122891784 (GRCh38)
3:122610631 (GRCh37)
Canonical SPDI:: NC_000003.12:122891783:G:A
Gene:: LINC02035 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000003.12:g.122891784G>A, NC_000003.11:g.122610631G>A, NR_024618.1:n.5272G>A, NM_001123328.1:c.*4443G>A

Select item 149087804714.

rs1490878047 [Homo sapiens]

Variant type:: DELINS
Alleles:: AC>- [Show Flanks]
Chromosome:: 3:122831964 (GRCh38)
3:122550811 (GRCh37)
Canonical SPDI:: NC_000003.12:122831961:ACAC:AC
Gene:: SLC49A4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACAC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.122831962AC[1], NC_000003.11:g.122550809AC[1], NG_023324.1:g.41909AC[1]

Select item 149085067215.

rs1490850672 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,G [Show Flanks]
Chromosome:: 3:122815919 (GRCh38)
3:122534766 (GRCh37)
Canonical SPDI:: NC_000003.12:122815918:T:A,NC_000003.12:122815918:T:G
Gene:: SLC49A4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.122815919T>A, NC_000003.12:g.122815919T>G, NC_000003.11:g.122534766T>A, NC_000003.11:g.122534766T>G, NG_023324.1:g.25866T>A, NG_023324.1:g.25866T>G

Select item 149082893816.

rs1490828938 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:122885114 (GRCh38)
3:122603961 (GRCh37)
Canonical SPDI:: NC_000003.12:122885113:G:A
Gene:: LINC02035 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.122885114G>A, NC_000003.11:g.122603961G>A

Select item 149070920617.

rs1490709206 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:122882702 (GRCh38)
3:122601549 (GRCh37)
Canonical SPDI:: NC_000003.12:122882701:T:C
Validated:: by frequency
MAF:: C=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.122882702T>C, NC_000003.11:g.122601549T>C, NG_023324.1:g.92649T>C

Select item 149069779818.

rs1490697798 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 3:122883092 (GRCh38)
3:122601939 (GRCh37)
Canonical SPDI:: NC_000003.12:122883091:C:A,NC_000003.12:122883091:C:T
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.122883092C>A, NC_000003.12:g.122883092C>T, NC_000003.11:g.122601939C>A, NC_000003.11:g.122601939C>T, NG_023324.1:g.93039C>A, NG_023324.1:g.93039C>T

Select item 149068836519.

rs1490688365 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:122844165 (GRCh38)
3:122563012 (GRCh37)
Canonical SPDI:: NC_000003.12:122844164:A:G
Gene:: SLC49A4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.122844165A>G, NC_000003.11:g.122563012A>G, NG_023324.1:g.54112A>G

Select item 149066928020.

rs1490669280 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:122857376 (GRCh38)
3:122576223 (GRCh37)
Canonical SPDI:: NC_000003.12:122857375:A:G
Gene:: SLC49A4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000003.12:g.122857376A>G, NC_000003.11:g.122576223A>G, NG_023324.1:g.67323A>G

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