SNP Links for Gene (Select 4648) - SNP

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Select item 14915451581.

rs1491545158 has merged into rs34222904 [Homo sapiens]

Variant type:: DELINS
Alleles:: AGAG>-,AG,AGAGAG,AGAGAGAG [Show Flanks]
Chromosome:: 2:127562038 (GRCh38)
2:128319613 (GRCh37)
Canonical SPDI:: NC_000002.12:127562028:GAGAGAGAGAGAG:GAGAGAGAG,NC_000002.12:127562028:GAGAGAGAGAGAG:GAGAGAGAGAG,NC_000002.12:127562028:GAGAGAGAGAGAG:GAGAGAGAGAGAGAG,NC_000002.12:127562028:GAGAGAGAGAGAG:GAGAGAGAGAGAGAGAG
Gene:: MYO7B (Varview), LOC105373609 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GAGAGAGAGAG=0./0 (ALFA)
GA=0.12/72 (NorthernSweden)
GA=0.14329/143 (GoNL)
GA=0.14816/742 (1000Genomes)
GA=0.175/7 (GENOME_DK)
HGVS:: NC_000002.12:g.127562030AG[4], NC_000002.12:g.127562030AG[5], NC_000002.12:g.127562030AG[7], NC_000002.12:g.127562030AG[8], NC_000002.11:g.128319605AG[4], NC_000002.11:g.128319605AG[5], NC_000002.11:g.128319605AG[7], NC_000002.11:g.128319605AG[8], NG_052848.1:g.31342AG[4], NG_052848.1:g.31342AG[5], NG_052848.1:g.31342AG[7], NG_052848.1:g.31342AG[8]

Select item 14915201282.

rs1491520128 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CTT [Show Flanks]
Chromosome:: 2:127587569 (GRCh38)
2:128345145 (GRCh37)
Canonical SPDI:: NC_000002.12:127587569:TT:TTCTT
Gene:: MYO7B (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TTCTT=0./0 (ALFA)
TTC=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.127587571_127587572insCTT, NC_000002.11:g.128345146_128345147insCTT, NG_052848.1:g.56883_56884insCTT

Select item 14914644393.

rs1491464439 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GTTTTTTT [Show Flanks]
Chromosome:: 2:127571443 (GRCh38)
2:128329019 (GRCh37)
Canonical SPDI:: NC_000002.12:127571443:TTTTTTT:TTTTTTTGTTTTTTT
Gene:: MYO7B (Varview), LOC105373609 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTGTTTTTTT=0./0 (ALFA)
TTTTTTTG=0.00011/7 (GnomAD)
HGVS:: NC_000002.12:g.127571444_127571450T[7]GTTTTTTT[1], NC_000002.11:g.128329019_128329025T[7]GTTTTTTT[1], NG_052848.1:g.40756_40762T[7]GTTTTTTT[1]

Select item 14914277374.

rs1491427737 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 2:127616822 (GRCh38)
2:128374397 (GRCh37)
Canonical SPDI:: NC_000002.12:127616821:AG:
Gene:: MYO7B (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000019/5 (TOPMED)
HGVS:: NC_000002.12:g.127616822_127616823del, NC_000002.11:g.128374397_128374398del, NG_052848.1:g.86134_86135del

Select item 14913716635.

rs1491371663 has merged into rs59002626 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 2:127560039 (GRCh38)
2:128317614 (GRCh37)
Canonical SPDI:: NC_000002.12:127560030:TTTTTTTTTTTTTT:TTTTTTTT,NC_000002.12:127560030:TTTTTTTTTTTTTT:TTTTTTTTTT,NC_000002.12:127560030:TTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000002.12:127560030:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000002.12:127560030:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:127560030:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:127560030:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:127560030:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:127560030:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000002.12:127560030:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000002.12:127560030:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000002.12:127560030:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000002.12:127560030:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:127560030:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: MYO7B (Varview), LOC105373609 (Varview)
Functional Consequence:: downstream_transcript_variant,intron_variant,genic_upstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
T=0.4525/267 (NorthernSweden)
T=0.4679/2343 (1000Genomes)
HGVS:: NC_000002.12:g.127560039_127560044del, NC_000002.12:g.127560041_127560044del, NC_000002.12:g.127560042_127560044del, NC_000002.12:g.127560043_127560044del, NC_000002.12:g.127560044del, NC_000002.12:g.127560044dup, NC_000002.12:g.127560043_127560044dup, NC_000002.12:g.127560042_127560044dup, NC_000002.12:g.127560041_127560044dup, NC_000002.12:g.127560040_127560044dup, NC_000002.12:g.127560039_127560044dup, NC_000002.12:g.127560038_127560044dup, NC_000002.12:g.127560035_127560044dup, NC_000002.12:g.127560044_127560045insTTTTTTTTTTTTTTT, NC_000002.11:g.128317614_128317619del, NC_000002.11:g.128317616_128317619del, NC_000002.11:g.128317617_128317619del, NC_000002.11:g.128317618_128317619del, NC_000002.11:g.128317619del, NC_000002.11:g.128317619dup, NC_000002.11:g.128317618_128317619dup, NC_000002.11:g.128317617_128317619dup, NC_000002.11:g.128317616_128317619dup, NC_000002.11:g.128317615_128317619dup, NC_000002.11:g.128317614_128317619dup, NC_000002.11:g.128317613_128317619dup, NC_000002.11:g.128317610_128317619dup, NC_000002.11:g.128317619_128317620insTTTTTTTTTTTTTTT, NG_052848.1:g.29351_29356del, NG_052848.1:g.29353_29356del, NG_052848.1:g.29354_29356del, NG_052848.1:g.29355_29356del, NG_052848.1:g.29356del, NG_052848.1:g.29356dup, NG_052848.1:g.29355_29356dup, NG_052848.1:g.29354_29356dup, NG_052848.1:g.29353_29356dup, NG_052848.1:g.29352_29356dup, NG_052848.1:g.29351_29356dup, NG_052848.1:g.29350_29356dup, NG_052848.1:g.29347_29356dup, NG_052848.1:g.29356_29357insTTTTTTTTTTTTTTT

Select item 14913398916.

rs1491339891 [Homo sapiens]

Variant type:: DEL
Alleles:: GT>- [Show Flanks]
Chromosome:: 2:127617855 (GRCh38)
2:128375430 (GRCh37)
Canonical SPDI:: NC_000002.12:127617854:GT:
Gene:: MYO7B (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000002.12:g.127617855_127617856del, NC_000002.11:g.128375430_128375431del, NG_052848.1:g.87167_87168del

Select item 14913385697.

rs1491338569 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GTTT [Show Flanks]
Chromosome:: 2:127617488 (GRCh38)
2:128375064 (GRCh37)
Canonical SPDI:: NC_000002.12:127617488:TTT:TTTGTTT
Gene:: MYO7B (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TTTGTTT=0./0 (ALFA)
TTTG=0.00017/5 (GnomAD)
HGVS:: NC_000002.12:g.127617491_127617492insGTTT, NC_000002.11:g.128375066_128375067insGTTT, NG_052848.1:g.86803_86804insGTTT

Select item 14913183718.

rs1491318371 has merged into rs35542480 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 2:127617499 (GRCh38)
2:128375074 (GRCh37)
Canonical SPDI:: NC_000002.12:127617487:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000002.12:127617487:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000002.12:127617487:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:127617487:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000002.12:127617487:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:127617487:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:127617487:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:127617487:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000002.12:127617487:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000002.12:127617487:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000002.12:127617487:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000002.12:127617487:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:127617487:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:127617487:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:127617487:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:127617487:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:127617487:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:127617487:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:127617487:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:127617487:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:127617487:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:127617487:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:127617487:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:127617487:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:127617487:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:127617487:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:127617487:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:127617487:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:127617487:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:127617487:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:127617487:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:127617487:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: MYO7B (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
-=0.05/2 (GENOME_DK)
HGVS:: NC_000002.12:g.127617499_127617513del, NC_000002.12:g.127617500_127617513del, NC_000002.12:g.127617501_127617513del, NC_000002.12:g.127617502_127617513del, NC_000002.12:g.127617503_127617513del, NC_000002.12:g.127617504_127617513del, NC_000002.12:g.127617505_127617513del, NC_000002.12:g.127617506_127617513del, NC_000002.12:g.127617507_127617513del, NC_000002.12:g.127617508_127617513del, NC_000002.12:g.127617509_127617513del, NC_000002.12:g.127617510_127617513del, NC_000002.12:g.127617511_127617513del, NC_000002.12:g.127617512_127617513del, NC_000002.12:g.127617513del, NC_000002.12:g.127617513dup, NC_000002.12:g.127617512_127617513dup, NC_000002.12:g.127617511_127617513dup, NC_000002.12:g.127617510_127617513dup, NC_000002.12:g.127617509_127617513dup, NC_000002.12:g.127617508_127617513dup, NC_000002.12:g.127617507_127617513dup, NC_000002.12:g.127617506_127617513dup, NC_000002.12:g.127617505_127617513dup, NC_000002.12:g.127617504_127617513dup, NC_000002.12:g.127617503_127617513dup, NC_000002.12:g.127617502_127617513dup, NC_000002.12:g.127617501_127617513dup, NC_000002.12:g.127617500_127617513dup, NC_000002.12:g.127617499_127617513dup, NC_000002.12:g.127617498_127617513dup, NC_000002.12:g.127617490_127617513dup, NC_000002.11:g.128375074_128375088del, NC_000002.11:g.128375075_128375088del, NC_000002.11:g.128375076_128375088del, NC_000002.11:g.128375077_128375088del, NC_000002.11:g.128375078_128375088del, NC_000002.11:g.128375079_128375088del, NC_000002.11:g.128375080_128375088del, NC_000002.11:g.128375081_128375088del, NC_000002.11:g.128375082_128375088del, NC_000002.11:g.128375083_128375088del, NC_000002.11:g.128375084_128375088del, NC_000002.11:g.128375085_128375088del, NC_000002.11:g.128375086_128375088del, NC_000002.11:g.128375087_128375088del, NC_000002.11:g.128375088del, NC_000002.11:g.128375088dup, NC_000002.11:g.128375087_128375088dup, NC_000002.11:g.128375086_128375088dup, NC_000002.11:g.128375085_128375088dup, NC_000002.11:g.128375084_128375088dup, NC_000002.11:g.128375083_128375088dup, NC_000002.11:g.128375082_128375088dup, NC_000002.11:g.128375081_128375088dup, NC_000002.11:g.128375080_128375088dup, NC_000002.11:g.128375079_128375088dup, NC_000002.11:g.128375078_128375088dup, NC_000002.11:g.128375077_128375088dup, NC_000002.11:g.128375076_128375088dup, NC_000002.11:g.128375075_128375088dup, NC_000002.11:g.128375074_128375088dup, NC_000002.11:g.128375073_128375088dup, NC_000002.11:g.128375065_128375088dup, NG_052848.1:g.86811_86825del, NG_052848.1:g.86812_86825del, NG_052848.1:g.86813_86825del, NG_052848.1:g.86814_86825del, NG_052848.1:g.86815_86825del, NG_052848.1:g.86816_86825del, NG_052848.1:g.86817_86825del, NG_052848.1:g.86818_86825del, NG_052848.1:g.86819_86825del, NG_052848.1:g.86820_86825del, NG_052848.1:g.86821_86825del, NG_052848.1:g.86822_86825del, NG_052848.1:g.86823_86825del, NG_052848.1:g.86824_86825del, NG_052848.1:g.86825del, NG_052848.1:g.86825dup, NG_052848.1:g.86824_86825dup, NG_052848.1:g.86823_86825dup, NG_052848.1:g.86822_86825dup, NG_052848.1:g.86821_86825dup, NG_052848.1:g.86820_86825dup, NG_052848.1:g.86819_86825dup, NG_052848.1:g.86818_86825dup, NG_052848.1:g.86817_86825dup, NG_052848.1:g.86816_86825dup, NG_052848.1:g.86815_86825dup, NG_052848.1:g.86814_86825dup, NG_052848.1:g.86813_86825dup, NG_052848.1:g.86812_86825dup, NG_052848.1:g.86811_86825dup, NG_052848.1:g.86810_86825dup, NG_052848.1:g.86802_86825dup

Select item 14912711169.

rs1491271116 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 2:127632207 (GRCh38)
2:128389782 (GRCh37)
Canonical SPDI:: NC_000002.12:127632206:CT:
Gene:: MYO7B (Varview), LOC101927834 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_downstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000043/1 (ALFA)
-=0.000048/10 (GnomAD_exomes)
-=0.000149/10 (ExAC)
-=0.000155/41 (TOPMED)
-=0.000178/25 (GnomAD)
-=0.00027/3 (GoESP)
HGVS:: NC_000002.12:g.127632207_127632208del, NC_000002.11:g.128389782_128389783del, NG_052848.1:g.101519_101520del

Select item 149124503610.

rs1491245036 [Homo sapiens]

Variant type:: DEL
Alleles:: CG>- [Show Flanks]
Chromosome:: 2:127637302 (GRCh38)
2:128394877 (GRCh37)
Canonical SPDI:: NC_000002.12:127637301:CG:
Gene:: MYO7B (Varview)
Functional Consequence:: frameshift_variant,intron_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: -=0.00002/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.127637302_127637303del, NC_000002.11:g.128394877_128394878del, NG_052848.1:g.106614_106615del, NG_042235.1:g.49484_49485del, XM_047444435.1:c.6782_6783del, XM_047444436.1:c.6773_6774del, XM_047444437.1:c.6725_6726del, XM_047444438.1:c.6608_6609del, XM_047444440.1:c.3254_3255del, XM_047444441.1:c.3197_3198del, XP_047300391.1:p.Pro2261fs, XP_047300392.1:p.Pro2258fs, XP_047300393.1:p.Pro2242fs, XP_047300394.1:p.Pro2203fs, XP_047300396.1:p.Pro1085fs, XP_047300397.1:p.Pro1066fs

Select item 149123434311.

rs1491234343 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CTTT [Show Flanks]
Chromosome:: 2:127560031 (GRCh38)
2:128317607 (GRCh37)
Canonical SPDI:: NC_000002.12:127560031:TTT:TTTCTTT
Gene:: MYO7B (Varview), LOC105373609 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTCTTT=0.00025/3 (ALFA)
TTTC=0.00014/2 (TOMMO)
TTTC=0.00053/14 (GnomAD)
HGVS:: NC_000002.12:g.127560034_127560035insCTTT, NC_000002.11:g.128317609_128317610insCTTT, NG_052848.1:g.29346_29347insCTTT

Select item 149109760712.

rs1491097607 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>-,GG [Show Flanks]
Chromosome:: 2:127616823 (GRCh38)
2:128374398 (GRCh37)
Canonical SPDI:: NC_000002.12:127616822:GGGGGG:GGGGG,NC_000002.12:127616822:GGGGGG:GGGGGGG
Gene:: MYO7B (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGGG=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.127616828del, NC_000002.12:g.127616828dup, NC_000002.11:g.128374403del, NC_000002.11:g.128374403dup, NG_052848.1:g.86140del, NG_052848.1:g.86140dup

Select item 149102764713.

rs1491027647 has merged into rs35578661 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTT>-,T,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 2:127544587 (GRCh38)
2:128302162 (GRCh37)
Canonical SPDI:: NC_000002.12:127544575:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000002.12:127544575:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000002.12:127544575:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:127544575:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:127544575:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:127544575:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000002.12:127544575:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000002.12:127544575:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000002.12:127544575:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:127544575:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:127544575:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:127544575:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:127544575:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:127544575:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:127544575:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:127544575:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:127544575:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: MYO7B (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
-=0.0811/406 (1000Genomes)
HGVS:: NC_000002.12:g.127544587_127544598del, NC_000002.12:g.127544588_127544598del, NC_000002.12:g.127544591_127544598del, NC_000002.12:g.127544592_127544598del, NC_000002.12:g.127544593_127544598del, NC_000002.12:g.127544595_127544598del, NC_000002.12:g.127544596_127544598del, NC_000002.12:g.127544597_127544598del, NC_000002.12:g.127544598del, NC_000002.12:g.127544598dup, NC_000002.12:g.127544597_127544598dup, NC_000002.12:g.127544596_127544598dup, NC_000002.12:g.127544595_127544598dup, NC_000002.12:g.127544594_127544598dup, NC_000002.12:g.127544589_127544598dup, NC_000002.12:g.127544587_127544598dup, NC_000002.12:g.127544585_127544598dup, NC_000002.11:g.128302162_128302173del, NC_000002.11:g.128302163_128302173del, NC_000002.11:g.128302166_128302173del, NC_000002.11:g.128302167_128302173del, NC_000002.11:g.128302168_128302173del, NC_000002.11:g.128302170_128302173del, NC_000002.11:g.128302171_128302173del, NC_000002.11:g.128302172_128302173del, NC_000002.11:g.128302173del, NC_000002.11:g.128302173dup, NC_000002.11:g.128302172_128302173dup, NC_000002.11:g.128302171_128302173dup, NC_000002.11:g.128302170_128302173dup, NC_000002.11:g.128302169_128302173dup, NC_000002.11:g.128302164_128302173dup, NC_000002.11:g.128302162_128302173dup, NC_000002.11:g.128302160_128302173dup, NG_052848.1:g.13899_13910del, NG_052848.1:g.13900_13910del, NG_052848.1:g.13903_13910del, NG_052848.1:g.13904_13910del, NG_052848.1:g.13905_13910del, NG_052848.1:g.13907_13910del, NG_052848.1:g.13908_13910del, NG_052848.1:g.13909_13910del, NG_052848.1:g.13910del, NG_052848.1:g.13910dup, NG_052848.1:g.13909_13910dup, NG_052848.1:g.13908_13910dup, NG_052848.1:g.13907_13910dup, NG_052848.1:g.13906_13910dup, NG_052848.1:g.13901_13910dup, NG_052848.1:g.13899_13910dup, NG_052848.1:g.13897_13910dup

Select item 149100657014.

rs1491006570 has merged into rs35705768 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA,AAAA,AAAAA [Show Flanks]
Chromosome:: 2:127572947 (GRCh38)
2:128330522 (GRCh37)
Canonical SPDI:: NC_000002.12:127572935:AAAAAAAAAAAAA:AAAAAAAAAAA,NC_000002.12:127572935:AAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000002.12:127572935:AAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:127572935:AAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:127572935:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAA
Gene:: MYO7B (Varview), LOC105373609 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
A=0.12542/75 (NorthernSweden)
A=0.19256/714 (TWINSUK)
A=0.19772/762 (ALSPAC)
A=0.3/12 (GENOME_DK)
A=0.30591/1532 (1000Genomes)
HGVS:: NC_000002.12:g.127572947_127572948del, NC_000002.12:g.127572948del, NC_000002.12:g.127572948dup, NC_000002.12:g.127572947_127572948dup, NC_000002.12:g.127572946_127572948dup, NC_000002.11:g.128330522_128330523del, NC_000002.11:g.128330523del, NC_000002.11:g.128330523dup, NC_000002.11:g.128330522_128330523dup, NC_000002.11:g.128330521_128330523dup, NG_052848.1:g.42259_42260del, NG_052848.1:g.42260del, NG_052848.1:g.42260dup, NG_052848.1:g.42259_42260dup, NG_052848.1:g.42258_42260dup

Select item 149098264515.

rs1490982645 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 2:127593708 (GRCh38)
2:128351283 (GRCh37)
Canonical SPDI:: NC_000002.12:127593707:C:A,NC_000002.12:127593707:C:G
Gene:: MYO7B (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.127593708C>A, NC_000002.12:g.127593708C>G, NC_000002.11:g.128351283C>A, NC_000002.11:g.128351283C>G, NG_052848.1:g.63020C>A, NG_052848.1:g.63020C>G

Select item 149093993816.

rs1490939938 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:127578536 (GRCh38)
2:128336111 (GRCh37)
Canonical SPDI:: NC_000002.12:127578535:G:C
Gene:: MYO7B (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000019/5 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000002.12:g.127578536G>C, NC_000002.11:g.128336111G>C, NG_052848.1:g.47848G>C

Select item 149093135417.

rs1490931354 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:127636817 (GRCh38)
2:128394392 (GRCh37)
Canonical SPDI:: NC_000002.12:127636816:C:T
Gene:: MYO7B (Varview)
Functional Consequence:: genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant
HGVS:: NC_000002.12:g.127636817C>T, NC_000002.11:g.128394392C>T, NG_052848.1:g.106129C>T, NM_001080527.2:c.6153C>T, NM_001080527.1:c.6153C>T, NM_001393586.1:c.6231C>T, NM_001393594.1:c.2712C>T, NG_042235.1:g.49970G>A, XM_011511218.3:c.6240C>T, XM_011511218.2:c.6240C>T, XM_011511218.1:c.6240C>T, XM_017004169.2:c.6297C>T, XM_017004169.1:c.6297C>T, XM_047444435.1:c.6297C>T, XM_047444436.1:c.6288C>T, XM_047444437.1:c.6240C>T, XM_047444438.1:c.6123C>T, XM_047444440.1:c.2769C>T, XM_047444441.1:c.2712C>T, NM_183371.1:c.2712C>T

Select item 149081286618.

rs1490812866 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:127547927 (GRCh38)
2:128305502 (GRCh37)
Canonical SPDI:: NC_000002.12:127547926:T:C
Gene:: MYO7B (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000002.12:g.127547927T>C, NC_000002.11:g.128305502T>C, NG_052848.1:g.17239T>C

Select item 149077792619.

rs1490777926 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 2:127617501 (GRCh38)
2:128375076 (GRCh37)
Canonical SPDI:: NC_000002.12:127617500:T:G
Gene:: MYO7B (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/1 (GnomAD)
G=0.003436/10 (KOREAN)
HGVS:: NC_000002.12:g.127617501T>G, NC_000002.11:g.128375076T>G, NG_052848.1:g.86813T>G

Select item 149071350820.

rs1490713508 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 2:127600093 (GRCh38)
2:128357668 (GRCh37)
Canonical SPDI:: NC_000002.12:127600092:T:G
Gene:: MYO7B (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000002.12:g.127600093T>G, NC_000002.11:g.128357668T>G, NG_052848.1:g.69405T>G

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