SNP Links for Gene (Select 25854) - SNP

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Select item 14915825141.

rs1491582514 [Homo sapiens]

Variant type:: INS
Alleles:: ->C,CTC,CTCTGTC,CTCTGTCTC,CTGTCTC [Show Flanks]
Chromosome:: 4:186150414 (GRCh38)
4:187071569 (GRCh37)
Canonical SPDI:: NC_000004.12:186150414::C,NC_000004.12:186150414::CTC,NC_000004.12:186150414::CTCTGTC,NC_000004.12:186150414::CTCTGTCTC,NC_000004.12:186150414::CTGTCTC
Gene:: FAM149A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CTCTGTC=0./0 (ALFA)
CTCTGTC=0.00004/3 (GnomAD)
C=0.00038/5 (TOMMO)
HGVS:: NC_000004.12:g.186150414_186150415insC, NC_000004.12:g.186150414_186150415insCTC, NC_000004.12:g.186150414_186150415insCTCTGTC, NC_000004.12:g.186150414_186150415insCTCTGTCTC, NC_000004.12:g.186150414_186150415insCTGTCTC, NC_000004.11:g.187071568_187071569insC, NC_000004.11:g.187071568_187071569insCTC, NC_000004.11:g.187071568_187071569insCTCTGTC, NC_000004.11:g.187071568_187071569insCTCTGTCTC, NC_000004.11:g.187071568_187071569insCTGTCTC

Select item 14915689482.

rs1491568948 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 4:186136975 (GRCh38)
4:187058130 (GRCh37)
Canonical SPDI:: NC_000004.12:186136975::C
Gene:: FAM149A (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: C=0.00337/56 (TOMMO)
C=0.01513/811 (GnomAD)
HGVS:: NC_000004.12:g.186136975_186136976insC, NC_000004.11:g.187058129_187058130insC

Select item 14915488723.

rs1491548872 has merged into rs75671150 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA [Show Flanks]
Chromosome:: 4:186103915 (GRCh38)
4:187025069 (GRCh37)
Canonical SPDI:: NC_000004.12:186103913:AAA:A,NC_000004.12:186103913:AAA:AA,NC_000004.12:186103913:AAA:AAAA
Gene:: FAM149A (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAA=0.00012/2 (ALFA)
-=0.32064/320 (GoNL)
HGVS:: NC_000004.12:g.186103915_186103916del, NC_000004.12:g.186103916del, NC_000004.12:g.186103916dup, NC_000004.11:g.187025069_187025070del, NC_000004.11:g.187025070del, NC_000004.11:g.187025070dup

Select item 14915304434.

rs1491530443 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 4:186121095 (GRCh38)
4:187042249 (GRCh37)
Canonical SPDI:: NC_000004.12:186121092:CTCT:CT
Gene:: FAM149A (Varview), LOC124900171 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CTCT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.186121093CT[1], NC_000004.11:g.187042247CT[1]

Select item 14915259585.

rs1491525958 [Homo sapiens]

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

Select item 14915151266.

rs1491515126 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 4:186150391 (GRCh38)
4:187071545 (GRCh37)
Canonical SPDI:: NC_000004.12:186150390:TG:
Gene:: FAM149A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.05142/610 (ALFA)
-=0.00296/262 (GnomAD)
-=0.00442/8 (Korea1K)
-=0.01337/221 (TOMMO)
HGVS:: NC_000004.12:g.186150391_186150392del, NC_000004.11:g.187071545_187071546del

Select item 14914892107.

rs1491489210 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 4:186143149 (GRCh38)
4:187064303 (GRCh37)
Canonical SPDI:: NC_000004.12:186143148:CT:
Gene:: FAM149A (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000004.12:g.186143149_186143150del, NC_000004.11:g.187064303_187064304del

Select item 14914764588.

rs1491476458 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CT [Show Flanks]
Chromosome:: 4:186109312 (GRCh38)
4:187030467 (GRCh37)
Canonical SPDI:: NC_000004.12:186109312:T:TCT
Gene:: FAM149A (Varview), LOC124900171 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCT=0.000071/1 (ALFA)
TC=0.000144/38 (TOPMED)
TC=0.00026/19 (GnomAD)
HGVS:: NC_000004.12:g.186109313_186109314insCT, NC_000004.11:g.187030467_187030468insCT

Select item 14914756629.

rs1491475662 [Homo sapiens]

Variant type:: DEL
Alleles:: CC>- [Show Flanks]
Chromosome:: 4:186160780 (GRCh38)
4:187081934 (GRCh37)
Canonical SPDI:: NC_000004.12:186160779:CC:
Gene:: FAM149A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.00003/2 (GnomAD)
HGVS:: NC_000004.12:g.186160780_186160781del, NC_000004.11:g.187081934_187081935del

Select item 149142018110.

rs1491420181 has merged into rs150724097 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTCTCTCTCT>-,CT,CTCT,CTCTCT,CTCTCTCT,CTCTCTCTCTCT,CTCTCTCTCTCTCT,CTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT [Show Flanks]
Chromosome:: 4:186130285 (GRCh38)
4:187051439 (GRCh37)
Canonical SPDI:: NC_000004.12:186130263:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCT,NC_000004.12:186130263:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCT,NC_000004.12:186130263:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCT,NC_000004.12:186130263:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000004.12:186130263:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000004.12:186130263:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000004.12:186130263:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000004.12:186130263:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000004.12:186130263:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000004.12:186130263:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000004.12:186130263:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000004.12:186130263:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000004.12:186130263:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000004.12:186130263:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000004.12:186130263:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000004.12:186130263:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000004.12:186130263:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000004.12:186130263:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000004.12:186130263:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000004.12:186130263:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000004.12:186130263:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000004.12:186130263:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000004.12:186130263:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000004.12:186130263:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT
Gene:: FAM149A (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCTCTCTCTCTCTCTCTCTCTCT=0./0 (ALFA)
TCTCTCTC=0.4/16 (GENOME_DK)
HGVS:: NC_000004.12:g.186130265CT[10], NC_000004.12:g.186130265CT[11], NC_000004.12:g.186130265CT[12], NC_000004.12:g.186130265CT[13], NC_000004.12:g.186130265CT[14], NC_000004.12:g.186130265CT[16], NC_000004.12:g.186130265CT[17], NC_000004.12:g.186130265CT[18], NC_000004.12:g.186130265CT[19], NC_000004.12:g.186130265CT[20], NC_000004.12:g.186130265CT[21], NC_000004.12:g.186130265CT[22], NC_000004.12:g.186130265CT[23], NC_000004.12:g.186130265CT[24], NC_000004.12:g.186130265CT[25], NC_000004.12:g.186130265CT[26], NC_000004.12:g.186130265CT[27], NC_000004.12:g.186130265CT[28], NC_000004.12:g.186130265CT[29], NC_000004.12:g.186130265CT[30], NC_000004.12:g.186130265CT[31], NC_000004.12:g.186130265CT[32], NC_000004.12:g.186130265CT[33], NC_000004.12:g.186130265CT[34], NC_000004.11:g.187051419CT[10], NC_000004.11:g.187051419CT[11], NC_000004.11:g.187051419CT[12], NC_000004.11:g.187051419CT[13], NC_000004.11:g.187051419CT[14], NC_000004.11:g.187051419CT[16], NC_000004.11:g.187051419CT[17], NC_000004.11:g.187051419CT[18], NC_000004.11:g.187051419CT[19], NC_000004.11:g.187051419CT[20], NC_000004.11:g.187051419CT[21], NC_000004.11:g.187051419CT[22], NC_000004.11:g.187051419CT[23], NC_000004.11:g.187051419CT[24], NC_000004.11:g.187051419CT[25], NC_000004.11:g.187051419CT[26], NC_000004.11:g.187051419CT[27], NC_000004.11:g.187051419CT[28], NC_000004.11:g.187051419CT[29], NC_000004.11:g.187051419CT[30], NC_000004.11:g.187051419CT[31], NC_000004.11:g.187051419CT[32], NC_000004.11:g.187051419CT[33], NC_000004.11:g.187051419CT[34]

Select item 149141471811.

rs1491414718 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 4:186160154 (GRCh38)
4:187081308 (GRCh37)
Canonical SPDI:: NC_000004.12:186160153:TA:
Gene:: FAM149A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000038/5 (GnomAD)
HGVS:: NC_000004.12:g.186160154_186160155del, NC_000004.11:g.187081308_187081309del

Select item 149141046612.

rs1491410466 has merged into rs141403092 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTTTT>-,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 4:186143158 (GRCh38)
4:187064312 (GRCh37)
Canonical SPDI:: NC_000004.12:186143149:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000004.12:186143149:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000004.12:186143149:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000004.12:186143149:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000004.12:186143149:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000004.12:186143149:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000004.12:186143149:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000004.12:186143149:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000004.12:186143149:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000004.12:186143149:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000004.12:186143149:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000004.12:186143149:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:186143149:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:186143149:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:186143149:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:186143149:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:186143149:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:186143149:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:186143149:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:186143149:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:186143149:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:186143149:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:186143149:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:186143149:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:186143149:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:186143149:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:186143149:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:186143149:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:186143149:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: FAM149A (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTT=0./0 (ALFA)
TTTTTTTTTTT=0./0 (GENOME_DK)
-=0.1801/694 (ALSPAC)
HGVS:: NC_000004.12:g.186143158_186143174del, NC_000004.12:g.186143162_186143174del, NC_000004.12:g.186143163_186143174del, NC_000004.12:g.186143164_186143174del, NC_000004.12:g.186143165_186143174del, NC_000004.12:g.186143166_186143174del, NC_000004.12:g.186143167_186143174del, NC_000004.12:g.186143168_186143174del, NC_000004.12:g.186143169_186143174del, NC_000004.12:g.186143170_186143174del, NC_000004.12:g.186143171_186143174del, NC_000004.12:g.186143172_186143174del, NC_000004.12:g.186143173_186143174del, NC_000004.12:g.186143174del, NC_000004.12:g.186143174dup, NC_000004.12:g.186143173_186143174dup, NC_000004.12:g.186143172_186143174dup, NC_000004.12:g.186143171_186143174dup, NC_000004.12:g.186143170_186143174dup, NC_000004.12:g.186143169_186143174dup, NC_000004.12:g.186143168_186143174dup, NC_000004.12:g.186143167_186143174dup, NC_000004.12:g.186143166_186143174dup, NC_000004.12:g.186143163_186143174dup, NC_000004.12:g.186143158_186143174dup, NC_000004.12:g.186143174_186143175insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000004.12:g.186143174_186143175insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000004.12:g.186143174_186143175insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000004.12:g.186143174_186143175insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000004.11:g.187064312_187064328del, NC_000004.11:g.187064316_187064328del, NC_000004.11:g.187064317_187064328del, NC_000004.11:g.187064318_187064328del, NC_000004.11:g.187064319_187064328del, NC_000004.11:g.187064320_187064328del, NC_000004.11:g.187064321_187064328del, NC_000004.11:g.187064322_187064328del, NC_000004.11:g.187064323_187064328del, NC_000004.11:g.187064324_187064328del, NC_000004.11:g.187064325_187064328del, NC_000004.11:g.187064326_187064328del, NC_000004.11:g.187064327_187064328del, NC_000004.11:g.187064328del, NC_000004.11:g.187064328dup, NC_000004.11:g.187064327_187064328dup, NC_000004.11:g.187064326_187064328dup, NC_000004.11:g.187064325_187064328dup, NC_000004.11:g.187064324_187064328dup, NC_000004.11:g.187064323_187064328dup, NC_000004.11:g.187064322_187064328dup, NC_000004.11:g.187064321_187064328dup, NC_000004.11:g.187064320_187064328dup, NC_000004.11:g.187064317_187064328dup, NC_000004.11:g.187064312_187064328dup, NC_000004.11:g.187064328_187064329insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000004.11:g.187064328_187064329insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000004.11:g.187064328_187064329insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000004.11:g.187064328_187064329insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 149140876013.

rs1491408760 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 4:186129197 (GRCh38)
4:187050351 (GRCh37)
Canonical SPDI:: NC_000004.12:186129196:AT:
Gene:: FAM149A (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000008/2 (TOPMED)
-=0.000029/4 (GnomAD)
HGVS:: NC_000004.12:g.186129197_186129198del, NC_000004.11:g.187050351_187050352del

Select item 149132812814.

rs1491328128 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CCTCTCTCTC [Show Flanks]
Chromosome:: 4:186130264 (GRCh38)
4:187051419 (GRCh37)
Canonical SPDI:: NC_000004.12:186130264:CTCTCTCTC:CTCTCTCTCCCTCTCTCTC
Gene:: FAM149A (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: CTCTCTCTCCCTCTCTCTC=0.00008/1 (ALFA)
CTCTCTCTCC=0.001/8 (GnomAD)
HGVS:: NC_000004.12:g.186130265_186130273CT[4]CCCTCTCTCTC[1], NC_000004.11:g.187051419_187051427CT[4]CCCTCTCTCTC[1]

Select item 149132170515.

rs1491321705 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 4:186154968 (GRCh38)
4:187076123 (GRCh37)
Canonical SPDI:: NC_000004.12:186154968::A
Gene:: FAM149A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.00003/1 (GnomAD)
HGVS:: NC_000004.12:g.186154968_186154969insA, NC_000004.11:g.187076122_187076123insA

Select item 149126912016.

rs1491269120 has merged into rs55700071 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 4:186167525 (GRCh38)
4:187088679 (GRCh37)
Canonical SPDI:: NC_000004.12:186167511:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000004.12:186167511:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000004.12:186167511:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000004.12:186167511:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000004.12:186167511:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000004.12:186167511:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000004.12:186167511:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000004.12:186167511:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000004.12:186167511:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:186167511:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:186167511:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: FAM149A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAA=0./0 (ALFA)
AA=0.2332/1168 (1000Genomes)
HGVS:: NC_000004.12:g.186167525_186167532del, NC_000004.12:g.186167526_186167532del, NC_000004.12:g.186167527_186167532del, NC_000004.12:g.186167528_186167532del, NC_000004.12:g.186167529_186167532del, NC_000004.12:g.186167530_186167532del, NC_000004.12:g.186167531_186167532del, NC_000004.12:g.186167532del, NC_000004.12:g.186167532dup, NC_000004.12:g.186167531_186167532dup, NC_000004.12:g.186167527_186167532dup, NC_000004.11:g.187088679_187088686del, NC_000004.11:g.187088680_187088686del, NC_000004.11:g.187088681_187088686del, NC_000004.11:g.187088682_187088686del, NC_000004.11:g.187088683_187088686del, NC_000004.11:g.187088684_187088686del, NC_000004.11:g.187088685_187088686del, NC_000004.11:g.187088686del, NC_000004.11:g.187088686dup, NC_000004.11:g.187088685_187088686dup, NC_000004.11:g.187088681_187088686dup

Select item 149125494517.

rs1491254945 has merged into rs60560568 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT,TTTTT,TTTTTT [Show Flanks]
Chromosome:: 4:186109321 (GRCh38)
4:187030475 (GRCh37)
Canonical SPDI:: NC_000004.12:186109311:TTTTTTTTTTT:TTTTTTTTT,NC_000004.12:186109311:TTTTTTTTTTT:TTTTTTTTTT,NC_000004.12:186109311:TTTTTTTTTTT:TTTTTTTTTTTT,NC_000004.12:186109311:TTTTTTTTTTT:TTTTTTTTTTTTT,NC_000004.12:186109311:TTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000004.12:186109311:TTTTTTTTTTT:TTTTTTTTTTTTTTT
Gene:: FAM149A (Varview), LOC124900171 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
-=0.233333/140 (NorthernSweden)
-=0.247505/65512 (TOPMED)
-=0.282348/1414 (1000Genomes)
-=0.3/12 (GENOME_DK)
HGVS:: NC_000004.12:g.186109321_186109322del, NC_000004.12:g.186109322del, NC_000004.12:g.186109322dup, NC_000004.12:g.186109321_186109322dup, NC_000004.12:g.186109320_186109322dup, NC_000004.12:g.186109319_186109322dup, NC_000004.11:g.187030475_187030476del, NC_000004.11:g.187030476del, NC_000004.11:g.187030476dup, NC_000004.11:g.187030475_187030476dup, NC_000004.11:g.187030474_187030476dup, NC_000004.11:g.187030473_187030476dup

Select item 149120249818.

rs1491202498 [Homo sapiens]

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

Select item 149117483519.

rs1491174835 has merged into rs70964919 [Homo sapiens]

Variant type:: DELINS
Alleles:: TGTGTGTGTGTGTGTGTGTGTGTG>-,TGTG,TGTGTG,TGTGTGTG,TGTGTGTGTG,TGTGTGTGTGTG,TGTGTGTGTGTGTG,TGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG [Show Flanks]
Chromosome:: 4:186149009 (GRCh38)
4:187070163 (GRCh37)
Canonical SPDI:: NC_000004.12:186148999:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTG,NC_000004.12:186148999:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTG,NC_000004.12:186148999:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTG,NC_000004.12:186148999:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTG,NC_000004.12:186148999:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTG,NC_000004.12:186148999:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTG,NC_000004.12:186148999:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTG,NC_000004.12:186148999:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTG,NC_000004.12:186148999:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000004.12:186148999:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000004.12:186148999:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000004.12:186148999:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000004.12:186148999:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000004.12:186148999:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000004.12:186148999:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000004.12:186148999:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000004.12:186148999:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000004.12:186148999:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG
Gene:: FAM149A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGTGTGTGTGTG=0./0 (ALFA)
HGVS:: NC_000004.12:g.186149001TG[4], NC_000004.12:g.186149001TG[6], NC_000004.12:g.186149001TG[7], NC_000004.12:g.186149001TG[8], NC_000004.12:g.186149001TG[9], NC_000004.12:g.186149001TG[10], NC_000004.12:g.186149001TG[11], NC_000004.12:g.186149001TG[12], NC_000004.12:g.186149001TG[13], NC_000004.12:g.186149001TG[14], NC_000004.12:g.186149001TG[15], NC_000004.12:g.186149001TG[17], NC_000004.12:g.186149001TG[18], NC_000004.12:g.186149001TG[19], NC_000004.12:g.186149001TG[20], NC_000004.12:g.186149001TG[21], NC_000004.12:g.186149001TG[22], NC_000004.12:g.186149001TG[26], NC_000004.11:g.187070155TG[4], NC_000004.11:g.187070155TG[6], NC_000004.11:g.187070155TG[7], NC_000004.11:g.187070155TG[8], NC_000004.11:g.187070155TG[9], NC_000004.11:g.187070155TG[10], NC_000004.11:g.187070155TG[11], NC_000004.11:g.187070155TG[12], NC_000004.11:g.187070155TG[13], NC_000004.11:g.187070155TG[14], NC_000004.11:g.187070155TG[15], NC_000004.11:g.187070155TG[17], NC_000004.11:g.187070155TG[18], NC_000004.11:g.187070155TG[19], NC_000004.11:g.187070155TG[20], NC_000004.11:g.187070155TG[21], NC_000004.11:g.187070155TG[22], NC_000004.11:g.187070155TG[26], NG_083571.1:g.382TG[4], NG_083571.1:g.382TG[6], NG_083571.1:g.382TG[7], NG_083571.1:g.382TG[8], NG_083571.1:g.382TG[9], NG_083571.1:g.382TG[10], NG_083571.1:g.382TG[11], NG_083571.1:g.382TG[12], NG_083571.1:g.382TG[13], NG_083571.1:g.382TG[14], NG_083571.1:g.382TG[15], NG_083571.1:g.382TG[17], NG_083571.1:g.382TG[18], NG_083571.1:g.382TG[19], NG_083571.1:g.382TG[20], NG_083571.1:g.382TG[21], NG_083571.1:g.382TG[22], NG_083571.1:g.382TG[26]

Select item 149114411720.

rs1491144117 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AC [Show Flanks]
Chromosome:: 4:186160154 (GRCh38)
4:187081309 (GRCh37)
Canonical SPDI:: NC_000004.12:186160154:ACAC:ACACAC
Gene:: FAM149A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACAC=0./0 (ALFA)
AC=0.00015/11 (GnomAD)
AC=0.00078/5 (1000Genomes)
AC=0.00198/33 (TOMMO)
HGVS:: NC_000004.12:g.186160155AC[3], NC_000004.11:g.187081309AC[3]

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