SNP Links for Gene (Select 105371130) - SNP

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Select item 14915372931.

rs1491537293 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 16:22396067 (GRCh38)
16:22407388 (GRCh37)
Canonical SPDI:: NC_000016.10:22396064:CTCT:CT
Gene:: MFSD13B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CTCT=0.000184/3 (ALFA)
-=0.000008/2 (TOPMED)
-=0.000036/5 (GnomAD)
HGVS:: NC_000016.10:g.22396065CT[1], NC_000016.9:g.22407386CT[1], NW_017852933.1:g.708971AG[1]

Select item 14915311272.

rs1491531127 has merged into rs768389839 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAA>-,A,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 16:22385122 (GRCh38)
16:22396443 (GRCh37)
Canonical SPDI:: NC_000016.10:22385112:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000016.10:22385112:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000016.10:22385112:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000016.10:22385112:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000016.10:22385112:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000016.10:22385112:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000016.10:22385112:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000016.10:22385112:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000016.10:22385112:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000016.10:22385112:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000016.10:22385112:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000016.10:22385112:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000016.10:22385112:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:22385112:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:22385112:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:22385112:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:22385112:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:22385112:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:22385112:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:22385112:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:22385112:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:22385112:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:22385112:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: MFSD13B (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
-=0.275/11 (GENOME_DK)
HGVS:: NC_000016.10:g.22385122_22385134del, NC_000016.10:g.22385123_22385134del, NC_000016.10:g.22385125_22385134del, NC_000016.10:g.22385126_22385134del, NC_000016.10:g.22385127_22385134del, NC_000016.10:g.22385128_22385134del, NC_000016.10:g.22385129_22385134del, NC_000016.10:g.22385130_22385134del, NC_000016.10:g.22385131_22385134del, NC_000016.10:g.22385132_22385134del, NC_000016.10:g.22385133_22385134del, NC_000016.10:g.22385134del, NC_000016.10:g.22385134dup, NC_000016.10:g.22385133_22385134dup, NC_000016.10:g.22385132_22385134dup, NC_000016.10:g.22385131_22385134dup, NC_000016.10:g.22385130_22385134dup, NC_000016.10:g.22385129_22385134dup, NC_000016.10:g.22385128_22385134dup, NC_000016.10:g.22385127_22385134dup, NC_000016.10:g.22385124_22385134dup, NC_000016.10:g.22385134_22385135insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000016.10:g.22385134_22385135insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000016.9:g.22396443_22396455del, NC_000016.9:g.22396444_22396455del, NC_000016.9:g.22396446_22396455del, NC_000016.9:g.22396447_22396455del, NC_000016.9:g.22396448_22396455del, NC_000016.9:g.22396449_22396455del, NC_000016.9:g.22396450_22396455del, NC_000016.9:g.22396451_22396455del, NC_000016.9:g.22396452_22396455del, NC_000016.9:g.22396453_22396455del, NC_000016.9:g.22396454_22396455del, NC_000016.9:g.22396455del, NC_000016.9:g.22396455dup, NC_000016.9:g.22396454_22396455dup, NC_000016.9:g.22396453_22396455dup, NC_000016.9:g.22396452_22396455dup, NC_000016.9:g.22396451_22396455dup, NC_000016.9:g.22396450_22396455dup, NC_000016.9:g.22396449_22396455dup, NC_000016.9:g.22396448_22396455dup, NC_000016.9:g.22396445_22396455dup, NC_000016.9:g.22396455_22396456insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000016.9:g.22396455_22396456insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NW_017852933.1:g.719914_719926del, NW_017852933.1:g.719915_719926del, NW_017852933.1:g.719917_719926del, NW_017852933.1:g.719918_719926del, NW_017852933.1:g.719919_719926del, NW_017852933.1:g.719920_719926del, NW_017852933.1:g.719921_719926del, NW_017852933.1:g.719922_719926del, NW_017852933.1:g.719923_719926del, NW_017852933.1:g.719924_719926del, NW_017852933.1:g.719925_719926del, NW_017852933.1:g.719926del, NW_017852933.1:g.719926dup, NW_017852933.1:g.719925_719926dup, NW_017852933.1:g.719924_719926dup, NW_017852933.1:g.719923_719926dup, NW_017852933.1:g.719922_719926dup, NW_017852933.1:g.719921_719926dup, NW_017852933.1:g.719920_719926dup, NW_017852933.1:g.719919_719926dup, NW_017852933.1:g.719916_719926dup, NW_017852933.1:g.719926_719927insTTTTTTTTTTTTTTTTTTTTTTTTT, NW_017852933.1:g.719926_719927insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14914792273.

rs1491479227 has merged into rs1228915014 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T [Show Flanks]
Chromosome:: 16:22396096 (GRCh38)
16:22407417 (GRCh37)
Canonical SPDI:: NC_000016.10:22396094:TTT:T,NC_000016.10:22396094:TTT:TT
Gene:: MFSD13B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
-=0.000015/4 (TOPMED)
HGVS:: NC_000016.10:g.22396096_22396097del, NC_000016.10:g.22396097del, NC_000016.9:g.22407417_22407418del, NC_000016.9:g.22407418del, NW_017852933.1:g.708943_708944del, NW_017852933.1:g.708944del

Select item 14913201884.

rs1491320188 has merged into rs1031766193 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>-,CTCT [Show Flanks]
Chromosome:: 16:22396105 (GRCh38)
16:22407426 (GRCh37)
Canonical SPDI:: NC_000016.10:22396103:TCT:T,NC_000016.10:22396103:TCT:TCTCT
Gene:: MFSD13B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCTCT=0./0 (ALFA)
-=0.0004/106 (TOPMED)
HGVS:: NC_000016.10:g.22396105_22396106del, NC_000016.10:g.22396105_22396106dup, NC_000016.9:g.22407426_22407427del, NC_000016.9:g.22407426_22407427dup, NW_017852933.1:g.708934_708935del, NW_017852933.1:g.708934_708935dup

Select item 14912403585.

rs1491240358 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CCTTTTCT,CTTCT [Show Flanks]
Chromosome:: 16:22396119 (GRCh38)
16:22407441 (GRCh37)
Canonical SPDI:: NC_000016.10:22396119:T:TCCTTTTCT,NC_000016.10:22396119:T:TCTTCT
Gene:: MFSD13B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TCTTCT=0./0 (ALFA)
TCCTTTTC=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.22396120_22396121insCCTTTTCT, NC_000016.10:g.22396120_22396121insCTTCT, NC_000016.9:g.22407441_22407442insCCTTTTCT, NC_000016.9:g.22407441_22407442insCTTCT, NW_017852933.1:g.708919_708920insGAAAAGGA, NW_017852933.1:g.708919_708920insGAAGA

Select item 14912072966.

rs1491207296 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>- [Show Flanks]
Chromosome:: 16:22396221 (GRCh38)
16:22407542 (GRCh37)
Canonical SPDI:: NC_000016.10:22396217:TTTTT:TTT
Gene:: MFSD13B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTT=0.004637/55 (ALFA)
-=0.005263/716 (GnomAD)
-=0.007027/35 (1000Genomes)
HGVS:: NC_000016.10:g.22396221_22396222del, NC_000016.9:g.22407542_22407543del, NW_017852933.1:g.708820_708821del

Select item 14912050377.

rs1491205037 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 16:22385113 (GRCh38)
16:22396435 (GRCh37)
Canonical SPDI:: NC_000016.10:22385113::G
Gene:: MFSD13B (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000016.10:g.22385113_22385114insG, NC_000016.9:g.22396434_22396435insG, NW_017852933.1:g.719925_719926insC

Select item 14911960318.

rs1491196031 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTT>-,CTTCTT [Show Flanks]
Chromosome:: 16:22396079 (GRCh38)
16:22407400 (GRCh37)
Canonical SPDI:: NC_000016.10:22396076:TTCTT:TT,NC_000016.10:22396076:TTCTT:TTCTTCTT
Gene:: MFSD13B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTCTTCTT=0./0 (ALFA)
TTC=0.00011/2 (TOMMO)
HGVS:: NC_000016.10:g.22396079_22396081del, NC_000016.10:g.22396079_22396081dup, NC_000016.9:g.22407400_22407402del, NC_000016.9:g.22407400_22407402dup, NW_017852933.1:g.708960_708962del, NW_017852933.1:g.708960_708962dup

Select item 14911882029.

rs1491188202 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTT>-,CTTCTT [Show Flanks]
Chromosome:: 16:22396098 (GRCh38)
16:22407419 (GRCh37)
Canonical SPDI:: NC_000016.10:22396095:TTCTT:TT,NC_000016.10:22396095:TTCTT:TTCTTCTT
Gene:: MFSD13B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTCTTCTT=0.00012/2 (ALFA)
HGVS:: NC_000016.10:g.22396098_22396100del, NC_000016.10:g.22396098_22396100dup, NC_000016.9:g.22407419_22407421del, NC_000016.9:g.22407419_22407421dup, NW_017852933.1:g.708941_708943del, NW_017852933.1:g.708941_708943dup

Select item 149116813810.

rs1491168138 has merged into rs751627655 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTCTTCTTTCTTTCTTTC>-,TTTCTTCTTTCTTTCTTTCTTTCTTCTTTCTTTCTTTC [Show Flanks]
Chromosome:: 16:22396099 (GRCh38)
16:22407420 (GRCh37)
Canonical SPDI:: NC_000016.10:22396065:TCTTTCTTTCTTTCTTTCTTCTTTCTTTCTTTCTTTCTTCTTTCTTTCTTTC:TCTTTCTTTCTTTCTTTCTTCTTTCTTTCTTTC,NC_000016.10:22396065:TCTTTCTTTCTTTCTTTCTTCTTTCTTTCTTTCTTTCTTCTTTCTTTCTTTC:TCTTTCTTTCTTTCTTTCTTCTTTCTTTCTTTCTTTCTTCTTTCTTTCTTTCTTTCTTCTTTCTTTCTTTC
Gene:: MFSD13B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCTTTCTTTCTTTCTTTCTTCTTTCTTTCTTTCTTTCTTCTTTCTTTCTTTCTTTCTTCTTTCTTTCTTTC=0./0 (ALFA)
-=0.05423/209 (ALSPAC)
-=0.05448/202 (TWINSUK)
-=0.11333/68 (NorthernSweden)
HGVS:: NC_000016.10:g.22396080TTTCTTCTTTCTTTCTTTC[1], NC_000016.10:g.22396080TTTCTTCTTTCTTTCTTTC[3], NC_000016.9:g.22407401TTTCTTCTTTCTTTCTTTC[1], NC_000016.9:g.22407401TTTCTTCTTTCTTTCTTTC[3], NW_017852933.1:g.708936AGAAAGAAAGAAAGAAAGA[1], NW_017852933.1:g.708936AGAAAGAAAGAAAGAAAGA[3]

Select item 149114816911.

rs1491148169 has merged into rs1459210541 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTTTTT [Show Flanks]
Chromosome:: 16:22396077 (GRCh38)
16:22407398 (GRCh37)
Canonical SPDI:: NC_000016.10:22396075:TTT:T,NC_000016.10:22396075:TTT:TT,NC_000016.10:22396075:TTT:TTTTTTT
Gene:: MFSD13B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000199/25 (GnomAD)
HGVS:: NC_000016.10:g.22396077_22396078del, NC_000016.10:g.22396078del, NC_000016.10:g.22396078_22396079insTTTT, NC_000016.9:g.22407398_22407399del, NC_000016.9:g.22407399del, NC_000016.9:g.22407399_22407400insTTTT, NW_017852933.1:g.708962_708963del, NW_017852933.1:g.708963del, NW_017852933.1:g.708963_708964insAAAA

Select item 149114023212.

rs1491140232 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>- [Show Flanks]
Chromosome:: 16:22396121 (GRCh38)
16:22407442 (GRCh37)
Canonical SPDI:: NC_000016.10:22396118:TTTT:TT
Gene:: MFSD13B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000009/1 (GnomAD)
HGVS:: NC_000016.10:g.22396121_22396122del, NC_000016.9:g.22407442_22407443del, NW_017852933.1:g.708919_708920del

Select item 149108362413.

rs1491083624 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CTTTCTT [Show Flanks]
Chromosome:: 16:22396087 (GRCh38)
16:22407409 (GRCh37)
Canonical SPDI:: NC_000016.10:22396087:TTCTTTCTT:TTCTTTCTTCTTTCTT
Gene:: MFSD13B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TTCTTTCTTCTTTCTT=0./0 (ALFA)
HGVS:: NC_000016.10:g.22396090_22396096dup, NC_000016.9:g.22407411_22407417dup, NW_017852933.1:g.708945_708951dup

Select item 149104936514.

rs1491049365 has merged into rs35753718 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAA>-,A,AA,AAAA,AAAAA,AAAAAA,AAAAAAA [Show Flanks]
Chromosome:: 16:22397376 (GRCh38)
16:22408697 (GRCh37)
Canonical SPDI:: NC_000016.10:22397363:AAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000016.10:22397363:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000016.10:22397363:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000016.10:22397363:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000016.10:22397363:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000016.10:22397363:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000016.10:22397363:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA
Gene:: MFSD13B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAAA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.35/14 (GENOME_DK)
HGVS:: NC_000016.10:g.22397376_22397378del, NC_000016.10:g.22397377_22397378del, NC_000016.10:g.22397378del, NC_000016.10:g.22397378dup, NC_000016.10:g.22397377_22397378dup, NC_000016.10:g.22397376_22397378dup, NC_000016.10:g.22397375_22397378dup, NC_000016.9:g.22408697_22408699del, NC_000016.9:g.22408698_22408699del, NC_000016.9:g.22408699del, NC_000016.9:g.22408699dup, NC_000016.9:g.22408698_22408699dup, NC_000016.9:g.22408697_22408699dup, NC_000016.9:g.22408696_22408699dup, NW_017852933.1:g.707673_707675del, NW_017852933.1:g.707674_707675del, NW_017852933.1:g.707675del, NW_017852933.1:g.707675dup, NW_017852933.1:g.707674_707675dup, NW_017852933.1:g.707673_707675dup, NW_017852933.1:g.707672_707675dup

Select item 149104308815.

rs1491043088 has merged into rs778550415 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>- [Show Flanks]
Chromosome:: 16:22396107 (GRCh38)
16:22407428 (GRCh37)
Canonical SPDI:: NC_000016.10:22396105:TTT:T
Gene:: MFSD13B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
-=0.000015/2 (GnomAD)
-=0.000094/25 (TOPMED)
HGVS:: NC_000016.10:g.22396107_22396108del, NC_000016.9:g.22407428_22407429del, NW_017852933.1:g.708932_708933del

Select item 149080511116.

rs1490805111 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C,G [Show Flanks]
Chromosome:: 16:22405359 (GRCh38)
16:22416680 (GRCh37)
Canonical SPDI:: NC_000016.10:22405358:T:A,NC_000016.10:22405358:T:C,NC_000016.10:22405358:T:G
Gene:: MFSD13B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.22405359T>A, NC_000016.10:g.22405359T>C, NC_000016.10:g.22405359T>G, NC_000016.9:g.22416680T>A, NC_000016.9:g.22416680T>C, NC_000016.9:g.22416680T>G, NW_017852933.1:g.699680A>T, NW_017852933.1:g.699680A>G, NW_017852933.1:g.699680A>C

Select item 149068010417.

rs1490680104 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 16:22389009 (GRCh38)
16:22400330 (GRCh37)
Canonical SPDI:: NC_000016.10:22389008:C:A
Gene:: MFSD13B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.00004/1 (TOMMO)
HGVS:: NC_000016.10:g.22389009C>A, NC_000016.9:g.22400330C>A, NW_017852933.1:g.716030G>T

Select item 149039586918.

rs1490395869 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 16:22396686 (GRCh38)
16:22408007 (GRCh37)
Canonical SPDI:: NC_000016.10:22396685:G:A,NC_000016.10:22396685:G:C
Gene:: MFSD13B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000014/2 (GnomAD)
G=0.5/1 (SGDP_PRJ)
HGVS:: NC_000016.10:g.22396686G>A, NC_000016.10:g.22396686G>C, NC_000016.9:g.22408007G>A, NC_000016.9:g.22408007G>C, NW_017852933.1:g.708353C>T, NW_017852933.1:g.708353C>G

Select item 149033386919.

rs1490333869 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:22400896 (GRCh38)
16:22412217 (GRCh37)
Canonical SPDI:: NC_000016.10:22400895:C:T
Gene:: MFSD13B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000019/5 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000016.10:g.22400896C>T, NC_000016.9:g.22412217C>T, NW_017852933.1:g.704143G>A

Select item 149033379320.

rs1490333793 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:22403511 (GRCh38)
16:22414832 (GRCh37)
Canonical SPDI:: NC_000016.10:22403510:T:C
Gene:: MFSD13B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.22403511T>C, NC_000016.9:g.22414832T>C, NW_017852933.1:g.701528A>G

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