SNP Links for Gene (Select 105371046) - SNP

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Select item 14915090281.

rs1491509028 has merged into rs965825314 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA [Show Flanks]
Chromosome:: 16:1601275 (GRCh38)
16:1651276 (GRCh37)
Canonical SPDI:: NC_000016.10:1601263:AAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000016.10:1601263:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000016.10:1601263:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000016.10:1601263:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000016.10:1601263:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000016.10:1601263:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000016.10:1601263:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000016.10:1601263:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000016.10:1601263:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA
Gene:: IFT140 (Varview), LOC105371046 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAAAA=0./0 (ALFA)
-=0.001307/346 (TOPMED)
HGVS:: NC_000016.10:g.1601275_1601279del, NC_000016.10:g.1601276_1601279del, NC_000016.10:g.1601277_1601279del, NC_000016.10:g.1601278_1601279del, NC_000016.10:g.1601279del, NC_000016.10:g.1601279dup, NC_000016.10:g.1601278_1601279dup, NC_000016.10:g.1601277_1601279dup, NC_000016.10:g.1601275_1601279dup, NC_000016.9:g.1651276_1651280del, NC_000016.9:g.1651277_1651280del, NC_000016.9:g.1651278_1651280del, NC_000016.9:g.1651279_1651280del, NC_000016.9:g.1651280del, NC_000016.9:g.1651280dup, NC_000016.9:g.1651279_1651280dup, NC_000016.9:g.1651278_1651280dup, NC_000016.9:g.1651276_1651280dup, NG_032783.1:g.15841_15845del, NG_032783.1:g.15842_15845del, NG_032783.1:g.15843_15845del, NG_032783.1:g.15844_15845del, NG_032783.1:g.15845del, NG_032783.1:g.15845dup, NG_032783.1:g.15844_15845dup, NG_032783.1:g.15843_15845dup, NG_032783.1:g.15841_15845dup

Select item 14912835482.

rs1491283548 [Homo sapiens]

Variant type:: DEL
Alleles:: GG>- [Show Flanks]
Chromosome:: 16:1604317 (GRCh38)
16:1654318 (GRCh37)
Canonical SPDI:: NC_000016.10:1604316:GG:
Gene:: IFT140 (Varview), LOC105371046 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000107/3 (TOMMO)
-=0.000209/24 (GnomAD)
HGVS:: NC_000016.10:g.1604317_1604318del, NC_000016.9:g.1654318_1654319del, NG_032783.1:g.12791_12792del

Select item 14911741673.

rs1491174167 has merged into rs34665250 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAA>-,A,AA,AAAA,AAAAA [Show Flanks]
Chromosome:: 16:1600475 (GRCh38)
16:1650476 (GRCh37)
Canonical SPDI:: NC_000016.10:1600463:AAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000016.10:1600463:AAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000016.10:1600463:AAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000016.10:1600463:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000016.10:1600463:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA
Gene:: IFT140 (Varview), LOC105371046 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
-=0.369/1848 (1000Genomes)
HGVS:: NC_000016.10:g.1600475_1600477del, NC_000016.10:g.1600476_1600477del, NC_000016.10:g.1600477del, NC_000016.10:g.1600477dup, NC_000016.10:g.1600476_1600477dup, NC_000016.9:g.1650476_1650478del, NC_000016.9:g.1650477_1650478del, NC_000016.9:g.1650478del, NC_000016.9:g.1650478dup, NC_000016.9:g.1650477_1650478dup, NG_032783.1:g.16643_16645del, NG_032783.1:g.16644_16645del, NG_032783.1:g.16645del, NG_032783.1:g.16645dup, NG_032783.1:g.16644_16645dup

Select item 14911640524.

rs1491164052 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 16:1590200 (GRCh38)
16:1640201 (GRCh37)
Canonical SPDI:: NC_000016.10:1590199:CA:
Gene:: IFT140 (Varview), LOC105371046 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.00169/20 (ALFA)
HGVS:: NC_000016.10:g.1590200_1590201del, NC_000016.9:g.1640201_1640202del, NG_032783.1:g.26908_26909del

Select item 14910783165.

rs1491078316 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 16:1600477 (GRCh38)
16:1650478 (GRCh37)
Canonical SPDI:: NC_000016.10:1600476:AT:
Gene:: IFT140 (Varview), LOC105371046 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.1600477_1600478del, NC_000016.9:g.1650478_1650479del, NG_032783.1:g.16631_16632del

Select item 14909964466.

rs1490996446 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:1594565 (GRCh38)
16:1644566 (GRCh37)
Canonical SPDI:: NC_000016.10:1594564:G:A
Gene:: IFT140 (Varview), LOC105371046 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000019/5 (TOPMED)
A=0.000035/1 (TOMMO)
HGVS:: NC_000016.10:g.1594565G>A, NC_000016.9:g.1644566G>A, NG_032783.1:g.22544C>T

Select item 14909578717.

rs1490957871 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:1582701 (GRCh38)
16:1632702 (GRCh37)
Canonical SPDI:: NC_000016.10:1582700:C:T
Gene:: IFT140 (Varview), LOC105371046 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.1582701C>T, NC_000016.9:g.1632702C>T, NG_032783.1:g.34408G>A

Select item 14909401388.

rs1490940138 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:1595230 (GRCh38)
16:1645231 (GRCh37)
Canonical SPDI:: NC_000016.10:1595229:A:G
Gene:: IFT140 (Varview), LOC105371046 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.1595230A>G, NC_000016.9:g.1645231A>G, NG_032783.1:g.21879T>C

Select item 14908864139.

rs1490886413 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:1606141 (GRCh38)
16:1656142 (GRCh37)
Canonical SPDI:: NC_000016.10:1606140:C:T
Gene:: IFT140 (Varview), LOC105371046 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.1606141C>T, NC_000016.9:g.1656142C>T, NG_032783.1:g.10968G>A

Select item 149085612010.

rs1490856120 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 16:1606869 (GRCh38)
16:1656870 (GRCh37)
Canonical SPDI:: NC_000016.10:1606868:C:G,NC_000016.10:1606868:C:T
Gene:: IFT140 (Varview), LOC105371046 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000016.10:g.1606869C>G, NC_000016.10:g.1606869C>T, NC_000016.9:g.1656870C>G, NC_000016.9:g.1656870C>T, NG_032783.1:g.10240G>C, NG_032783.1:g.10240G>A

Select item 149080157811.

rs1490801578 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:1599370 (GRCh38)
16:1649371 (GRCh37)
Canonical SPDI:: NC_000016.10:1599369:G:A
Gene:: IFT140 (Varview), LOC105371046 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.02546/302 (ALFA)
A=0.0005/8 (TOMMO)
A=0.05065/132 (KOREAN)
G=0.45/9 (SGDP_PRJ)
HGVS:: NC_000016.10:g.1599370G>A, NC_000016.9:g.1649371G>A, NG_032783.1:g.17739C>T

Select item 149077518012.

rs1490775180 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 16:1599428 (GRCh38)
16:1649429 (GRCh37)
Canonical SPDI:: NC_000016.10:1599427:T:C,NC_000016.10:1599427:T:G
Gene:: IFT140 (Varview), LOC105371046 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.00019/3 (TOMMO)
G=0.00127/2 (Korea1K)
G=0.01437/35 (KOREAN)
T=0.5/1 (SGDP_PRJ)
HGVS:: NC_000016.10:g.1599428T>C, NC_000016.10:g.1599428T>G, NC_000016.9:g.1649429T>C, NC_000016.9:g.1649429T>G, NG_032783.1:g.17681A>G, NG_032783.1:g.17681A>C

Select item 149073820613.

rs1490738206 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 16:1581887 (GRCh38)
16:1631888 (GRCh37)
Canonical SPDI:: NC_000016.10:1581886:G:C
Gene:: IFT140 (Varview), LOC105371046 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000016.10:g.1581887G>C, NC_000016.9:g.1631888G>C, NG_032783.1:g.35222C>G

Select item 149066313614.

rs1490663136 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 16:1600065 (GRCh38)
16:1650066 (GRCh37)
Canonical SPDI:: NC_000016.10:1600064:G:C
Gene:: IFT140 (Varview), LOC105371046 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0.00025/3 (ALFA)
HGVS:: NC_000016.10:g.1600065G>C, NC_000016.9:g.1650066G>C, NG_032783.1:g.17044C>G

Select item 149061292115.

rs1490612921 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 16:1599040 (GRCh38)
16:1649041 (GRCh37)
Canonical SPDI:: NC_000016.10:1599039:G:A,NC_000016.10:1599039:G:C,NC_000016.10:1599039:G:T
Gene:: IFT140 (Varview), LOC105371046 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000555/9 (ALFA)
A=0.000036/1 (TOMMO)
C=0.001667/1 (NorthernSweden)
C=0.002811/18 (1000Genomes)
C=0.003194/320 (GnomAD)
HGVS:: NC_000016.10:g.1599040G>A, NC_000016.10:g.1599040G>C, NC_000016.10:g.1599040G>T, NC_000016.9:g.1649041G>A, NC_000016.9:g.1649041G>C, NC_000016.9:g.1649041G>T, NG_032783.1:g.18069C>T, NG_032783.1:g.18069C>G, NG_032783.1:g.18069C>A

Select item 149057663016.

rs1490576630 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 16:1607213 (GRCh38)
16:1657214 (GRCh37)
Canonical SPDI:: NC_000016.10:1607212:G:A,NC_000016.10:1607212:G:C
Gene:: IFT140 (Varview), LOC105371046 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,genic_upstream_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.1607213G>A, NC_000016.10:g.1607213G>C, NC_000016.9:g.1657214G>A, NC_000016.9:g.1657214G>C, NG_032783.1:g.9896C>T, NG_032783.1:g.9896C>G, NM_014714.4:c.54C>T, NM_014714.4:c.54C>G, NM_014714.3:c.54C>T, NM_014714.3:c.54C>G, XM_005255725.6:c.54C>T, XM_005255725.6:c.54C>G, XM_005255725.5:c.54C>T, XM_005255725.5:c.54C>G, XM_005255725.4:c.54C>T, XM_005255725.4:c.54C>G, XM_005255725.3:c.54C>T, XM_005255725.3:c.54C>G, XM_005255725.2:c.54C>T, XM_005255725.2:c.54C>G, XM_005255725.1:c.54C>T, XM_005255725.1:c.54C>G, XM_005255726.5:c.54C>T, XM_005255726.5:c.54C>G, XM_005255726.4:c.54C>T, XM_005255726.4:c.54C>G, XM_005255726.3:c.54C>T, XM_005255726.3:c.54C>G, XM_005255726.2:c.54C>T, XM_005255726.2:c.54C>G, XM_005255726.1:c.54C>T, XM_005255726.1:c.54C>G, XM_011522772.4:c.54C>T, XM_011522772.4:c.54C>G, XM_011522772.3:c.54C>T, XM_011522772.3:c.54C>G, XM_011522772.2:c.54C>T, XM_011522772.2:c.54C>G, XM_011522772.1:c.54C>T, XM_011522772.1:c.54C>G, XM_006720991.4:c.54C>T, XM_006720991.4:c.54C>G, XM_006720991.3:c.54C>T, XM_006720991.3:c.54C>G, XM_006720991.2:c.54C>T, XM_006720991.2:c.54C>G, XM_006720991.1:c.54C>T, XM_006720991.1:c.54C>G, XM_006720990.4:c.54C>T, XM_006720990.4:c.54C>G, XM_006720990.3:c.54C>T, XM_006720990.3:c.54C>G, XM_006720990.2:c.54C>T, XM_006720990.2:c.54C>G, XM_006720990.1:c.54C>T, XM_006720990.1:c.54C>G, XM_011522771.4:c.54C>T, XM_011522771.4:c.54C>G, XM_011522771.3:c.54C>T, XM_011522771.3:c.54C>G, XM_011522771.2:c.54C>T, XM_011522771.2:c.54C>G, XM_011522771.1:c.54C>T, XM_011522771.1:c.54C>G, XM_011522769.4:c.54C>T, XM_011522769.4:c.54C>G, XM_011522769.3:c.54C>T, XM_011522769.3:c.54C>G, XM_011522769.2:c.54C>T, XM_011522769.2:c.54C>G, XM_011522769.1:c.54C>T, XM_011522769.1:c.54C>G, XM_047434976.1:c.54C>T, XM_047434976.1:c.54C>G, XM_047434968.1:c.54C>T, XM_047434968.1:c.54C>G, XM_047434967.1:c.54C>T, XM_047434967.1:c.54C>G, XM_047434972.1:c.54C>T, XM_047434972.1:c.54C>G, XM_047434966.1:c.54C>T, XM_047434966.1:c.54C>G, XM_047434969.1:c.54C>T, XM_047434969.1:c.54C>G, XM_047434970.1:c.54C>T, XM_047434970.1:c.54C>G, XM_047434965.1:c.54C>T, XM_047434965.1:c.54C>G, XM_047434974.1:c.54C>T, XM_047434974.1:c.54C>G, XM_047434977.1:c.54C>T, XM_047434977.1:c.54C>G, XM_047434973.1:c.54C>T, XM_047434973.1:c.54C>G, XM_047434975.1:c.54C>T, XM_047434975.1:c.54C>G, XM_047434978.1:c.54C>T, XM_047434978.1:c.54C>G, XM_047434980.1:c.54C>T, XM_047434980.1:c.54C>G, XM_047434979.1:c.54C>T, XM_047434979.1:c.54C>G

Select item 149047604517.

rs1490476045 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 16:1588569 (GRCh38)
16:1638570 (GRCh37)
Canonical SPDI:: NC_000016.10:1588568:A:C
Gene:: IFT140 (Varview), LOC105371046 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0.000084/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.1588569A>C, NC_000016.9:g.1638570A>C, NG_032783.1:g.28540T>G

Select item 149037990318.

rs1490379903 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 16:1600055 (GRCh38)
16:1650056 (GRCh37)
Canonical SPDI:: NC_000016.10:1600054:T:C,NC_000016.10:1600054:T:G
Gene:: IFT140 (Varview), LOC105371046 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.1600055T>C, NC_000016.10:g.1600055T>G, NC_000016.9:g.1650056T>C, NC_000016.9:g.1650056T>G, NG_032783.1:g.17054A>G, NG_032783.1:g.17054A>C

Select item 149011433819.

rs1490114338 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 16:1583994 (GRCh38)
16:1633996 (GRCh37)
Canonical SPDI:: NC_000016.10:1583994:AAA:AAAA
Gene:: IFT140 (Varview), LOC105371046 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: AAAA=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.1583997dup, NC_000016.9:g.1633998dup, NG_032783.1:g.33114dup

Select item 149006542420.

rs1490065424 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:1595478 (GRCh38)
16:1645479 (GRCh37)
Canonical SPDI:: NC_000016.10:1595477:G:A
Gene:: IFT140 (Varview), LOC105371046 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_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_000016.10:g.1595478G>A, NC_000016.9:g.1645479G>A, NG_032783.1:g.21631C>T

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