SNP Links for Gene (Select 100289495) - SNP

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Items: 1 to 20 of 2678

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Select item 14915598911.

rs1491559891 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 6:166346172 (GRCh38)
6:166759661 (GRCh37)
Canonical SPDI:: NC_000006.12:166346172:TTT:TTTT
Gene:: LOC100289495 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TTTT=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.166346175dup, NC_000006.11:g.166759663dup

Select item 14915143302.

rs1491514330 [Homo sapiens]

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

Select item 14912794533.

rs1491279453 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 6:166341826 (GRCh38)
6:166755315 (GRCh37)
Canonical SPDI:: NC_000006.12:166341826::A
Gene:: SFT2D1 (Varview), LOC100289495 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.00018/3 (ALFA)
A=0.00068/3 (Estonian)
HGVS:: NC_000006.12:g.166341826_166341827insA, NC_000006.11:g.166755314_166755315insA

Select item 14911051034.

rs1491105103 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 6:166346172 (GRCh38)
6:166759660 (GRCh37)
Canonical SPDI:: NC_000006.12:166346171:CT:
Gene:: LOC100289495 (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_000006.12:g.166346172_166346173del, NC_000006.11:g.166759660_166759661del

Select item 14906896495.

rs1490689649 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:166349666 (GRCh38)
6:166763154 (GRCh37)
Canonical SPDI:: NC_000006.12:166349665:A:G
Gene:: LOC100289495 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.166349666A>G, NC_000006.11:g.166763154A>G, NR_040022.1:n.2105A>G

Select item 14901291796.

rs1490129179 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 6:166343859 (GRCh38)
6:166757347 (GRCh37)
Canonical SPDI:: NC_000006.12:166343858:C:A
Gene:: SFT2D1 (Varview), LOC100289495 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_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_000006.12:g.166343859C>A, NC_000006.11:g.166757347C>A

Select item 14900781257.

rs1490078125 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:166344655 (GRCh38)
6:166758143 (GRCh37)
Canonical SPDI:: NC_000006.12:166344654:C:T
Gene:: LOC100289495 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000006.12:g.166344655C>T, NC_000006.11:g.166758143C>T

Select item 14898730928.

rs1489873092 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:166350912 (GRCh38)
6:166764400 (GRCh37)
Canonical SPDI:: NC_000006.12:166350911:C:T
Gene:: LOC100289495 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.166350912C>T, NC_000006.11:g.166764400C>T, NR_040022.1:n.3351C>T

Select item 14892337399.

rs1489233739 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:166349946 (GRCh38)
6:166763434 (GRCh37)
Canonical SPDI:: NC_000006.12:166349945:G:A
Gene:: LOC100289495 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
A=0.000035/1 (TOMMO)
HGVS:: NC_000006.12:g.166349946G>A, NC_000006.11:g.166763434G>A, NR_040022.1:n.2385G>A

Select item 148916260510.

rs1489162605 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 6:166351149 (GRCh38)
6:166764637 (GRCh37)
Canonical SPDI:: NC_000006.12:166351148:G:
Gene:: LOC100289495 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000011/3 (TOPMED)
HGVS:: NC_000006.12:g.166351149del, NC_000006.11:g.166764637del, NR_040022.1:n.3588del

Select item 148898356011.

rs1488983560 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 6:166345358 (GRCh38)
6:166758846 (GRCh37)
Canonical SPDI:: NC_000006.12:166345354:AGAGA:AGA
Gene:: LOC100289495 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGA=0./0 (ALFA)
-=0.000011/3 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.166345356GA[1], NC_000006.11:g.166758844GA[1]

Select item 148893518612.

rs1488935186 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 6:166349469 (GRCh38)
6:166762957 (GRCh37)
Canonical SPDI:: NC_000006.12:166349468:A:C,NC_000006.12:166349468:A:G
Gene:: LOC100289495 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
G=0.000035/1 (TOMMO)
HGVS:: NC_000006.12:g.166349469A>C, NC_000006.12:g.166349469A>G, NC_000006.11:g.166762957A>C, NC_000006.11:g.166762957A>G, NR_040022.1:n.1908A>C, NR_040022.1:n.1908A>G

Select item 148886542813.

rs1488865428 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 6:166342520 (GRCh38)
6:166756008 (GRCh37)
Canonical SPDI:: NC_000006.12:166342519:C:A,NC_000006.12:166342519:C:T
Gene:: SFT2D1 (Varview), LOC100289495 (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.166342520C>A, NC_000006.12:g.166342520C>T, NC_000006.11:g.166756008C>A, NC_000006.11:g.166756008C>T, NM_145169.3:c.-39G>T, NM_145169.3:c.-39G>A, NM_145169.2:c.-39G>T, NM_145169.2:c.-39G>A, NR_130112.2:n.26G>T, NR_130112.2:n.26G>A, NR_130112.1:n.87G>T, NR_130112.1:n.87G>A, NR_130113.2:n.26G>T, NR_130113.2:n.26G>A, NR_130113.1:n.87G>T, NR_130113.1:n.87G>A, NR_130114.2:n.26G>T, NR_130114.2:n.26G>A, NR_130114.1:n.87G>T, NR_130114.1:n.87G>A

Select item 148875483614.

rs1488754836 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:166345831 (GRCh38)
6:166759319 (GRCh37)
Canonical SPDI:: NC_000006.12:166345830:T:C
Gene:: LOC100289495 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000019/5 (TOPMED)
HGVS:: NC_000006.12:g.166345831T>C, NC_000006.11:g.166759319T>C

Select item 148821504615.

rs1488215046 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 6:166341584 (GRCh38)
6:166755072 (GRCh37)
Canonical SPDI:: NC_000006.12:166341583:A:C
Gene:: SFT2D1 (Varview), LOC100289495 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000026/7 (TOPMED)
C=0.000318/5 (TOMMO)
C=0.000546/1 (Korea1K)
C=0.002053/6 (KOREAN)
HGVS:: NC_000006.12:g.166341584A>C, NC_000006.11:g.166755072A>C

Select item 148813885216.

rs1488138852 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:166342320 (GRCh38)
6:166755808 (GRCh37)
Canonical SPDI:: NC_000006.12:166342319:A:G
Gene:: SFT2D1 (Varview), LOC100289495 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.166342320A>G, NC_000006.11:g.166755808A>G

Select item 148784196217.

rs1487841962 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:166346400 (GRCh38)
6:166759888 (GRCh37)
Canonical SPDI:: NC_000006.12:166346399:C:T
Gene:: LOC100289495 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.166346400C>T, NC_000006.11:g.166759888C>T

Select item 148742486918.

rs1487424869 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 6:166341404 (GRCh38)
6:166754892 (GRCh37)
Canonical SPDI:: NC_000006.12:166341403:A:C
Gene:: SFT2D1 (Varview), LOC100289495 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0.000084/1 (ALFA)
C=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.166341404A>C, NC_000006.11:g.166754892A>C

Select item 148720163219.

rs1487201632 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 6:166350092 (GRCh38)
6:166763580 (GRCh37)
Canonical SPDI:: NC_000006.12:166350091:G:C
Gene:: LOC100289495 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.166350092G>C, NC_000006.11:g.166763580G>C, NR_040022.1:n.2531G>C

Select item 148711860420.

rs1487118604 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 6:166345501 (GRCh38)
6:166758989 (GRCh37)
Canonical SPDI:: NC_000006.12:166345500:T:C,NC_000006.12:166345500:T:G
Gene:: LOC100289495 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.166345501T>C, NC_000006.12:g.166345501T>G, NC_000006.11:g.166758989T>C, NC_000006.11:g.166758989T>G

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