SNP Links for Gene (Select 11193) - SNP

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Select item 14915487131.

rs1491548713 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 13:41062127 (GRCh38)
13:41636264 (GRCh37)
Canonical SPDI:: NC_000013.11:41062127:GG:GGG
Gene:: ELF1 (Varview), WBP4 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGG=0.00017/2 (ALFA)
G=0.00036/10 (GnomAD)
HGVS:: NC_000013.11:g.41062129dup, NC_000013.10:g.41636265dup, XM_005266245.3:c.-17dup, XM_005266245.2:c.-17dup, XM_005266245.1:c.-17dup

Select item 14915473952.

rs1491547395 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CTTTTT [Show Flanks]
Chromosome:: 13:41061097 (GRCh38)
13:41635234 (GRCh37)
Canonical SPDI:: NC_000013.11:41061097:TCTTTTT:TCTTTTTCTTTTT
Gene:: ELF1 (Varview), WBP4 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCTTTTTCTTTTT=0./0 (ALFA)
TCTTTT=0.000004/1 (TOPMED)
TCTTTT=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.41061099_41061104dup, NC_000013.10:g.41635235_41635240dup, XM_047430118.1:c.-699_-694dup, NM_001370329.1:c.-790_-785dup, NM_001370330.1:c.-494_-489dup

Select item 14915271883.

rs1491527188 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 13:41076269 (GRCh38)
13:41650405 (GRCh37)
Canonical SPDI:: NC_000013.11:41076268:AT:
Gene:: WBP4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000041/5 (GnomAD)
-=0.000249/4 (TOMMO)
-=0.000536/31 (GnomAD_exomes)
HGVS:: NC_000013.11:g.41076269_41076270del, NC_000013.10:g.41650405_41650406del

Select item 14915150394.

rs1491515039 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 13:41065289 (GRCh38)
13:41639425 (GRCh37)
Canonical SPDI:: NC_000013.11:41065288:TA:
Gene:: WBP4 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,splice_donor_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.00064/6 (ExAC)
HGVS:: NC_000013.11:g.41065289_41065290del, NC_000013.10:g.41639425_41639426del

Select item 14914945155.

rs1491494515 [Homo sapiens]

Variant type:: INS
Alleles:: ->AA [Show Flanks]
Chromosome:: 13:41076270 (GRCh38)
13:41650407 (GRCh37)
Canonical SPDI:: NC_000013.11:41076270::AA
Gene:: WBP4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AA=0./0 (ALFA)
AA=0.000004/1 (TOPMED)
HGVS:: NC_000013.11:g.41076270_41076271insAA, NC_000013.10:g.41650406_41650407insAA

Select item 14914392346.

rs1491439234 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 13:41062097 (GRCh38)
13:41636234 (GRCh37)
Canonical SPDI:: NC_000013.11:41062097::G
Gene:: ELF1 (Varview), WBP4 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000013.11:g.41062097_41062098insG, NC_000013.10:g.41636233_41636234insG

Select item 14913524487.

rs1491352448 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 13:41072045 (GRCh38)
13:41646181 (GRCh37)
Canonical SPDI:: NC_000013.11:41072044:CA:
Gene:: WBP4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00025/3 (ALFA)
HGVS:: NC_000013.11:g.41072045_41072046del, NC_000013.10:g.41646181_41646182del

Select item 14913345318.

rs1491334531 [Homo sapiens]

Variant type:: DEL
Alleles:: CG>- [Show Flanks]
Chromosome:: 13:41062127 (GRCh38)
13:41636263 (GRCh37)
Canonical SPDI:: NC_000013.11:41062126:CG:
Gene:: ELF1 (Varview), WBP4 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: -=0.0007/3 (ALFA)
HGVS:: NC_000013.11:g.41062127_41062128del, NC_000013.10:g.41636263_41636264del, XM_005266245.3:c.-19_-18del, XM_005266245.2:c.-19_-18del, XM_005266245.1:c.-19_-18del

Select item 14912650049.

rs1491265004 has merged into rs60658317 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 13:41062108 (GRCh38)
13:41636244 (GRCh37)
Canonical SPDI:: NC_000013.11:41062096:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000013.11:41062096:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000013.11:41062096:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000013.11:41062096:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000013.11:41062096:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000013.11:41062096:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000013.11:41062096:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000013.11:41062096:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000013.11:41062096:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000013.11:41062096:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000013.11:41062096:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:41062096:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:41062096:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:41062096:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:41062096:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:41062096:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:41062096:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:41062096:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:41062096:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:41062096:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:41062096:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:41062096:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:41062096:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:41062096:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:41062096:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:41062096:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: ELF1 (Varview), WBP4 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
-=0.000015/4 (TOPMED)
HGVS:: NC_000013.11:g.41062108_41062124del, NC_000013.11:g.41062110_41062124del, NC_000013.11:g.41062111_41062124del, NC_000013.11:g.41062112_41062124del, NC_000013.11:g.41062113_41062124del, NC_000013.11:g.41062114_41062124del, NC_000013.11:g.41062115_41062124del, NC_000013.11:g.41062116_41062124del, NC_000013.11:g.41062117_41062124del, NC_000013.11:g.41062118_41062124del, NC_000013.11:g.41062119_41062124del, NC_000013.11:g.41062120_41062124del, NC_000013.11:g.41062121_41062124del, NC_000013.11:g.41062122_41062124del, NC_000013.11:g.41062123_41062124del, NC_000013.11:g.41062124del, NC_000013.11:g.41062124dup, NC_000013.11:g.41062123_41062124dup, NC_000013.11:g.41062122_41062124dup, NC_000013.11:g.41062121_41062124dup, NC_000013.11:g.41062120_41062124dup, NC_000013.11:g.41062119_41062124dup, NC_000013.11:g.41062118_41062124dup, NC_000013.11:g.41062117_41062124dup, NC_000013.11:g.41062116_41062124dup, NC_000013.11:g.41062114_41062124dup, NC_000013.10:g.41636244_41636260del, NC_000013.10:g.41636246_41636260del, NC_000013.10:g.41636247_41636260del, NC_000013.10:g.41636248_41636260del, NC_000013.10:g.41636249_41636260del, NC_000013.10:g.41636250_41636260del, NC_000013.10:g.41636251_41636260del, NC_000013.10:g.41636252_41636260del, NC_000013.10:g.41636253_41636260del, NC_000013.10:g.41636254_41636260del, NC_000013.10:g.41636255_41636260del, NC_000013.10:g.41636256_41636260del, NC_000013.10:g.41636257_41636260del, NC_000013.10:g.41636258_41636260del, NC_000013.10:g.41636259_41636260del, NC_000013.10:g.41636260del, NC_000013.10:g.41636260dup, NC_000013.10:g.41636259_41636260dup, NC_000013.10:g.41636258_41636260dup, NC_000013.10:g.41636257_41636260dup, NC_000013.10:g.41636256_41636260dup, NC_000013.10:g.41636255_41636260dup, NC_000013.10:g.41636254_41636260dup, NC_000013.10:g.41636253_41636260dup, NC_000013.10:g.41636252_41636260dup, NC_000013.10:g.41636250_41636260dup

Select item 149126337710.

rs1491263377 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 13:41061099 (GRCh38)
13:41635235 (GRCh37)
Canonical SPDI:: NC_000013.11:41061096:CTCT:CT
Gene:: ELF1 (Varview), WBP4 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CTCT=0./0 (ALFA)
-=0.000014/2 (GnomAD)
-=0.000026/7 (TOPMED)
HGVS:: NC_000013.11:g.41061097CT[1], NC_000013.10:g.41635233CT[1], XM_047430118.1:c.-696AG[1], NM_001370329.1:c.-787AG[1], NM_001370330.1:c.-491AG[1]

Select item 149118033111.

rs1491180331 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CTGTTAGGTATGTTGTT [Show Flanks]
Chromosome:: 13:41063194 (GRCh38)
13:41637331 (GRCh37)
Canonical SPDI:: NC_000013.11:41063194:TCTGTTAGGTATGTTGTT:TCTGTTAGGTATGTTGTTCTGTTAGGTATGTTGTT
Gene:: ELF1 (Varview), WBP4 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCTGTTAGGTATGTTGTTCTGTTAGGTATGTTGTT=0./0 (ALFA)
TCTGTTAGGTATGTTGT=0.000004/1 (TOPMED)
TCTGTTAGGTATGTTGT=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.41063196_41063212dup, NC_000013.10:g.41637332_41637348dup

Select item 149093166712.

rs1490931667 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 13:41061002 (GRCh38)
13:41635138 (GRCh37)
Canonical SPDI:: NC_000013.11:41061001:C:T
Gene:: ELF1 (Varview), WBP4 (Varview)
Functional Consequence:: genic_upstream_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=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.41061002C>T, NC_000013.10:g.41635138C>T, XM_047430118.1:c.-598G>A, NM_001370329.1:c.-689G>A, NM_001370330.1:c.-393G>A

Select item 149091415213.

rs1490914152 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 13:41074563 (GRCh38)
13:41648699 (GRCh37)
Canonical SPDI:: NC_000013.11:41074562:G:C
Gene:: WBP4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000013.11:g.41074563G>C, NC_000013.10:g.41648699G>C

Select item 149089912014.

rs1490899120 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 13:41073702 (GRCh38)
13:41647838 (GRCh37)
Canonical SPDI:: NC_000013.11:41073701:G:A
Gene:: WBP4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.41073702G>A, NC_000013.10:g.41647838G>A

Select item 149080999215.

rs1490809992 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 13:41067040 (GRCh38)
13:41641176 (GRCh37)
Canonical SPDI:: NC_000013.11:41067039:G:T
Gene:: WBP4 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.41067040G>T, NC_000013.10:g.41641176G>T

Select item 149058020216.

rs1490580202 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 13:41065811 (GRCh38)
13:41639947 (GRCh37)
Canonical SPDI:: NC_000013.11:41065810:G:T
Gene:: WBP4 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.00005/7 (GnomAD)
T=0.000091/24 (TOPMED)
HGVS:: NC_000013.11:g.41065811G>T, NC_000013.10:g.41639947G>T

Select item 149055440817.

rs1490554408 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 13:41063584 (GRCh38)
13:41637720 (GRCh37)
Canonical SPDI:: NC_000013.11:41063583:C:G
Gene:: WBP4 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000013.11:g.41063584C>G, NC_000013.10:g.41637720C>G

Select item 149053359518.

rs1490533595 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTTAA>- [Show Flanks]
Chromosome:: 13:41066019 (GRCh38)
13:41640155 (GRCh37)
Canonical SPDI:: NC_000013.11:41066012:AGTTAAGTTAA:AGTTAA
Gene:: WBP4 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGTTAA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.41066014GTTAA[1], NC_000013.10:g.41640150GTTAA[1]

Select item 149049703119.

rs1490497031 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 13:41060795 (GRCh38)
13:41634931 (GRCh37)
Canonical SPDI:: NC_000013.11:41060794:C:A
Gene:: ELF1 (Varview), WBP4 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,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_000013.11:g.41060795C>A, NC_000013.10:g.41634931C>A

Select item 149040749620.

rs1490407496 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 13:41073349 (GRCh38)
13:41647485 (GRCh37)
Canonical SPDI:: NC_000013.11:41073348:T:
Gene:: WBP4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000013.11:g.41073349del, NC_000013.10:g.41647485del

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