SNP Links for Gene (Select 4804) - SNP

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Select item 14915823621.

rs1491582362 [Homo sapiens]

Variant type:: INS
Alleles:: ->TC,TCCTTC,TCCTTCCTTC,TCCTTCCTTCCTTC [Show Flanks]
Chromosome:: 17:49502871 (GRCh38)
17:47580234 (GRCh37)
Canonical SPDI:: NC_000017.11:49502871::TC,NC_000017.11:49502871::TCCTTC,NC_000017.11:49502871::TCCTTCCTTC,NC_000017.11:49502871::TCCTTCCTTCCTTC
Gene:: NGFR (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: TC=0.0004/7 (TOMMO)
TCCTTC=0.00167/1 (NorthernSweden)
HGVS:: NC_000017.11:g.49502871_49502872insTC, NC_000017.11:g.49502871_49502872insTCCTTC, NC_000017.11:g.49502871_49502872insTCCTTCCTTC, NC_000017.11:g.49502871_49502872insTCCTTCCTTCCTTC, NC_000017.10:g.47580233_47580234insTC, NC_000017.10:g.47580233_47580234insTCCTTC, NC_000017.10:g.47580233_47580234insTCCTTCCTTC, NC_000017.10:g.47580233_47580234insTCCTTCCTTCCTTC

Select item 14915509392.

rs1491550939 has merged into rs67010321 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTT>-,TTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 17:49504778 (GRCh38)
17:47582140 (GRCh37)
Canonical SPDI:: NC_000017.11:49504769:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000017.11:49504769:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000017.11:49504769:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000017.11:49504769:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000017.11:49504769:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000017.11:49504769:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000017.11:49504769:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000017.11:49504769:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000017.11:49504769:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000017.11:49504769:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000017.11:49504769:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:49504769:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:49504769:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:49504769:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:49504769:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:49504769:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:49504769:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:49504769:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:49504769:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:49504769:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:49504769:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:49504769:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:49504769:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:49504769:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: NGFR (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
-=0.125/5 (GENOME_DK)
-=0.431/1661 (ALSPAC)
-=0.4364/1618 (TWINSUK)
HGVS:: NC_000017.11:g.49504778_49504791del, NC_000017.11:g.49504781_49504791del, NC_000017.11:g.49504784_49504791del, NC_000017.11:g.49504785_49504791del, NC_000017.11:g.49504786_49504791del, NC_000017.11:g.49504787_49504791del, NC_000017.11:g.49504788_49504791del, NC_000017.11:g.49504789_49504791del, NC_000017.11:g.49504790_49504791del, NC_000017.11:g.49504791del, NC_000017.11:g.49504791dup, NC_000017.11:g.49504790_49504791dup, NC_000017.11:g.49504789_49504791dup, NC_000017.11:g.49504788_49504791dup, NC_000017.11:g.49504787_49504791dup, NC_000017.11:g.49504786_49504791dup, NC_000017.11:g.49504785_49504791dup, NC_000017.11:g.49504784_49504791dup, NC_000017.11:g.49504782_49504791dup, NC_000017.11:g.49504781_49504791dup, NC_000017.11:g.49504780_49504791dup, NC_000017.11:g.49504776_49504791dup, NC_000017.11:g.49504775_49504791dup, NC_000017.11:g.49504774_49504791dup, NC_000017.10:g.47582140_47582153del, NC_000017.10:g.47582143_47582153del, NC_000017.10:g.47582146_47582153del, NC_000017.10:g.47582147_47582153del, NC_000017.10:g.47582148_47582153del, NC_000017.10:g.47582149_47582153del, NC_000017.10:g.47582150_47582153del, NC_000017.10:g.47582151_47582153del, NC_000017.10:g.47582152_47582153del, NC_000017.10:g.47582153del, NC_000017.10:g.47582153dup, NC_000017.10:g.47582152_47582153dup, NC_000017.10:g.47582151_47582153dup, NC_000017.10:g.47582150_47582153dup, NC_000017.10:g.47582149_47582153dup, NC_000017.10:g.47582148_47582153dup, NC_000017.10:g.47582147_47582153dup, NC_000017.10:g.47582146_47582153dup, NC_000017.10:g.47582144_47582153dup, NC_000017.10:g.47582143_47582153dup, NC_000017.10:g.47582142_47582153dup, NC_000017.10:g.47582138_47582153dup, NC_000017.10:g.47582137_47582153dup, NC_000017.10:g.47582136_47582153dup

Select item 14914750023.

rs1491475002 has merged into rs1407448806 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTCT>-,CT,CTCTCT,CTCTCTCT [Show Flanks]
Chromosome:: 17:49502880 (GRCh38)
17:47580242 (GRCh37)
Canonical SPDI:: NC_000017.11:49502870:TCTCTCTCTCTCT:TCTCTCTCT,NC_000017.11:49502870:TCTCTCTCTCTCT:TCTCTCTCTCT,NC_000017.11:49502870:TCTCTCTCTCTCT:TCTCTCTCTCTCTCT,NC_000017.11:49502870:TCTCTCTCTCTCT:TCTCTCTCTCTCTCTCT
Gene:: NGFR (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCTCTCTCTCT=0./0 (ALFA)
-=0./0 (Korea1K)
-=0.000008/1 (GnomAD)
-=0.000071/1 (TOMMO)
HGVS:: NC_000017.11:g.49502872CT[4], NC_000017.11:g.49502872CT[5], NC_000017.11:g.49502872CT[7], NC_000017.11:g.49502872CT[8], NC_000017.10:g.47580234CT[4], NC_000017.10:g.47580234CT[5], NC_000017.10:g.47580234CT[7], NC_000017.10:g.47580234CT[8]

Select item 14914154024.

rs1491415402 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CTT [Show Flanks]
Chromosome:: 17:49504770 (GRCh38)
17:47582133 (GRCh37)
Canonical SPDI:: NC_000017.11:49504770:TT:TTCTT
Gene:: NGFR (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTCTT=0.05876/697 (ALFA)
TTC=0.12191/1869 (TOMMO)
HGVS:: NC_000017.11:g.49504772_49504773insCTT, NC_000017.10:g.47582134_47582135insCTT

Select item 14913277735.

rs1491327773 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 17:49504773 (GRCh38)
17:47582136 (GRCh37)
Canonical SPDI:: NC_000017.11:49504773::C
Gene:: NGFR (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.00022/10 (GnomAD)
HGVS:: NC_000017.11:g.49504773_49504774insC, NC_000017.10:g.47582135_47582136insC

Select item 14913034286.

rs1491303428 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 17:49502828 (GRCh38)
17:47580190 (GRCh37)
Canonical SPDI:: NC_000017.11:49502827:CT:
Gene:: NGFR (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: -=0.002765/325 (GnomAD)
HGVS:: NC_000017.11:g.49502828_49502829del, NC_000017.10:g.47580190_47580191del

Select item 14909683397.

rs1490968339 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 17:49495250 (GRCh38)
17:47572612 (GRCh37)
Canonical SPDI:: NC_000017.11:49495249:G:A,NC_000017.11:49495249:G:T
Gene:: NGFR (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.49495250G>A, NC_000017.11:g.49495250G>T, NC_000017.10:g.47572612G>A, NC_000017.10:g.47572612G>T

Select item 14909628778.

rs1490962877 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:49496139 (GRCh38)
17:47573501 (GRCh37)
Canonical SPDI:: NC_000017.11:49496138:G:A
Gene:: NGFR (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000017.11:g.49496139G>A, NC_000017.10:g.47573501G>A

Select item 14909355389.

rs1490935538 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:49510861 (GRCh38)
17:47588223 (GRCh37)
Canonical SPDI:: NC_000017.11:49510860:T:C
Gene:: NGFR (Varview), NGFR-AS1 (Varview), MIR6165 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.49510861T>C, NC_000017.10:g.47588223T>C, NR_106751.1:n.45T>C

Select item 149092693210.

rs1490926932 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:49512189 (GRCh38)
17:47589551 (GRCh37)
Canonical SPDI:: NC_000017.11:49512188:G:C
Gene:: NGFR (Varview), NGFR-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.49512189G>C, NC_000017.10:g.47589551G>C

Select item 149061681411.

rs1490616814 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:49513016 (GRCh38)
17:47590378 (GRCh37)
Canonical SPDI:: NC_000017.11:49513015:C:G
Gene:: NGFR (Varview), NGFR-AS1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.49513016C>G, NC_000017.10:g.47590378C>G, NM_002507.4:c.*7C>G, NM_002507.3:c.*7C>G

Select item 149057084012.

rs1490570840 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:49510931 (GRCh38)
17:47588293 (GRCh37)
Canonical SPDI:: NC_000017.11:49510930:C:T
Gene:: NGFR (Varview), NGFR-AS1 (Varview), MIR6165 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000019/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.49510931C>T, NC_000017.10:g.47588293C>T

Select item 149054254913.

rs1490542549 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 17:49503160 (GRCh38)
17:47580522 (GRCh37)
Canonical SPDI:: NC_000017.11:49503159:T:G
Gene:: NGFR (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000017.11:g.49503160T>G, NC_000017.10:g.47580522T>G

Select item 149029639214.

rs1490296392 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:49511906 (GRCh38)
17:47589268 (GRCh37)
Canonical SPDI:: NC_000017.11:49511905:A:G
Gene:: NGFR (Varview), NGFR-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
HGVS:: NC_000017.11:g.49511906A>G, NC_000017.10:g.47589268A>G, NM_002507.4:c.836A>G, NM_002507.3:c.836A>G, NP_002498.1:p.Lys279Arg

Select item 149023226115.

rs1490232261 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:49506618 (GRCh38)
17:47583980 (GRCh37)
Canonical SPDI:: NC_000017.11:49506617:G:A
Gene:: NGFR (Varview), NGFR-AS1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000009/2 (GnomAD_exomes)
HGVS:: NC_000017.11:g.49506618G>A, NC_000017.10:g.47583980G>A, NM_002507.4:c.528G>A, NM_002507.3:c.528G>A

Select item 149020005016.

rs1490200050 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:49502103 (GRCh38)
17:47579465 (GRCh37)
Canonical SPDI:: NC_000017.11:49502102:T:C
Gene:: NGFR (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000008/2 (TOPMED)
C=0.000015/2 (GnomAD)
HGVS:: NC_000017.11:g.49502103T>C, NC_000017.10:g.47579465T>C, NM_002507.4:c.107T>C, NM_002507.3:c.107T>C, NP_002498.1:p.Leu36Pro

Select item 149007669017.

rs1490076690 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:49503565 (GRCh38)
17:47580927 (GRCh37)
Canonical SPDI:: NC_000017.11:49503564:G:A
Gene:: NGFR (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.49503565G>A, NC_000017.10:g.47580927G>A

Select item 148977434218.

rs1489774342 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 17:49510009 (GRCh38)
17:47587371 (GRCh37)
Canonical SPDI:: NC_000017.11:49510008:C:G,NC_000017.11:49510008:C:T
Gene:: NGFR (Varview), NGFR-AS1 (Varview), MIR6165 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.49510009C>G, NC_000017.11:g.49510009C>T, NC_000017.10:g.47587371C>G, NC_000017.10:g.47587371C>T

Select item 148977205119.

rs1489772051 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 17:49508658 (GRCh38)
17:47586020 (GRCh37)
Canonical SPDI:: NC_000017.11:49508657:T:A,NC_000017.11:49508657:T:C
Gene:: NGFR (Varview), NGFR-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
C=0.001638/3 (Korea1K)
HGVS:: NC_000017.11:g.49508658T>A, NC_000017.11:g.49508658T>C, NC_000017.10:g.47586020T>A, NC_000017.10:g.47586020T>C

Select item 148956460920.

rs1489564609 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:49501558 (GRCh38)
17:47578920 (GRCh37)
Canonical SPDI:: NC_000017.11:49501557:G:A
Gene:: NGFR (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.49501558G>A, NC_000017.10:g.47578920G>A

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