SNP Links for Gene (Select 9801) - SNP

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Select item 14913833091.

rs1491383309 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 2:75655051 (GRCh38)
2:75882177 (GRCh37)
Canonical SPDI:: NC_000002.12:75655050:TA:
Gene:: MRPL19 (Varview)
Functional Consequence:: intron_variant
Validated:: by cluster
HGVS:: NC_000002.12:g.75655051_75655052del, NC_000002.11:g.75882177_75882178del

Select item 14912027152.

rs1491202715 has merged into rs35367062 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 2:75655041 (GRCh38)
2:75882167 (GRCh37)
Canonical SPDI:: NC_000002.12:75655030:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000002.12:75655030:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000002.12:75655030:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000002.12:75655030:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:75655030:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000002.12:75655030:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:75655030:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:75655030:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:75655030:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000002.12:75655030:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000002.12:75655030:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000002.12:75655030:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:75655030:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:75655030:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:75655030:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:75655030:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:75655030:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:75655030:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:75655030:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:75655030:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:75655030:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:75655030:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:75655030:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: MRPL19 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
-=0.4371/2189 (1000Genomes)
HGVS:: NC_000002.12:g.75655041_75655051del, NC_000002.12:g.75655042_75655051del, NC_000002.12:g.75655043_75655051del, NC_000002.12:g.75655044_75655051del, NC_000002.12:g.75655045_75655051del, NC_000002.12:g.75655046_75655051del, NC_000002.12:g.75655047_75655051del, NC_000002.12:g.75655048_75655051del, NC_000002.12:g.75655049_75655051del, NC_000002.12:g.75655050_75655051del, NC_000002.12:g.75655051del, NC_000002.12:g.75655051dup, NC_000002.12:g.75655050_75655051dup, NC_000002.12:g.75655049_75655051dup, NC_000002.12:g.75655048_75655051dup, NC_000002.12:g.75655047_75655051dup, NC_000002.12:g.75655044_75655051dup, NC_000002.12:g.75655042_75655051dup, NC_000002.12:g.75655038_75655051dup, NC_000002.12:g.75655037_75655051dup, NC_000002.12:g.75655036_75655051dup, NC_000002.12:g.75655032_75655051dup, NC_000002.12:g.75655031_75655051dup, NC_000002.11:g.75882167_75882177del, NC_000002.11:g.75882168_75882177del, NC_000002.11:g.75882169_75882177del, NC_000002.11:g.75882170_75882177del, NC_000002.11:g.75882171_75882177del, NC_000002.11:g.75882172_75882177del, NC_000002.11:g.75882173_75882177del, NC_000002.11:g.75882174_75882177del, NC_000002.11:g.75882175_75882177del, NC_000002.11:g.75882176_75882177del, NC_000002.11:g.75882177del, NC_000002.11:g.75882177dup, NC_000002.11:g.75882176_75882177dup, NC_000002.11:g.75882175_75882177dup, NC_000002.11:g.75882174_75882177dup, NC_000002.11:g.75882173_75882177dup, NC_000002.11:g.75882170_75882177dup, NC_000002.11:g.75882168_75882177dup, NC_000002.11:g.75882164_75882177dup, NC_000002.11:g.75882163_75882177dup, NC_000002.11:g.75882162_75882177dup, NC_000002.11:g.75882158_75882177dup, NC_000002.11:g.75882157_75882177dup

Select item 14909608203.

rs1490960820 [Homo sapiens]

Variant type:: DELINS
Alleles:: TCTCCA>- [Show Flanks]
Chromosome:: 2:75651615 (GRCh38)
2:75878741 (GRCh37)
Canonical SPDI:: NC_000002.12:75651611:CCATCTCCA:CCA
Gene:: MRPL19 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCA=0./0 (ALFA)
-=0.000011/3 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.75651615_75651620del, NC_000002.11:g.75878741_75878746del, NG_008701.2:g.132_137del

Select item 14906984244.

rs1490698424 [Homo sapiens]

Variant type:: DELINS
Alleles:: AGAT>- [Show Flanks]
Chromosome:: 2:75658720 (GRCh38)
2:75885846 (GRCh37)
Canonical SPDI:: NC_000002.12:75658716:GATAGAT:GAT
Gene:: MRPL19 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GAT=0./0 (ALFA)
-=0.000011/3 (TOPMED)
-=0.000021/3 (GnomAD)
HGVS:: NC_000002.12:g.75658720_75658723del, NC_000002.11:g.75885846_75885849del, NM_014763.4:c.*3435_*3438del, NM_014763.3:c.*3435_*3438del

Select item 14906929355.

rs1490692935 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 2:75659787 (GRCh38)
2:75886913 (GRCh37)
Canonical SPDI:: NC_000002.12:75659786:T:A
Gene:: MRPL19 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000002.12:g.75659787T>A, NC_000002.11:g.75886913T>A, NM_014763.4:c.*4502T>A, NM_014763.3:c.*4502T>A

Select item 14904132106.

rs1490413210 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 2:75652910 (GRCh38)
2:75880036 (GRCh37)
Canonical SPDI:: NC_000002.12:75652909:G:T
Gene:: MRPL19 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.75652910G>T, NC_000002.11:g.75880036G>T

Select item 14902090667.

rs1490209066 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:75658320 (GRCh38)
2:75885446 (GRCh37)
Canonical SPDI:: NC_000002.12:75658319:T:C
Gene:: MRPL19 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000019/5 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000002.12:g.75658320T>C, NC_000002.11:g.75885446T>C, NM_014763.4:c.*3035T>C, NM_014763.3:c.*3035T>C

Select item 14902042728.

rs1490204272 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:75659263 (GRCh38)
2:75886389 (GRCh37)
Canonical SPDI:: NC_000002.12:75659262:T:C
Gene:: MRPL19 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.75659263T>C, NC_000002.11:g.75886389T>C, NM_014763.4:c.*3978T>C, NM_014763.3:c.*3978T>C

Select item 14901303089.

rs1490130308 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:75654871 (GRCh38)
2:75881997 (GRCh37)
Canonical SPDI:: NC_000002.12:75654870:T:C
Gene:: MRPL19 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000014/2 (GnomAD)
C=0.000015/4 (TOPMED)
HGVS:: NC_000002.12:g.75654871T>C, NC_000002.11:g.75881997T>C, NM_014763.4:c.611T>C, NM_014763.3:c.611T>C, NP_055578.2:p.Met204Thr

Select item 149005531010.

rs1490055310 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 2:75651871 (GRCh38)
2:75878997 (GRCh37)
Canonical SPDI:: NC_000002.12:75651870:A:C
Gene:: MRPL19 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000216/4 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000021/3 (GnomAD)
C=0.00067/3 (Estonian)
HGVS:: NC_000002.12:g.75651871A>C, NC_000002.11:g.75878997A>C

Select item 148976656011.

rs1489766560 [Homo sapiens]

Variant type:: DELINS
Alleles:: TAAT>- [Show Flanks]
Chromosome:: 2:75651209 (GRCh38)
2:75878335 (GRCh37)
Canonical SPDI:: NC_000002.12:75651207:TTAAT:T
Gene:: MRPL19 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000002.12:g.75651209_75651212del, NC_000002.11:g.75878335_75878338del, NG_008701.2:g.538_541del

Select item 148913314512.

rs1489133145 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 2:75646589 (GRCh38)
2:75873715 (GRCh37)
Canonical SPDI:: NC_000002.12:75646588:GG:G
Gene:: MRPL19 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.75646590del, NC_000002.11:g.75873716del, NG_061332.1:g.108del

Select item 148902611813.

rs1489026118 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:75645662 (GRCh38)
2:75872788 (GRCh37)
Canonical SPDI:: NC_000002.12:75645661:C:T
Gene:: MRPL19 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000108/2 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
T=0.000446/2 (Estonian)
HGVS:: NC_000002.12:g.75645662C>T, NC_000002.11:g.75872788C>T

Select item 148893083314.

rs1488930833 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:75649638 (GRCh38)
2:75876764 (GRCh37)
Canonical SPDI:: NC_000002.12:75649637:G:A
Gene:: MRPL19 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.75649638G>A, NC_000002.11:g.75876764G>A

Select item 148878818315.

rs1488788183 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 2:75650690 (GRCh38)
2:75877816 (GRCh37)
Canonical SPDI:: NC_000002.12:75650689:T:A
Gene:: MRPL19 (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_000002.12:g.75650690T>A, NC_000002.11:g.75877816T>A, NG_008701.2:g.1059A>T

Select item 148851422616.

rs1488514226 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 2:75655078 (GRCh38)
2:75882204 (GRCh37)
Canonical SPDI:: NC_000002.12:75655077:G:A,NC_000002.12:75655077:G:T
Gene:: MRPL19 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/1 (GnomAD)
T=0.002513/42 (TOMMO)
HGVS:: NC_000002.12:g.75655078G>A, NC_000002.12:g.75655078G>T, NC_000002.11:g.75882204G>A, NC_000002.11:g.75882204G>T, NM_014763.4:c.672G>A, NM_014763.4:c.672G>T, NM_014763.3:c.672G>A, NM_014763.3:c.672G>T, NP_055578.2:p.Met224Ile, NP_055578.2:p.Met224Ile

Select item 148847920617.

rs1488479206 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 2:75645777 (GRCh38)
2:75872903 (GRCh37)
Canonical SPDI:: NC_000002.12:75645776:G:A,NC_000002.12:75645776:G:C
Gene:: MRPL19 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000029/4 (GnomAD)
HGVS:: NC_000002.12:g.75645777G>A, NC_000002.12:g.75645777G>C, NC_000002.11:g.75872903G>A, NC_000002.11:g.75872903G>C

Select item 148832727418.

rs1488327274 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:75658833 (GRCh38)
2:75885959 (GRCh37)
Canonical SPDI:: NC_000002.12:75658832:A:G
Gene:: MRPL19 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.75658833A>G, NC_000002.11:g.75885959A>G, NM_014763.4:c.*3548A>G, NM_014763.3:c.*3548A>G

Select item 148802310019.

rs1488023100 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 2:75648741 (GRCh38)
2:75875867 (GRCh37)
Canonical SPDI:: NC_000002.12:75648740:T:G
Gene:: MRPL19 (Varview)
Functional Consequence:: 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_000002.12:g.75648741T>G, NC_000002.11:g.75875867T>G

Select item 148768688220.

rs1487686882 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 2:75656851 (GRCh38)
2:75883977 (GRCh37)
Canonical SPDI:: NC_000002.12:75656850:C:A,NC_000002.12:75656850:C:T
Gene:: MRPL19 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.75656851C>A, NC_000002.12:g.75656851C>T, NC_000002.11:g.75883977C>A, NC_000002.11:g.75883977C>T, NM_014763.4:c.*1566C>A, NM_014763.4:c.*1566C>T, NM_014763.3:c.*1566C>A, NM_014763.3:c.*1566C>T

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