SNP Links for Nucleotide (Select 1007383945) - SNP

Links from Nucleotide

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Select item 14896320731.

rs1489632073 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 19:45692313 (GRCh38)
19:46195571 (GRCh37)
Canonical SPDI:: NC_000019.10:45692312:C:A
Gene:: SNRPD2 (Varview), QPCTL (Varview)
Functional Consequence:: 2KB_upstream_variant,5_prime_UTR_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000198/3 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000893/4 (Estonian)
HGVS:: NC_000019.10:g.45692313C>A, NC_000019.9:g.46195571C>A, NM_004597.6:c.-252G>T

Select item 14887065942.

rs1488706594 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:45692206 (GRCh38)
19:46195464 (GRCh37)
Canonical SPDI:: NC_000019.10:45692205:C:T
Gene:: SNRPD2 (Varview), QPCTL (Varview)
Functional Consequence:: 2KB_upstream_variant,5_prime_UTR_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)
T=0.000035/1 (TOMMO)
HGVS:: NC_000019.10:g.45692206C>T, NC_000019.9:g.46195464C>T, NM_004597.6:c.-145G>A

Select item 14846543133.

rs1484654313 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 19:45691889 (GRCh38)
19:46195147 (GRCh37)
Canonical SPDI:: NC_000019.10:45691888:G:A,NC_000019.10:45691888:G:T
Gene:: SNRPD2 (Varview), QPCTL (Varview)
Functional Consequence:: 2KB_upstream_variant,5_prime_UTR_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000019.10:g.45691889G>A, NC_000019.10:g.45691889G>T, NC_000019.9:g.46195147G>A, NC_000019.9:g.46195147G>T, NM_004597.6:c.-1C>T, NM_004597.6:c.-1C>A, NM_004597.5:c.-1C>T, NM_004597.5:c.-1C>A, NM_177542.3:c.-146C>T, NM_177542.3:c.-146C>A, NM_177542.2:c.-146C>T, NM_177542.2:c.-146C>A, NM_001369751.1:c.-127C>T, NM_001369751.1:c.-127C>A, NM_001369752.1:c.-1C>T, NM_001369752.1:c.-1C>A, NM_001384647.1:c.-1C>T, NM_001384647.1:c.-1C>A

Select item 14837653604.

rs1483765360 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAG>- [Show Flanks]
Chromosome:: 19:45691945 (GRCh38)
19:46195203 (GRCh37)
Canonical SPDI:: NC_000019.10:45691941:GAGGAG:GAG
Gene:: SNRPD2 (Varview), QPCTL (Varview)
Functional Consequence:: 2KB_upstream_variant,5_prime_UTR_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GAGGAG=0./0 (ALFA)
-=0.000014/2 (GnomAD)
-=0.000023/6 (TOPMED)
HGVS:: NC_000019.10:g.45691942GAG[1], NC_000019.9:g.46195200GAG[1], NM_004597.6:c.-59CTC[1], NM_004597.5:c.-59CTC[1], NM_177542.3:c.-204CTC[1], NM_177542.2:c.-204CTC[1], NM_001369751.1:c.-185CTC[1], NM_001369752.1:c.-59CTC[1], NM_001384647.1:c.-59CTC[1]

Select item 14814921725.

rs1481492172 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:45692271 (GRCh38)
19:46195529 (GRCh37)
Canonical SPDI:: NC_000019.10:45692270:T:C
Gene:: SNRPD2 (Varview), QPCTL (Varview)
Functional Consequence:: 2KB_upstream_variant,5_prime_UTR_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.45692271T>C, NC_000019.9:g.46195529T>C, NM_004597.6:c.-210A>G

Select item 14782899946.

rs1478289994 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:45692288 (GRCh38)
19:46195546 (GRCh37)
Canonical SPDI:: NC_000019.10:45692287:G:C
Gene:: SNRPD2 (Varview), QPCTL (Varview)
Functional Consequence:: 2KB_upstream_variant,5_prime_UTR_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000019.10:g.45692288G>C, NC_000019.9:g.46195546G>C, NM_004597.6:c.-227C>G

Select item 14776777547.

rs1477677754 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 19:45687629 (GRCh38)
19:46190887 (GRCh37)
Canonical SPDI:: NC_000019.10:45687628:C:A,NC_000019.10:45687628:C:T
Gene:: SNRPD2 (Varview)
Functional Consequence:: missense_variant,3_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (GnomAD_exomes)
T=0.000011/3 (TOPMED)
HGVS:: NC_000019.10:g.45687629C>A, NC_000019.10:g.45687629C>T, NC_000019.9:g.46190887C>A, NC_000019.9:g.46190887C>T, NM_004597.6:c.281G>T, NM_004597.6:c.281G>A, NM_004597.5:c.281G>T, NM_004597.5:c.281G>A, NM_177542.3:c.251G>T, NM_177542.3:c.251G>A, NM_177542.2:c.251G>T, NM_177542.2:c.251G>A, NM_001369751.1:c.251G>T, NM_001369751.1:c.251G>A, NM_001369752.1:c.*70G>T, NM_001369752.1:c.*70G>A, NM_001384647.1:c.281G>T, NM_001384647.1:c.281G>A, NP_004588.1:p.Arg94Leu, NP_004588.1:p.Arg94His, NP_808210.2:p.Arg84Leu, NP_808210.2:p.Arg84His, NP_001356680.1:p.Arg84Leu, NP_001356680.1:p.Arg84His, NP_001371576.1:p.Arg94Leu, NP_001371576.1:p.Arg94His

Select item 14719882298.

rs1471988229 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:45688511 (GRCh38)
19:46191769 (GRCh37)
Canonical SPDI:: NC_000019.10:45688510:C:T
Gene:: SNRPD2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.45688511C>T, NC_000019.9:g.46191769C>T, NM_004597.6:c.58G>A, NM_004597.5:c.58G>A, NM_177542.3:c.28G>A, NM_177542.2:c.28G>A, NM_001369751.1:c.28G>A, NM_001369752.1:c.58G>A, NM_001384647.1:c.58G>A, NP_004588.1:p.Glu20Lys, NP_808210.2:p.Glu10Lys, NP_001356680.1:p.Glu10Lys, NP_001356681.1:p.Glu20Lys, NP_001371576.1:p.Glu20Lys

Select item 14692306069.

rs1469230606 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:45691972 (GRCh38)
19:46195230 (GRCh37)
Canonical SPDI:: NC_000019.10:45691971:G:C
Gene:: SNRPD2 (Varview), QPCTL (Varview)
Functional Consequence:: 2KB_upstream_variant,5_prime_UTR_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000019.10:g.45691972G>C, NC_000019.9:g.46195230G>C, NM_004597.6:c.-84C>G, NM_004597.5:c.-84C>G, NM_177542.3:c.-229C>G, NM_177542.2:c.-229C>G

Select item 145909808910.

rs1459098089 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:45688521 (GRCh38)
19:46191779 (GRCh37)
Canonical SPDI:: NC_000019.10:45688520:C:T
Gene:: SNRPD2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.45688521C>T, NC_000019.9:g.46191779C>T, NM_004597.6:c.48G>A, NM_004597.5:c.48G>A, NM_177542.3:c.18G>A, NM_177542.2:c.18G>A, NM_001369751.1:c.18G>A, NM_001369752.1:c.48G>A, NM_001384647.1:c.48G>A

Select item 145780109411.

rs1457801094 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 19:45687547 (GRCh38)
19:46190805 (GRCh37)
Canonical SPDI:: NC_000019.10:45687546:C:A,NC_000019.10:45687546:C:T
Gene:: SNRPD2 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
T=0.000008/2 (GnomAD_exomes)
C=0.5/1 (SGDP_PRJ)
HGVS:: NC_000019.10:g.45687547C>A, NC_000019.10:g.45687547C>T, NC_000019.9:g.46190805C>A, NC_000019.9:g.46190805C>T, NM_004597.6:c.*6G>T, NM_004597.6:c.*6G>A, NM_004597.5:c.*6G>T, NM_004597.5:c.*6G>A, NM_177542.3:c.*6G>T, NM_177542.3:c.*6G>A, NM_177542.2:c.*6G>T, NM_177542.2:c.*6G>A, NM_001369751.1:c.*6G>T, NM_001369751.1:c.*6G>A, NM_001369752.1:c.*152G>T, NM_001369752.1:c.*152G>A, NM_001384647.1:c.*6G>T, NM_001384647.1:c.*6G>A

Select item 145552780712.

rs1455527807 [Homo sapiens]

Variant type:: INS
Alleles:: ->AAAAGACT [Show Flanks]
Chromosome:: 19:45691907 (GRCh38)
19:46195166 (GRCh37)
Canonical SPDI:: NC_000019.10:45691907::AAAAGACT
Gene:: SNRPD2 (Varview), QPCTL (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,5_prime_UTR_variant
HGVS:: NC_000019.10:g.45691907_45691908insAAAAGACT, NC_000019.9:g.46195165_46195166insAAAAGACT, NM_004597.6:c.-20_-19insAGTCTTTT, NM_004597.5:c.-20_-19insAGTCTTTT, NM_177542.3:c.-165_-164insAGTCTTTT, NM_177542.2:c.-165_-164insAGTCTTTT, NM_001369751.1:c.-146_-145insAGTCTTTT, NM_001369752.1:c.-20_-19insAGTCTTTT, NM_001384647.1:c.-20_-19insAGTCTTTT

Select item 145301240413.

rs1453012404 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 19:45692196 (GRCh38)
19:46195454 (GRCh37)
Canonical SPDI:: NC_000019.10:45692195:A:C
Gene:: SNRPD2 (Varview), QPCTL (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.45692196A>C, NC_000019.9:g.46195454A>C, NM_004597.6:c.-135T>G

Select item 144105313114.

rs1441053131 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 19:45687515 (GRCh38)
19:46190773 (GRCh37)
Canonical SPDI:: NC_000019.10:45687514:GG:G
Gene:: SNRPD2 (Varview)
Functional Consequence:: 3_prime_UTR_variant
HGVS:: NC_000019.10:g.45687516del, NC_000019.9:g.46190774del, NM_004597.6:c.*38del, NM_004597.5:c.*38del, NM_177542.3:c.*38del, NM_177542.2:c.*38del, NM_001369751.1:c.*38del, NM_001369752.1:c.*184del, NM_001384647.1:c.*38del

Select item 143289704415.

rs1432897044 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 19:45692177 (GRCh38)
19:46195435 (GRCh37)
Canonical SPDI:: NC_000019.10:45692176:G:A,NC_000019.10:45692176:G:C
Gene:: SNRPD2 (Varview), QPCTL (Varview)
Functional Consequence:: genic_upstream_transcript_variant,5_prime_UTR_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.45692177G>A, NC_000019.10:g.45692177G>C, NC_000019.9:g.46195435G>A, NC_000019.9:g.46195435G>C, NM_004597.6:c.-116C>T, NM_004597.6:c.-116C>G, NM_004597.5:c.-289C>T, NM_004597.5:c.-289C>G, NM_177542.2:c.-434C>T, NM_177542.2:c.-434C>G

Select item 142730329616.

rs1427303296 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 19:45692275 (GRCh38)
19:46195533 (GRCh37)
Canonical SPDI:: NC_000019.10:45692274:C:A
Gene:: SNRPD2 (Varview), QPCTL (Varview)
Functional Consequence:: genic_upstream_transcript_variant,5_prime_UTR_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.45692275C>A, NC_000019.9:g.46195533C>A, NM_004597.6:c.-214G>T

Select item 142481787517.

rs1424817875 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 19:45691990 (GRCh38)
19:46195248 (GRCh37)
Canonical SPDI:: NC_000019.10:45691989:C:G
Gene:: SNRPD2 (Varview), QPCTL (Varview)
Functional Consequence:: genic_upstream_transcript_variant,5_prime_UTR_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.45691990C>G, NC_000019.9:g.46195248C>G, NM_004597.6:c.-102G>C, NM_004597.5:c.-102G>C, NM_177542.3:c.-247G>C, NM_177542.2:c.-247G>C

Select item 142406844418.

rs1424068444 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 19:45688405 (GRCh38)
19:46191663 (GRCh37)
Canonical SPDI:: NC_000019.10:45688404:C:G,NC_000019.10:45688404:C:T
Gene:: SNRPD2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.45688405C>G, NC_000019.10:g.45688405C>T, NC_000019.9:g.46191663C>G, NC_000019.9:g.46191663C>T, NM_004597.6:c.164G>C, NM_004597.6:c.164G>A, NM_004597.5:c.164G>C, NM_004597.5:c.164G>A, NM_177542.3:c.134G>C, NM_177542.3:c.134G>A, NM_177542.2:c.134G>C, NM_177542.2:c.134G>A, NM_001369751.1:c.134G>C, NM_001369751.1:c.134G>A, NM_001369752.1:c.164G>C, NM_001369752.1:c.164G>A, NM_001384647.1:c.164G>C, NM_001384647.1:c.164G>A, NP_004588.1:p.Arg55Pro, NP_004588.1:p.Arg55His, NP_808210.2:p.Arg45Pro, NP_808210.2:p.Arg45His, NP_001356680.1:p.Arg45Pro, NP_001356680.1:p.Arg45His, NP_001356681.1:p.Arg55Pro, NP_001356681.1:p.Arg55His, NP_001371576.1:p.Arg55Pro, NP_001371576.1:p.Arg55His

Select item 141126426419.

rs1411264264 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:45687667 (GRCh38)
19:46190925 (GRCh37)
Canonical SPDI:: NC_000019.10:45687666:G:A
Gene:: SNRPD2 (Varview)
Functional Consequence:: synonymous_variant,3_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.45687667G>A, NC_000019.9:g.46190925G>A, NM_004597.6:c.243C>T, NM_004597.5:c.243C>T, NM_177542.3:c.213C>T, NM_177542.2:c.213C>T, NM_001369751.1:c.213C>T, NM_001369752.1:c.*32C>T, NM_001384647.1:c.243C>T

Select item 140915226720.

rs1409152267 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:45688412 (GRCh38)
19:46191670 (GRCh37)
Canonical SPDI:: NC_000019.10:45688411:G:A
Gene:: SNRPD2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.45688412G>A, NC_000019.9:g.46191670G>A, NM_004597.6:c.157C>T, NM_004597.5:c.157C>T, NM_177542.3:c.127C>T, NM_177542.2:c.127C>T, NM_001369751.1:c.127C>T, NM_001369752.1:c.157C>T, NM_001384647.1:c.157C>T

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