SNP Links for Nucleotide (Select 1180231664) - SNP - NCBI

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Links from Nucleotide

Items: 1 to 20 of 464

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Select item 14900214651.

rs1490021465 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:150325848 (GRCh38)
1:150298306 (GRCh37)
Canonical SPDI:: NC_000001.11:150325847:T:C
Gene:: PRPF3 (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,synonymous_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (GnomAD_exomes)
C=0.000019/5 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000001.11:g.150325848T>C, NW_003871055.3:g.7141261T>C, NG_008245.2:g.9382T>C, NG_008245.1:g.9379T>C, NM_004698.4:c.243T>C, NM_004698.3:c.243T>C, NM_004698.2:c.243T>C, NR_146767.1:n.416T>C, NM_001350529.1:c.-259T>C, NR_146769.1:n.416T>C, NR_146766.1:n.416T>C, NR_146768.1:n.416T>C, NC_000001.10:g.150298306T>C, XM_011510131.4:c.243T>C, XM_011510131.3:c.243T>C, XM_011510131.2:c.243T>C, XM_011510131.1:c.243T>C, XM_011510132.4:c.243T>C, XM_011510132.3:c.243T>C, XM_011510132.2:c.243T>C, XM_011510132.1:c.243T>C, XM_017002791.3:c.243T>C, XM_017002791.2:c.243T>C, XM_017002791.1:c.243T>C, XM_047433995.1:c.243T>C, XR_007064872.1:n.416T>C, XR_007064873.1:n.416T>C, XM_047434009.1:c.243T>C

Select item 14897409972.

rs1489740997 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:150338166 (GRCh38)
1:150310642 (GRCh37)
Canonical SPDI:: NC_000001.11:150338165:C:T
Gene:: PRPF3 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,intron_variant,coding_sequence_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000028/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000012/3 (GnomAD_exomes)
T=0.000019/5 (TOPMED)
HGVS:: NC_000001.11:g.150338166C>T, NW_003871055.3:g.7153579C>T, NG_008245.2:g.21700C>T, NG_008245.1:g.21715C>T, NM_004698.4:c.1042C>T, NM_004698.3:c.1042C>T, NM_004698.2:c.1042C>T, NR_146767.1:n.1311C>T, NM_001350529.1:c.637C>T, NR_146769.1:n.1215C>T, NR_146766.1:n.1215C>T, NR_146768.1:n.1215C>T, NC_000001.10:g.150310642C>T, XM_011510130.4:c.610C>T, XM_011510130.3:c.610C>T, XM_011510130.2:c.610C>T, XM_011510130.1:c.610C>T, XM_011510131.4:c.1042C>T, XM_011510131.3:c.1042C>T, XM_011510131.2:c.1042C>T, XM_011510131.1:c.1042C>T, XM_011510132.4:c.1042C>T, XM_011510132.3:c.1042C>T, XM_011510132.2:c.1042C>T, XM_011510132.1:c.1042C>T, XM_047433995.1:c.1042C>T, XR_007064872.1:n.1215C>T, XR_007064873.1:n.1215C>T

Select item 14895498283.

rs1489549828 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 1:150335143 (GRCh38)
1:150307614 (GRCh37)
Canonical SPDI:: NC_000001.11:150335142:C:A,NC_000001.11:150335142:C:T
Gene:: PRPF3 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
T=0.000036/5 (GnomAD)
HGVS:: NC_000001.11:g.150335143C>A, NC_000001.11:g.150335143C>T, NW_003871055.3:g.7150556C>A, NW_003871055.3:g.7150556C>T, NG_008245.2:g.18677C>A, NG_008245.2:g.18677C>T, NG_008245.1:g.18687C>A, NG_008245.1:g.18687C>T, NM_004698.4:c.937C>A, NM_004698.4:c.937C>T, NM_004698.3:c.937C>A, NM_004698.3:c.937C>T, NM_004698.2:c.937C>A, NM_004698.2:c.937C>T, NR_146767.1:n.1206C>A, NR_146767.1:n.1206C>T, NM_001350529.1:c.532C>A, NM_001350529.1:c.532C>T, NR_146769.1:n.1110C>A, NR_146769.1:n.1110C>T, NR_146766.1:n.1110C>A, NR_146766.1:n.1110C>T, NR_146768.1:n.1110C>A, NR_146768.1:n.1110C>T, NC_000001.10:g.150307614C>A, NC_000001.10:g.150307614C>T, XM_011510130.4:c.505C>A, XM_011510130.4:c.505C>T, XM_011510130.3:c.505C>A, XM_011510130.3:c.505C>T, XM_011510130.2:c.505C>A, XM_011510130.2:c.505C>T, XM_011510130.1:c.505C>A, XM_011510130.1:c.505C>T, XM_011510131.4:c.937C>A, XM_011510131.4:c.937C>T, XM_011510131.3:c.937C>A, XM_011510131.3:c.937C>T, XM_011510131.2:c.937C>A, XM_011510131.2:c.937C>T, XM_011510131.1:c.937C>A, XM_011510131.1:c.937C>T, XM_011510132.4:c.937C>A, XM_011510132.4:c.937C>T, XM_011510132.3:c.937C>A, XM_011510132.3:c.937C>T, XM_011510132.2:c.937C>A, XM_011510132.2:c.937C>T, XM_011510132.1:c.937C>A, XM_011510132.1:c.937C>T, XM_017002791.3:c.937C>A, XM_017002791.3:c.937C>T, XM_017002791.2:c.937C>A, XM_017002791.2:c.937C>T, XM_017002791.1:c.937C>A, XM_017002791.1:c.937C>T, XM_047433995.1:c.937C>A, XM_047433995.1:c.937C>T, XR_007064872.1:n.1110C>A, XR_007064872.1:n.1110C>T, XR_007064873.1:n.1110C>A, XR_007064873.1:n.1110C>T, XM_047434009.1:c.937C>A, XM_047434009.1:c.937C>T, NP_004689.1:p.Pro313Thr, NP_004689.1:p.Pro313Ser, NP_001337458.1:p.Pro178Thr, NP_001337458.1:p.Pro178Ser, XP_011508432.1:p.Pro169Thr, XP_011508432.1:p.Pro169Ser, XP_011508433.1:p.Pro313Thr, XP_011508433.1:p.Pro313Ser, XP_011508434.1:p.Pro313Thr, XP_011508434.1:p.Pro313Ser, XP_016858280.1:p.Pro313Thr, XP_016858280.1:p.Pro313Ser, XP_047289951.1:p.Pro313Thr, XP_047289951.1:p.Pro313Ser, XP_047289965.1:p.Pro313Thr, XP_047289965.1:p.Pro313Ser

Select item 14857588454.

rs1485758845 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:150325823 (GRCh38)
1:150298281 (GRCh37)
Canonical SPDI:: NC_000001.11:150325822:G:T
Gene:: PRPF3 (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,non_coding_transcript_variant,missense_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.150325823G>T, NW_003871055.3:g.7141236G>T, NG_008245.2:g.9357G>T, NG_008245.1:g.9354G>T, NM_004698.4:c.218G>T, NM_004698.3:c.218G>T, NM_004698.2:c.218G>T, NR_146767.1:n.391G>T, NM_001350529.1:c.-284G>T, NR_146769.1:n.391G>T, NR_146766.1:n.391G>T, NR_146768.1:n.391G>T, NC_000001.10:g.150298281G>T, XM_011510131.4:c.218G>T, XM_011510131.3:c.218G>T, XM_011510131.2:c.218G>T, XM_011510131.1:c.218G>T, XM_011510132.4:c.218G>T, XM_011510132.3:c.218G>T, XM_011510132.2:c.218G>T, XM_011510132.1:c.218G>T, XM_017002791.3:c.218G>T, XM_017002791.2:c.218G>T, XM_017002791.1:c.218G>T, XM_047433995.1:c.218G>T, XR_007064872.1:n.391G>T, XR_007064873.1:n.391G>T, XM_047434009.1:c.218G>T, NP_004689.1:p.Gly73Val, XP_011508433.1:p.Gly73Val, XP_011508434.1:p.Gly73Val, XP_016858280.1:p.Gly73Val, XP_047289951.1:p.Gly73Val, XP_047289965.1:p.Gly73Val

Select item 14841621925.

rs1484162192 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:150353150 (GRCh38)
1:150325626 (GRCh37)
Canonical SPDI:: NC_000001.11:150353149:C:T
Gene:: PRPF3 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.150353150C>T, NW_003871055.3:g.7168563C>T, NG_008245.2:g.36684C>T, NG_008245.1:g.36699C>T, NM_004698.4:c.*171C>T, NM_004698.3:c.*171C>T, NM_004698.2:c.*171C>T, NR_146767.1:n.2550C>T, NM_001350529.1:c.*171C>T, NR_146769.1:n.2459C>T, NR_146766.1:n.2454C>T, NR_146768.1:n.2406C>T, NC_000001.10:g.150325626C>T, XM_011510130.4:c.*171C>T, XM_011510130.3:c.*171C>T, XM_011510130.2:c.*171C>T, XM_011510130.1:c.*171C>T, XM_047433995.1:c.*171C>T

Select item 14821381616.

rs1482138161 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 1:150353017 (GRCh38)
1:150325493 (GRCh37)
Canonical SPDI:: NC_000001.11:150353016:G:A,NC_000001.11:150353016:G:C
Gene:: PRPF3 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
A=0.000035/1 (TOMMO)
HGVS:: NC_000001.11:g.150353017G>A, NC_000001.11:g.150353017G>C, NW_003871055.3:g.7168430G>A, NW_003871055.3:g.7168430G>C, NG_008245.2:g.36551G>A, NG_008245.2:g.36551G>C, NG_008245.1:g.36566G>A, NG_008245.1:g.36566G>C, NM_004698.4:c.*38G>A, NM_004698.4:c.*38G>C, NM_004698.3:c.*38G>A, NM_004698.3:c.*38G>C, NM_004698.2:c.*38G>A, NM_004698.2:c.*38G>C, NR_146767.1:n.2417G>A, NR_146767.1:n.2417G>C, NM_001350529.1:c.*38G>A, NM_001350529.1:c.*38G>C, NR_146769.1:n.2326G>A, NR_146769.1:n.2326G>C, NR_146766.1:n.2321G>A, NR_146766.1:n.2321G>C, NR_146768.1:n.2273G>A, NR_146768.1:n.2273G>C, NC_000001.10:g.150325493G>A, NC_000001.10:g.150325493G>C, XM_011510130.4:c.*38G>A, XM_011510130.4:c.*38G>C, XM_011510130.3:c.*38G>A, XM_011510130.3:c.*38G>C, XM_011510130.2:c.*38G>A, XM_011510130.2:c.*38G>C, XM_011510130.1:c.*38G>A, XM_011510130.1:c.*38G>C, XM_047433995.1:c.*38G>A, XM_047433995.1:c.*38G>C

Select item 14805421667.

rs1480542166 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:150333183 (GRCh38)
1:150305654 (GRCh37)
Canonical SPDI:: NC_000001.11:150333182:A:G
Gene:: PRPF3 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000001.11:g.150333183A>G, NW_003871055.3:g.7148596A>G, NG_008245.2:g.16717A>G, NG_008245.1:g.16727A>G, NM_004698.4:c.712A>G, NM_004698.3:c.712A>G, NM_004698.2:c.712A>G, NR_146767.1:n.981A>G, NM_001350529.1:c.307A>G, NR_146769.1:n.885A>G, NR_146766.1:n.885A>G, NR_146768.1:n.885A>G, NC_000001.10:g.150305654A>G, XM_011510130.4:c.280A>G, XM_011510130.3:c.280A>G, XM_011510130.2:c.280A>G, XM_011510130.1:c.280A>G, XM_011510131.4:c.712A>G, XM_011510131.3:c.712A>G, XM_011510131.2:c.712A>G, XM_011510131.1:c.712A>G, XM_011510132.4:c.712A>G, XM_011510132.3:c.712A>G, XM_011510132.2:c.712A>G, XM_011510132.1:c.712A>G, XM_017002791.3:c.712A>G, XM_017002791.2:c.712A>G, XM_017002791.1:c.712A>G, XM_047433995.1:c.712A>G, XR_007064872.1:n.885A>G, XR_007064873.1:n.885A>G, XM_047434009.1:c.712A>G, NP_004689.1:p.Met238Val, NP_001337458.1:p.Met103Val, XP_011508432.1:p.Met94Val, XP_011508433.1:p.Met238Val, XP_011508434.1:p.Met238Val, XP_016858280.1:p.Met238Val, XP_047289951.1:p.Met238Val, XP_047289965.1:p.Met238Val

Select item 14755064888.

rs1475506488 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:150321545 (GRCh38)
1:150293994 (GRCh37)
Canonical SPDI:: NC_000001.11:150321544:G:C
Gene:: PRPF3 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,5_prime_UTR_variant,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_000001.11:g.150321545G>C, NW_003871055.3:g.7136958G>C, NG_008245.2:g.5079G>C, NG_008245.1:g.5067G>C, NM_004698.4:c.-96G>C, NM_004698.3:c.-96G>C, NM_004698.2:c.-96G>C, NR_146767.1:n.78G>C, NM_001350529.1:c.-597G>C, NR_146769.1:n.78G>C, NR_146766.1:n.78G>C, NR_146768.1:n.78G>C, NC_000001.10:g.150293994G>C, XM_011510131.4:c.-96G>C, XM_011510131.2:c.-96G>C, XM_011510131.1:c.-96G>C, XM_011510132.4:c.-96G>C, XM_011510132.2:c.-96G>C, XM_011510132.1:c.-96G>C, XM_017002791.3:c.-96G>C, XM_017002791.1:c.-96G>C, XM_047433995.1:c.-642G>C, XR_007064872.1:n.78G>C, XR_007064873.1:n.78G>C, XM_047434009.1:c.-96G>C

Select item 14725462909.

rs1472546290 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 1:150335082 (GRCh38)
1:150307553 (GRCh37)
Canonical SPDI:: NC_000001.11:150335081:A:C,NC_000001.11:150335081:A:G
Gene:: PRPF3 (Varview)
Functional Consequence:: synonymous_variant,missense_variant,coding_sequence_variant,non_coding_transcript_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000016/4 (GnomAD_exomes)
G=0.000019/5 (TOPMED)
G=0.000043/6 (GnomAD)
HGVS:: NC_000001.11:g.150335082A>C, NC_000001.11:g.150335082A>G, NW_003871055.3:g.7150495A>C, NW_003871055.3:g.7150495A>G, NG_008245.2:g.18616A>C, NG_008245.2:g.18616A>G, NG_008245.1:g.18626A>C, NG_008245.1:g.18626A>G, NM_004698.4:c.876A>C, NM_004698.4:c.876A>G, NM_004698.3:c.876A>C, NM_004698.3:c.876A>G, NM_004698.2:c.876A>C, NM_004698.2:c.876A>G, NR_146767.1:n.1145A>C, NR_146767.1:n.1145A>G, NM_001350529.1:c.471A>C, NM_001350529.1:c.471A>G, NR_146769.1:n.1049A>C, NR_146769.1:n.1049A>G, NR_146766.1:n.1049A>C, NR_146766.1:n.1049A>G, NR_146768.1:n.1049A>C, NR_146768.1:n.1049A>G, NC_000001.10:g.150307553A>C, NC_000001.10:g.150307553A>G, XM_011510130.4:c.444A>C, XM_011510130.4:c.444A>G, XM_011510130.3:c.444A>C, XM_011510130.3:c.444A>G, XM_011510130.2:c.444A>C, XM_011510130.2:c.444A>G, XM_011510130.1:c.444A>C, XM_011510130.1:c.444A>G, XM_011510131.4:c.876A>C, XM_011510131.4:c.876A>G, XM_011510131.3:c.876A>C, XM_011510131.3:c.876A>G, XM_011510131.2:c.876A>C, XM_011510131.2:c.876A>G, XM_011510131.1:c.876A>C, XM_011510131.1:c.876A>G, XM_011510132.4:c.876A>C, XM_011510132.4:c.876A>G, XM_011510132.3:c.876A>C, XM_011510132.3:c.876A>G, XM_011510132.2:c.876A>C, XM_011510132.2:c.876A>G, XM_011510132.1:c.876A>C, XM_011510132.1:c.876A>G, XM_017002791.3:c.876A>C, XM_017002791.3:c.876A>G, XM_017002791.2:c.876A>C, XM_017002791.2:c.876A>G, XM_017002791.1:c.876A>C, XM_017002791.1:c.876A>G, XM_047433995.1:c.876A>C, XM_047433995.1:c.876A>G, XR_007064872.1:n.1049A>C, XR_007064872.1:n.1049A>G, XR_007064873.1:n.1049A>C, XR_007064873.1:n.1049A>G, XM_047434009.1:c.876A>C, XM_047434009.1:c.876A>G, NP_004689.1:p.Gln292His, NP_001337458.1:p.Gln157His, XP_011508432.1:p.Gln148His, XP_011508433.1:p.Gln292His, XP_011508434.1:p.Gln292His, XP_016858280.1:p.Gln292His, XP_047289951.1:p.Gln292His, XP_047289965.1:p.Gln292His

Select item 147202520010.

rs1472025200 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 1:150352995 (GRCh38)
1:150325471 (GRCh37)
Canonical SPDI:: NC_000001.11:150352994:T:A
Gene:: PRPF3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.150352995T>A, NW_003871055.3:g.7168408T>A, NG_008245.2:g.36529T>A, NG_008245.1:g.36544T>A, NM_004698.4:c.*16T>A, NM_004698.3:c.*16T>A, NM_004698.2:c.*16T>A, NR_146767.1:n.2395T>A, NM_001350529.1:c.*16T>A, NR_146769.1:n.2304T>A, NR_146766.1:n.2299T>A, NR_146768.1:n.2251T>A, NC_000001.10:g.150325471T>A, XM_011510130.4:c.*16T>A, XM_011510130.3:c.*16T>A, XM_011510130.2:c.*16T>A, XM_011510130.1:c.*16T>A, XM_047433995.1:c.*16T>A

Select item 146755359211.

rs1467553592 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:150321564 (GRCh38)
1:150294013 (GRCh37)
Canonical SPDI:: NC_000001.11:150321563:G:C
Gene:: PRPF3 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,5_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.150321564G>C, NW_003871055.3:g.7136977G>C, NG_008245.2:g.5098G>C, NG_008245.1:g.5086G>C, NM_004698.4:c.-77G>C, NM_004698.3:c.-77G>C, NM_004698.2:c.-77G>C, NR_146767.1:n.97G>C, NM_001350529.1:c.-578G>C, NR_146769.1:n.97G>C, NR_146766.1:n.97G>C, NR_146768.1:n.97G>C, NC_000001.10:g.150294013G>C, XM_011510131.4:c.-77G>C, XM_011510131.3:c.-77G>C, XM_011510131.2:c.-77G>C, XM_011510131.1:c.-77G>C, XM_011510132.4:c.-77G>C, XM_011510132.3:c.-77G>C, XM_011510132.2:c.-77G>C, XM_011510132.1:c.-77G>C, XM_017002791.3:c.-77G>C, XM_017002791.2:c.-77G>C, XM_017002791.1:c.-77G>C, XM_047433995.1:c.-623G>C, XR_007064872.1:n.97G>C, XR_007064873.1:n.97G>C, XM_047434009.1:c.-77G>C

Select item 146489811912.

rs1464898119 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:150321528 (GRCh38)
1:150293977 (GRCh37)
Canonical SPDI:: NC_000001.11:150321527:C:G
Gene:: PRPF3 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,non_coding_transcript_variant,upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.150321528C>G, NW_003871055.3:g.7136941C>G, NG_008245.2:g.5062C>G, NG_008245.1:g.5050C>G, NR_146767.1:n.61C>G, NM_001350529.1:c.-614C>G, NR_146769.1:n.61C>G, NR_146766.1:n.61C>G, NR_146768.1:n.61C>G, NC_000001.10:g.150293977C>G, XM_011510131.4:c.-113C>G, XM_011510132.4:c.-113C>G, NM_004698.3:c.-113C>G, XM_017002791.3:c.-113C>G, NM_004698.2:c.-113C>G, XR_007064872.1:n.61C>G, XR_007064873.1:n.61C>G, XM_047434009.1:c.-113C>G

Select item 145983950913.

rs1459839509 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:150321516 (GRCh38)
1:150293965 (GRCh37)
Canonical SPDI:: NC_000001.11:150321515:C:T
Gene:: PRPF3 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,non_coding_transcript_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_000001.11:g.150321516C>T, NW_003871055.3:g.7136929C>T, NG_008245.2:g.5050C>T, NG_008245.1:g.5038C>T, NR_146767.1:n.49C>T, NM_001350529.1:c.-626C>T, NR_146769.1:n.49C>T, NR_146766.1:n.49C>T, NR_146768.1:n.49C>T, NC_000001.10:g.150293965C>T, XM_011510131.4:c.-125C>T, XM_011510132.4:c.-125C>T, NM_004698.3:c.-125C>T, XM_017002791.3:c.-125C>T, NM_004698.2:c.-125C>T, XR_007064872.1:n.49C>T, XR_007064873.1:n.49C>T, XM_047434009.1:c.-125C>T

Select item 145974951514.

rs1459749515 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:150321490 (GRCh38)
1:150293939 (GRCh37)
Canonical SPDI:: NC_000001.11:150321489:G:A
Gene:: PRPF3 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,non_coding_transcript_variant,upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.150321490G>A, NW_003871055.3:g.7136903G>A, NG_008245.2:g.5024G>A, NG_008245.1:g.5012G>A, NR_146767.1:n.23G>A, NM_001350529.1:c.-652G>A, NR_146769.1:n.23G>A, NR_146766.1:n.23G>A, NR_146768.1:n.23G>A, NC_000001.10:g.150293939G>A, XM_011510131.4:c.-151G>A, XM_011510132.4:c.-151G>A, NM_004698.3:c.-151G>A, XM_017002791.3:c.-151G>A, NM_004698.2:c.-151G>A, XR_007064872.1:n.23G>A, XR_007064873.1:n.23G>A, XM_047434009.1:c.-151G>A

Select item 145926723215.

rs1459267232 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 1:150327562 (GRCh38)
1:150300021 (GRCh37)
Canonical SPDI:: NC_000001.11:150327561:CC:C
Gene:: PRPF3 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0.000071/1 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.150327563del, NW_003871055.3:g.7142976del, NG_008245.2:g.11097del, NG_008245.1:g.11095del, NR_146767.1:n.456del, NM_001350529.1:c.-219del, NC_000001.10:g.150300022del

Select item 145694254116.

rs1456942541 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 1:150346065 (GRCh38)
1:150318541 (GRCh37)
Canonical SPDI:: NC_000001.11:150346064:A:G,NC_000001.11:150346064:A:T
Gene:: PRPF3 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,intron_variant,missense_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.150346065A>G, NC_000001.11:g.150346065A>T, NW_003871055.3:g.7161478A>G, NW_003871055.3:g.7161478A>T, NG_008245.2:g.29599A>G, NG_008245.2:g.29599A>T, NG_008245.1:g.29614A>G, NG_008245.1:g.29614A>T, NM_004698.4:c.1688A>G, NM_004698.4:c.1688A>T, NM_004698.3:c.1688A>G, NM_004698.3:c.1688A>T, NM_004698.2:c.1688A>G, NM_004698.2:c.1688A>T, NR_146767.1:n.2015A>G, NR_146767.1:n.2015A>T, NM_001350529.1:c.1283A>G, NM_001350529.1:c.1283A>T, NR_146769.1:n.1914A>G, NR_146769.1:n.1914A>T, NR_146766.1:n.1919A>G, NR_146766.1:n.1919A>T, NR_146768.1:n.1861A>G, NR_146768.1:n.1861A>T, NC_000001.10:g.150318541A>G, NC_000001.10:g.150318541A>T, XM_011510130.4:c.1256A>G, XM_011510130.4:c.1256A>T, XM_011510130.3:c.1256A>G, XM_011510130.3:c.1256A>T, XM_011510130.2:c.1256A>G, XM_011510130.2:c.1256A>T, XM_011510130.1:c.1256A>G, XM_011510130.1:c.1256A>T, XM_047433995.1:c.1688A>G, XM_047433995.1:c.1688A>T, NP_004689.1:p.Asn563Ser, NP_004689.1:p.Asn563Ile, NP_001337458.1:p.Asn428Ser, NP_001337458.1:p.Asn428Ile, XP_011508432.1:p.Asn419Ser, XP_011508432.1:p.Asn419Ile, XP_047289951.1:p.Asn563Ser, XP_047289951.1:p.Asn563Ile

Select item 145627401117.

rs1456274011 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:150353126 (GRCh38)
1:150325602 (GRCh37)
Canonical SPDI:: NC_000001.11:150353125:C:G
Gene:: PRPF3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.150353126C>G, NW_003871055.3:g.7168539C>G, NG_008245.2:g.36660C>G, NG_008245.1:g.36675C>G, NM_004698.4:c.*147C>G, NM_004698.3:c.*147C>G, NM_004698.2:c.*147C>G, NR_146767.1:n.2526C>G, NM_001350529.1:c.*147C>G, NR_146769.1:n.2435C>G, NR_146766.1:n.2430C>G, NR_146768.1:n.2382C>G, NC_000001.10:g.150325602C>G, XM_011510130.4:c.*147C>G, XM_011510130.3:c.*147C>G, XM_011510130.2:c.*147C>G, XM_011510130.1:c.*147C>G, XM_047433995.1:c.*147C>G

Select item 145600183618.

rs1456001836 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:150353227 (GRCh38)
1:150325703 (GRCh37)
Canonical SPDI:: NC_000001.11:150353226:T:C
Gene:: PRPF3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.150353227T>C, NW_003871055.3:g.7168640T>C, NG_008245.2:g.36761T>C, NG_008245.1:g.36776T>C, NM_004698.4:c.*248T>C, NM_004698.3:c.*248T>C, NM_004698.2:c.*248T>C, NR_146767.1:n.2627T>C, NM_001350529.1:c.*248T>C, NR_146769.1:n.2536T>C, NR_146766.1:n.2531T>C, NR_146768.1:n.2483T>C, NC_000001.10:g.150325703T>C, XM_011510130.4:c.*248T>C, XM_047433995.1:c.*248T>C

Select item 145410886419.

rs1454108864 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:150332756 (GRCh38)
1:150305227 (GRCh37)
Canonical SPDI:: NC_000001.11:150332755:C:G
Gene:: PRPF3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.150332756C>G, NW_003871055.3:g.7148169C>G, NG_008245.2:g.16290C>G, NG_008245.1:g.16300C>G, NM_004698.4:c.496C>G, NM_004698.3:c.496C>G, NM_004698.2:c.496C>G, NR_146767.1:n.765C>G, NM_001350529.1:c.91C>G, NR_146769.1:n.669C>G, NR_146766.1:n.669C>G, NR_146768.1:n.669C>G, NC_000001.10:g.150305227C>G, XM_011510130.4:c.64C>G, XM_011510130.3:c.64C>G, XM_011510130.2:c.64C>G, XM_011510130.1:c.64C>G, XM_011510131.4:c.496C>G, XM_011510131.3:c.496C>G, XM_011510131.2:c.496C>G, XM_011510131.1:c.496C>G, XM_011510132.4:c.496C>G, XM_011510132.3:c.496C>G, XM_011510132.2:c.496C>G, XM_011510132.1:c.496C>G, XM_017002791.3:c.496C>G, XM_017002791.2:c.496C>G, XM_017002791.1:c.496C>G, XM_047433995.1:c.496C>G, XR_007064872.1:n.669C>G, XR_007064873.1:n.669C>G, XM_047434009.1:c.496C>G, NP_004689.1:p.Pro166Ala, NP_001337458.1:p.Pro31Ala, XP_011508432.1:p.Pro22Ala, XP_011508433.1:p.Pro166Ala, XP_011508434.1:p.Pro166Ala, XP_016858280.1:p.Pro166Ala, XP_047289951.1:p.Pro166Ala, XP_047289965.1:p.Pro166Ala

Select item 145243322320.

rs1452433223 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:150340453 (GRCh38)
1:150312929 (GRCh37)
Canonical SPDI:: NC_000001.11:150340452:C:T
Gene:: PRPF3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,3_prime_UTR_variant,non_coding_transcript_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.150340453C>T, NW_003871055.3:g.7155866C>T, NG_008245.2:g.23987C>T, NG_008245.1:g.24002C>T, NM_004698.4:c.1258C>T, NM_004698.3:c.1258C>T, NM_004698.2:c.1258C>T, NR_146767.1:n.1527C>T, NM_001350529.1:c.853C>T, NR_146769.1:n.1426C>T, NR_146766.1:n.1431C>T, NR_146768.1:n.1431C>T, NC_000001.10:g.150312929C>T, XM_011510130.4:c.826C>T, XM_011510130.3:c.826C>T, XM_011510130.2:c.826C>T, XM_011510130.1:c.826C>T, XM_011510131.4:c.1258C>T, XM_011510131.3:c.1258C>T, XM_011510131.2:c.1258C>T, XM_011510131.1:c.1258C>T, XM_011510132.4:c.*2C>T, XM_011510132.3:c.*2C>T, XM_011510132.2:c.*2C>T, XM_011510132.1:c.*2C>T, XM_017002791.3:c.*2C>T, XM_017002791.2:c.*2C>T, XM_017002791.1:c.*2C>T, XM_047433995.1:c.1258C>T, XR_007064872.1:n.1431C>T, XR_007064873.1:n.1431C>T, XM_047434009.1:c.*2C>T, NP_004689.1:p.His420Tyr, NP_001337458.1:p.His285Tyr, XP_011508432.1:p.His276Tyr, XP_011508433.1:p.His420Tyr, XP_047289951.1:p.His420Tyr

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