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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

All alleles are reported in the Forward orientation. Click on the Variant Details tab for details on Genomic Placement, Gene, and Amino Acid changes. HGVS names are in the HGVS tab.

Reference SNP (rs) Report

This page reports data for a single dbSNP Reference SNP variation (RefSNP or rs) from the new redesigned dbSNP build.
Top of the page reports a concise summary for the rs, with more specific details included in the corresponding tabs below.
All alleles are reported in the Forward orientation. Use the Genomic View to inspect the nucleotides flanking the variant, and its neighbors.
For more information see Help documentation.

rs67153822

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr9:97370951-97370974 (GRCh38.p14) Help

The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.

Alleles
del(T)13 / del(T)12 / del(T)11 / d…

del(T)13 / del(T)12 / del(T)11 / del(T)10 / del(T)9 / del(T)8 / del(T)7 / del(T)6 / del(T)5 / del(T)4 / delTTT / delTT / delT / dupT / dupTT / dupTTT / dup(T)4 / dup(T)5 / dup(T)6 / dup(T)7 / dup(T)8 / dup(T)9 / dup(T)10 / dup(T)11 / dup(T)14

Variation Type
Indel Insertion and Deletion
Frequency
dupT=0.4466 (2167/4852, ALFA)
(T)24=0.23 (9/40, GENOME_DK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
CCDC180 : Intron Variant
SUGT1P4-STRA6LP-CCDC180 : Intron Variant
Publications
0 citations
Genomic View
See rs on genome

ALFA Allele Frequency
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.

Release Version: 20231103111315
Population Group Sample Size Ref Allele Alt Allele Ref HMOZ Alt HMOZ HTRZ HWEP
Total Global 4852 TTTTTTTTTTTTTTTTTTTTTTTT=0.4878 TTTTTTTTTTT=0.0000, TTTTTTTTTTTT=0.0000, TTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTT=0.4466, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0194, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.0334, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0043, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0041, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0043, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000 0.48954 0.406788 0.103673 32
European Sub 4618 TTTTTTTTTTTTTTTTTTTTTTTT=0.4634 TTTTTTTTTTT=0.0000, TTTTTTTTTTTT=0.0000, TTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTT=0.4680, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0204, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.0349, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0045, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0043, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0045, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000 0.461916 0.428993 0.109091 32
African Sub 174 TTTTTTTTTTTTTTTTTTTTTTTT=1.000 TTTTTTTTTTT=0.000, TTTTTTTTTTTT=0.000, TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000 1.0 0.0 0.0 N/A
African Others Sub 12 TTTTTTTTTTTTTTTTTTTTTTTT=1.00 TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00 1.0 0.0 0.0 N/A
African American Sub 162 TTTTTTTTTTTTTTTTTTTTTTTT=1.000 TTTTTTTTTTT=0.000, TTTTTTTTTTTT=0.000, TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000 1.0 0.0 0.0 N/A
Asian Sub 8 TTTTTTTTTTTTTTTTTTTTTTTT=1.0 TTTTTTTTTTT=0.0, TTTTTTTTTTTT=0.0, TTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0 1.0 0.0 0.0 N/A
East Asian Sub 8 TTTTTTTTTTTTTTTTTTTTTTTT=1.0 TTTTTTTTTTT=0.0, TTTTTTTTTTTT=0.0, TTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0 1.0 0.0 0.0 N/A
Other Asian Sub 0 TTTTTTTTTTTTTTTTTTTTTTTT=0 TTTTTTTTTTT=0, TTTTTTTTTTTT=0, TTTTTTTTTTTTT=0, TTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0 0 0 0 N/A
Latin American 1 Sub 8 TTTTTTTTTTTTTTTTTTTTTTTT=1.0 TTTTTTTTTTT=0.0, TTTTTTTTTTTT=0.0, TTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0 1.0 0.0 0.0 N/A
Latin American 2 Sub 16 TTTTTTTTTTTTTTTTTTTTTTTT=1.00 TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00 1.0 0.0 0.0 N/A
South Asian Sub 2 TTTTTTTTTTTTTTTTTTTTTTTT=1.0 TTTTTTTTTTT=0.0, TTTTTTTTTTTT=0.0, TTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0 1.0 0.0 0.0 N/A
Other Sub 26 TTTTTTTTTTTTTTTTTTTTTTTT=0.73 TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.23, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.04, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00 0.75 0.166667 0.083333 4


Help

Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").

Download
Study Population Group Sample Size Ref Allele Alt Allele
Allele Frequency Aggregator Total Global 4852 (T)24=0.4878 del(T)13=0.0000, del(T)12=0.0000, del(T)11=0.0000, del(T)10=0.0000, del(T)9=0.0000, del(T)8=0.0000, del(T)7=0.0000, del(T)6=0.0000, del(T)5=0.0000, del(T)4=0.0000, delTTT=0.0000, delTT=0.0000, delT=0.0000, dupT=0.4466, dupTT=0.0334, dupTTT=0.0194, dup(T)4=0.0043, dup(T)6=0.0000, dup(T)7=0.0041, dup(T)9=0.0043
Allele Frequency Aggregator European Sub 4618 (T)24=0.4634 del(T)13=0.0000, del(T)12=0.0000, del(T)11=0.0000, del(T)10=0.0000, del(T)9=0.0000, del(T)8=0.0000, del(T)7=0.0000, del(T)6=0.0000, del(T)5=0.0000, del(T)4=0.0000, delTTT=0.0000, delTT=0.0000, delT=0.0000, dupT=0.4680, dupTT=0.0349, dupTTT=0.0204, dup(T)4=0.0045, dup(T)6=0.0000, dup(T)7=0.0043, dup(T)9=0.0045
Allele Frequency Aggregator African Sub 174 (T)24=1.000 del(T)13=0.000, del(T)12=0.000, del(T)11=0.000, del(T)10=0.000, del(T)9=0.000, del(T)8=0.000, del(T)7=0.000, del(T)6=0.000, del(T)5=0.000, del(T)4=0.000, delTTT=0.000, delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.000, dupTTT=0.000, dup(T)4=0.000, dup(T)6=0.000, dup(T)7=0.000, dup(T)9=0.000
Allele Frequency Aggregator Other Sub 26 (T)24=0.73 del(T)13=0.00, del(T)12=0.00, del(T)11=0.00, del(T)10=0.00, del(T)9=0.00, del(T)8=0.00, del(T)7=0.00, del(T)6=0.00, del(T)5=0.00, del(T)4=0.00, delTTT=0.00, delTT=0.00, delT=0.00, dupT=0.23, dupTT=0.04, dupTTT=0.00, dup(T)4=0.00, dup(T)6=0.00, dup(T)7=0.00, dup(T)9=0.00
Allele Frequency Aggregator Latin American 2 Sub 16 (T)24=1.00 del(T)13=0.00, del(T)12=0.00, del(T)11=0.00, del(T)10=0.00, del(T)9=0.00, del(T)8=0.00, del(T)7=0.00, del(T)6=0.00, del(T)5=0.00, del(T)4=0.00, delTTT=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dupTTT=0.00, dup(T)4=0.00, dup(T)6=0.00, dup(T)7=0.00, dup(T)9=0.00
Allele Frequency Aggregator Latin American 1 Sub 8 (T)24=1.0 del(T)13=0.0, del(T)12=0.0, del(T)11=0.0, del(T)10=0.0, del(T)9=0.0, del(T)8=0.0, del(T)7=0.0, del(T)6=0.0, del(T)5=0.0, del(T)4=0.0, delTTT=0.0, delTT=0.0, delT=0.0, dupT=0.0, dupTT=0.0, dupTTT=0.0, dup(T)4=0.0, dup(T)6=0.0, dup(T)7=0.0, dup(T)9=0.0
Allele Frequency Aggregator Asian Sub 8 (T)24=1.0 del(T)13=0.0, del(T)12=0.0, del(T)11=0.0, del(T)10=0.0, del(T)9=0.0, del(T)8=0.0, del(T)7=0.0, del(T)6=0.0, del(T)5=0.0, del(T)4=0.0, delTTT=0.0, delTT=0.0, delT=0.0, dupT=0.0, dupTT=0.0, dupTTT=0.0, dup(T)4=0.0, dup(T)6=0.0, dup(T)7=0.0, dup(T)9=0.0
Allele Frequency Aggregator South Asian Sub 2 (T)24=1.0 del(T)13=0.0, del(T)12=0.0, del(T)11=0.0, del(T)10=0.0, del(T)9=0.0, del(T)8=0.0, del(T)7=0.0, del(T)6=0.0, del(T)5=0.0, del(T)4=0.0, delTTT=0.0, delTT=0.0, delT=0.0, dupT=0.0, dupTT=0.0, dupTTT=0.0, dup(T)4=0.0, dup(T)6=0.0, dup(T)7=0.0, dup(T)9=0.0
The Danish reference pan genome Danish Study-wide 40 -

No frequency provided

dupT=0.78
Help

Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.

Genomic Placements
Sequence name Change
GRCh38.p14 chr 9 NC_000009.12:g.97370962_97370974del
GRCh38.p14 chr 9 NC_000009.12:g.97370963_97370974del
GRCh38.p14 chr 9 NC_000009.12:g.97370964_97370974del
GRCh38.p14 chr 9 NC_000009.12:g.97370965_97370974del
GRCh38.p14 chr 9 NC_000009.12:g.97370966_97370974del
GRCh38.p14 chr 9 NC_000009.12:g.97370967_97370974del
GRCh38.p14 chr 9 NC_000009.12:g.97370968_97370974del
GRCh38.p14 chr 9 NC_000009.12:g.97370969_97370974del
GRCh38.p14 chr 9 NC_000009.12:g.97370970_97370974del
GRCh38.p14 chr 9 NC_000009.12:g.97370971_97370974del
GRCh38.p14 chr 9 NC_000009.12:g.97370972_97370974del
GRCh38.p14 chr 9 NC_000009.12:g.97370973_97370974del
GRCh38.p14 chr 9 NC_000009.12:g.97370974del
GRCh38.p14 chr 9 NC_000009.12:g.97370974dup
GRCh38.p14 chr 9 NC_000009.12:g.97370973_97370974dup
GRCh38.p14 chr 9 NC_000009.12:g.97370972_97370974dup
GRCh38.p14 chr 9 NC_000009.12:g.97370971_97370974dup
GRCh38.p14 chr 9 NC_000009.12:g.97370970_97370974dup
GRCh38.p14 chr 9 NC_000009.12:g.97370969_97370974dup
GRCh38.p14 chr 9 NC_000009.12:g.97370968_97370974dup
GRCh38.p14 chr 9 NC_000009.12:g.97370967_97370974dup
GRCh38.p14 chr 9 NC_000009.12:g.97370966_97370974dup
GRCh38.p14 chr 9 NC_000009.12:g.97370965_97370974dup
GRCh38.p14 chr 9 NC_000009.12:g.97370964_97370974dup
GRCh38.p14 chr 9 NC_000009.12:g.97370961_97370974dup
GRCh37.p13 chr 9 NC_000009.11:g.100133244_100133256del
GRCh37.p13 chr 9 NC_000009.11:g.100133245_100133256del
GRCh37.p13 chr 9 NC_000009.11:g.100133246_100133256del
GRCh37.p13 chr 9 NC_000009.11:g.100133247_100133256del
GRCh37.p13 chr 9 NC_000009.11:g.100133248_100133256del
GRCh37.p13 chr 9 NC_000009.11:g.100133249_100133256del
GRCh37.p13 chr 9 NC_000009.11:g.100133250_100133256del
GRCh37.p13 chr 9 NC_000009.11:g.100133251_100133256del
GRCh37.p13 chr 9 NC_000009.11:g.100133252_100133256del
GRCh37.p13 chr 9 NC_000009.11:g.100133253_100133256del
GRCh37.p13 chr 9 NC_000009.11:g.100133254_100133256del
GRCh37.p13 chr 9 NC_000009.11:g.100133255_100133256del
GRCh37.p13 chr 9 NC_000009.11:g.100133256del
GRCh37.p13 chr 9 NC_000009.11:g.100133256dup
GRCh37.p13 chr 9 NC_000009.11:g.100133255_100133256dup
GRCh37.p13 chr 9 NC_000009.11:g.100133254_100133256dup
GRCh37.p13 chr 9 NC_000009.11:g.100133253_100133256dup
GRCh37.p13 chr 9 NC_000009.11:g.100133252_100133256dup
GRCh37.p13 chr 9 NC_000009.11:g.100133251_100133256dup
GRCh37.p13 chr 9 NC_000009.11:g.100133250_100133256dup
GRCh37.p13 chr 9 NC_000009.11:g.100133249_100133256dup
GRCh37.p13 chr 9 NC_000009.11:g.100133248_100133256dup
GRCh37.p13 chr 9 NC_000009.11:g.100133247_100133256dup
GRCh37.p13 chr 9 NC_000009.11:g.100133246_100133256dup
GRCh37.p13 chr 9 NC_000009.11:g.100133243_100133256dup
CCDC180 RefSeqGene NG_052792.1:g.68659_68671del
CCDC180 RefSeqGene NG_052792.1:g.68660_68671del
CCDC180 RefSeqGene NG_052792.1:g.68661_68671del
CCDC180 RefSeqGene NG_052792.1:g.68662_68671del
CCDC180 RefSeqGene NG_052792.1:g.68663_68671del
CCDC180 RefSeqGene NG_052792.1:g.68664_68671del
CCDC180 RefSeqGene NG_052792.1:g.68665_68671del
CCDC180 RefSeqGene NG_052792.1:g.68666_68671del
CCDC180 RefSeqGene NG_052792.1:g.68667_68671del
CCDC180 RefSeqGene NG_052792.1:g.68668_68671del
CCDC180 RefSeqGene NG_052792.1:g.68669_68671del
CCDC180 RefSeqGene NG_052792.1:g.68670_68671del
CCDC180 RefSeqGene NG_052792.1:g.68671del
CCDC180 RefSeqGene NG_052792.1:g.68671dup
CCDC180 RefSeqGene NG_052792.1:g.68670_68671dup
CCDC180 RefSeqGene NG_052792.1:g.68669_68671dup
CCDC180 RefSeqGene NG_052792.1:g.68668_68671dup
CCDC180 RefSeqGene NG_052792.1:g.68667_68671dup
CCDC180 RefSeqGene NG_052792.1:g.68666_68671dup
CCDC180 RefSeqGene NG_052792.1:g.68665_68671dup
CCDC180 RefSeqGene NG_052792.1:g.68664_68671dup
CCDC180 RefSeqGene NG_052792.1:g.68663_68671dup
CCDC180 RefSeqGene NG_052792.1:g.68662_68671dup
CCDC180 RefSeqGene NG_052792.1:g.68661_68671dup
CCDC180 RefSeqGene NG_052792.1:g.68658_68671dup
Gene: CCDC180, coiled-coil domain containing 180 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
CCDC180 transcript variant 1 NM_020893.6:c.4488+184_44…

NM_020893.6:c.4488+184_4488+196del

N/A Intron Variant
CCDC180 transcript variant 2 NM_001348010.4:c. N/A Genic Downstream Transcript Variant
Gene: SUGT1P4-STRA6LP-CCDC180, SUGT1P4-STRA6LP-CCDC180 readthrough (plus strand)
Molecule type Change Amino acid[Codon] SO Term
SUGT1P4-STRA6LP-CCDC180 transcript variant 2 NR_036527.1:n. N/A Intron Variant
SUGT1P4-STRA6LP-CCDC180 transcript variant 1 NR_036528.1:n. N/A Intron Variant
SUGT1P4-STRA6LP-CCDC180 transcript variant 3 NR_036529.1:n. N/A Intron Variant
Help

Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.

Not Reported in ClinVar
Help

Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".

Placement (T)24= del(T)13 del(T)12 del(T)11 del(T)10 del(T)9 del(T)8 del(T)7 del(T)6 del(T)5 del(T)4 delTTT delTT delT dupT dupTT dupTTT dup(T)4 dup(T)5 dup(T)6 dup(T)7 dup(T)8 dup(T)9 dup(T)10 dup(T)11 dup(T)14
GRCh38.p14 chr 9 NC_000009.12:g.97370951_97370974= NC_000009.12:g.97370962_97370974del NC_000009.12:g.97370963_97370974del NC_000009.12:g.97370964_97370974del NC_000009.12:g.97370965_97370974del NC_000009.12:g.97370966_97370974del NC_000009.12:g.97370967_97370974del NC_000009.12:g.97370968_97370974del NC_000009.12:g.97370969_97370974del NC_000009.12:g.97370970_97370974del NC_000009.12:g.97370971_97370974del NC_000009.12:g.97370972_97370974del NC_000009.12:g.97370973_97370974del NC_000009.12:g.97370974del NC_000009.12:g.97370974dup NC_000009.12:g.97370973_97370974dup NC_000009.12:g.97370972_97370974dup NC_000009.12:g.97370971_97370974dup NC_000009.12:g.97370970_97370974dup NC_000009.12:g.97370969_97370974dup NC_000009.12:g.97370968_97370974dup NC_000009.12:g.97370967_97370974dup NC_000009.12:g.97370966_97370974dup NC_000009.12:g.97370965_97370974dup NC_000009.12:g.97370964_97370974dup NC_000009.12:g.97370961_97370974dup
GRCh37.p13 chr 9 NC_000009.11:g.100133233_100133256= NC_000009.11:g.100133244_100133256del NC_000009.11:g.100133245_100133256del NC_000009.11:g.100133246_100133256del NC_000009.11:g.100133247_100133256del NC_000009.11:g.100133248_100133256del NC_000009.11:g.100133249_100133256del NC_000009.11:g.100133250_100133256del NC_000009.11:g.100133251_100133256del NC_000009.11:g.100133252_100133256del NC_000009.11:g.100133253_100133256del NC_000009.11:g.100133254_100133256del NC_000009.11:g.100133255_100133256del NC_000009.11:g.100133256del NC_000009.11:g.100133256dup NC_000009.11:g.100133255_100133256dup NC_000009.11:g.100133254_100133256dup NC_000009.11:g.100133253_100133256dup NC_000009.11:g.100133252_100133256dup NC_000009.11:g.100133251_100133256dup NC_000009.11:g.100133250_100133256dup NC_000009.11:g.100133249_100133256dup NC_000009.11:g.100133248_100133256dup NC_000009.11:g.100133247_100133256dup NC_000009.11:g.100133246_100133256dup NC_000009.11:g.100133243_100133256dup
CCDC180 RefSeqGene NG_052792.1:g.68648_68671= NG_052792.1:g.68659_68671del NG_052792.1:g.68660_68671del NG_052792.1:g.68661_68671del NG_052792.1:g.68662_68671del NG_052792.1:g.68663_68671del NG_052792.1:g.68664_68671del NG_052792.1:g.68665_68671del NG_052792.1:g.68666_68671del NG_052792.1:g.68667_68671del NG_052792.1:g.68668_68671del NG_052792.1:g.68669_68671del NG_052792.1:g.68670_68671del NG_052792.1:g.68671del NG_052792.1:g.68671dup NG_052792.1:g.68670_68671dup NG_052792.1:g.68669_68671dup NG_052792.1:g.68668_68671dup NG_052792.1:g.68667_68671dup NG_052792.1:g.68666_68671dup NG_052792.1:g.68665_68671dup NG_052792.1:g.68664_68671dup NG_052792.1:g.68663_68671dup NG_052792.1:g.68662_68671dup NG_052792.1:g.68661_68671dup NG_052792.1:g.68658_68671dup
CCDC180 transcript NM_020893.2:c.4620+173= NM_020893.2:c.4620+184_4620+196del NM_020893.2:c.4620+185_4620+196del NM_020893.2:c.4620+186_4620+196del NM_020893.2:c.4620+187_4620+196del NM_020893.2:c.4620+188_4620+196del NM_020893.2:c.4620+189_4620+196del NM_020893.2:c.4620+190_4620+196del NM_020893.2:c.4620+191_4620+196del NM_020893.2:c.4620+192_4620+196del NM_020893.2:c.4620+193_4620+196del NM_020893.2:c.4620+194_4620+196del NM_020893.2:c.4620+195_4620+196del NM_020893.2:c.4620+196del NM_020893.2:c.4620+196dup NM_020893.2:c.4620+195_4620+196dup NM_020893.2:c.4620+194_4620+196dup NM_020893.2:c.4620+193_4620+196dup NM_020893.2:c.4620+192_4620+196dup NM_020893.2:c.4620+191_4620+196dup NM_020893.2:c.4620+190_4620+196dup NM_020893.2:c.4620+189_4620+196dup NM_020893.2:c.4620+188_4620+196dup NM_020893.2:c.4620+187_4620+196dup NM_020893.2:c.4620+186_4620+196dup NM_020893.2:c.4620+183_4620+196dup
CCDC180 transcript variant 1 NM_020893.6:c.4488+173= NM_020893.6:c.4488+184_4488+196del NM_020893.6:c.4488+185_4488+196del NM_020893.6:c.4488+186_4488+196del NM_020893.6:c.4488+187_4488+196del NM_020893.6:c.4488+188_4488+196del NM_020893.6:c.4488+189_4488+196del NM_020893.6:c.4488+190_4488+196del NM_020893.6:c.4488+191_4488+196del NM_020893.6:c.4488+192_4488+196del NM_020893.6:c.4488+193_4488+196del NM_020893.6:c.4488+194_4488+196del NM_020893.6:c.4488+195_4488+196del NM_020893.6:c.4488+196del NM_020893.6:c.4488+196dup NM_020893.6:c.4488+195_4488+196dup NM_020893.6:c.4488+194_4488+196dup NM_020893.6:c.4488+193_4488+196dup NM_020893.6:c.4488+192_4488+196dup NM_020893.6:c.4488+191_4488+196dup NM_020893.6:c.4488+190_4488+196dup NM_020893.6:c.4488+189_4488+196dup NM_020893.6:c.4488+188_4488+196dup NM_020893.6:c.4488+187_4488+196dup NM_020893.6:c.4488+186_4488+196dup NM_020893.6:c.4488+183_4488+196dup
Help

Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.

58 SubSNP, 35 Frequency submissions
No Submitter Submission ID Date (Build)
1 HUMANGENOME_JCVI ss95521945 Feb 13, 2009 (137)
2 HUMANGENOME_JCVI ss97764249 Feb 13, 2009 (137)
3 PJP ss295430131 May 09, 2011 (135)
4 PJP ss295430132 May 09, 2011 (137)
5 EVA_GENOME_DK ss1577427448 Apr 01, 2015 (144)
6 EVA_UK10K_ALSPAC ss1706487694 Apr 01, 2015 (144)
7 EVA_UK10K_ALSPAC ss1706487695 Apr 01, 2015 (144)
8 EVA_UK10K_TWINSUK ss1706488069 Apr 01, 2015 (144)
9 EVA_UK10K_TWINSUK ss1706488072 Apr 01, 2015 (144)
10 SWEGEN ss3005289411 Nov 08, 2017 (151)
11 SWEGEN ss3005289412 Nov 08, 2017 (151)
12 SWEGEN ss3005289413 Nov 08, 2017 (151)
13 MCHAISSO ss3065237410 Nov 08, 2017 (151)
14 PACBIO ss3791680969 Jul 13, 2019 (153)
15 PACBIO ss3796562409 Jul 13, 2019 (153)
16 EVA ss3831762968 Apr 26, 2020 (154)
17 GNOMAD ss4206237631 Apr 26, 2021 (155)
18 GNOMAD ss4206237632 Apr 26, 2021 (155)
19 GNOMAD ss4206237633 Apr 26, 2021 (155)
20 GNOMAD ss4206237634 Apr 26, 2021 (155)
21 GNOMAD ss4206237635 Apr 26, 2021 (155)
22 GNOMAD ss4206237636 Apr 26, 2021 (155)
23 GNOMAD ss4206237637 Apr 26, 2021 (155)
24 GNOMAD ss4206237638 Apr 26, 2021 (155)
25 GNOMAD ss4206237639 Apr 26, 2021 (155)
26 GNOMAD ss4206237640 Apr 26, 2021 (155)
27 GNOMAD ss4206237642 Apr 26, 2021 (155)
28 GNOMAD ss4206237643 Apr 26, 2021 (155)
29 GNOMAD ss4206237644 Apr 26, 2021 (155)
30 GNOMAD ss4206237645 Apr 26, 2021 (155)
31 GNOMAD ss4206237646 Apr 26, 2021 (155)
32 GNOMAD ss4206237647 Apr 26, 2021 (155)
33 GNOMAD ss4206237648 Apr 26, 2021 (155)
34 GNOMAD ss4206237649 Apr 26, 2021 (155)
35 GNOMAD ss4206237650 Apr 26, 2021 (155)
36 GNOMAD ss4206237651 Apr 26, 2021 (155)
37 GNOMAD ss4206237652 Apr 26, 2021 (155)
38 TOMMO_GENOMICS ss5194460653 Apr 26, 2021 (155)
39 TOMMO_GENOMICS ss5194460654 Apr 26, 2021 (155)
40 TOMMO_GENOMICS ss5194460655 Apr 26, 2021 (155)
41 TOMMO_GENOMICS ss5194460656 Apr 26, 2021 (155)
42 1000G_HIGH_COVERAGE ss5281531794 Oct 13, 2022 (156)
43 1000G_HIGH_COVERAGE ss5281531795 Oct 13, 2022 (156)
44 1000G_HIGH_COVERAGE ss5281531796 Oct 13, 2022 (156)
45 1000G_HIGH_COVERAGE ss5281531797 Oct 13, 2022 (156)
46 1000G_HIGH_COVERAGE ss5281531798 Oct 13, 2022 (156)
47 HUGCELL_USP ss5477460429 Oct 13, 2022 (156)
48 HUGCELL_USP ss5477460430 Oct 13, 2022 (156)
49 HUGCELL_USP ss5477460431 Oct 13, 2022 (156)
50 SANFORD_IMAGENETICS ss5647898787 Oct 13, 2022 (156)
51 TOMMO_GENOMICS ss5738746658 Oct 13, 2022 (156)
52 TOMMO_GENOMICS ss5738746659 Oct 13, 2022 (156)
53 TOMMO_GENOMICS ss5738746660 Oct 13, 2022 (156)
54 TOMMO_GENOMICS ss5738746661 Oct 13, 2022 (156)
55 EVA ss5829491627 Oct 13, 2022 (156)
56 EVA ss5829491628 Oct 13, 2022 (156)
57 EVA ss5829491629 Oct 13, 2022 (156)
58 EVA ss5856855947 Oct 13, 2022 (156)
59 The Avon Longitudinal Study of Parents and Children

Submission ignored due to conflicting rows:
Row 26108280 (NC_000009.11:100133232::TT 1774/3854)
Row 26108281 (NC_000009.11:100133232::TTT 1475/3854)

- Oct 12, 2018 (152)
60 The Avon Longitudinal Study of Parents and Children

Submission ignored due to conflicting rows:
Row 26108280 (NC_000009.11:100133232::TT 1774/3854)
Row 26108281 (NC_000009.11:100133232::TTT 1475/3854)

- Oct 12, 2018 (152)
61 The Danish reference pan genome NC_000009.11 - 100133233 Apr 26, 2020 (154)
62 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 332302389 (NC_000009.12:97370950::T 59050/81516)
Row 332302390 (NC_000009.12:97370950::TTTT 573/81280)
Row 332302391 (NC_000009.12:97370950::TTTTT 110/81308)...

- Apr 26, 2021 (155)
63 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 332302389 (NC_000009.12:97370950::T 59050/81516)
Row 332302390 (NC_000009.12:97370950::TTTT 573/81280)
Row 332302391 (NC_000009.12:97370950::TTTTT 110/81308)...

- Apr 26, 2021 (155)
64 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 332302389 (NC_000009.12:97370950::T 59050/81516)
Row 332302390 (NC_000009.12:97370950::TTTT 573/81280)
Row 332302391 (NC_000009.12:97370950::TTTTT 110/81308)...

- Apr 26, 2021 (155)
65 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 332302389 (NC_000009.12:97370950::T 59050/81516)
Row 332302390 (NC_000009.12:97370950::TTTT 573/81280)
Row 332302391 (NC_000009.12:97370950::TTTTT 110/81308)...

- Apr 26, 2021 (155)
66 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 332302389 (NC_000009.12:97370950::T 59050/81516)
Row 332302390 (NC_000009.12:97370950::TTTT 573/81280)
Row 332302391 (NC_000009.12:97370950::TTTTT 110/81308)...

- Apr 26, 2021 (155)
67 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 332302389 (NC_000009.12:97370950::T 59050/81516)
Row 332302390 (NC_000009.12:97370950::TTTT 573/81280)
Row 332302391 (NC_000009.12:97370950::TTTTT 110/81308)...

- Apr 26, 2021 (155)
68 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 332302389 (NC_000009.12:97370950::T 59050/81516)
Row 332302390 (NC_000009.12:97370950::TTTT 573/81280)
Row 332302391 (NC_000009.12:97370950::TTTTT 110/81308)...

- Apr 26, 2021 (155)
69 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 332302389 (NC_000009.12:97370950::T 59050/81516)
Row 332302390 (NC_000009.12:97370950::TTTT 573/81280)
Row 332302391 (NC_000009.12:97370950::TTTTT 110/81308)...

- Apr 26, 2021 (155)
70 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 332302389 (NC_000009.12:97370950::T 59050/81516)
Row 332302390 (NC_000009.12:97370950::TTTT 573/81280)
Row 332302391 (NC_000009.12:97370950::TTTTT 110/81308)...

- Apr 26, 2021 (155)
71 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 332302389 (NC_000009.12:97370950::T 59050/81516)
Row 332302390 (NC_000009.12:97370950::TTTT 573/81280)
Row 332302391 (NC_000009.12:97370950::TTTTT 110/81308)...

- Apr 26, 2021 (155)
72 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 332302389 (NC_000009.12:97370950::T 59050/81516)
Row 332302390 (NC_000009.12:97370950::TTTT 573/81280)
Row 332302391 (NC_000009.12:97370950::TTTTT 110/81308)...

- Apr 26, 2021 (155)
73 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 332302389 (NC_000009.12:97370950::T 59050/81516)
Row 332302390 (NC_000009.12:97370950::TTTT 573/81280)
Row 332302391 (NC_000009.12:97370950::TTTTT 110/81308)...

- Apr 26, 2021 (155)
74 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 332302389 (NC_000009.12:97370950::T 59050/81516)
Row 332302390 (NC_000009.12:97370950::TTTT 573/81280)
Row 332302391 (NC_000009.12:97370950::TTTTT 110/81308)...

- Apr 26, 2021 (155)
75 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 332302389 (NC_000009.12:97370950::T 59050/81516)
Row 332302390 (NC_000009.12:97370950::TTTT 573/81280)
Row 332302391 (NC_000009.12:97370950::TTTTT 110/81308)...

- Apr 26, 2021 (155)
76 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 332302389 (NC_000009.12:97370950::T 59050/81516)
Row 332302390 (NC_000009.12:97370950::TTTT 573/81280)
Row 332302391 (NC_000009.12:97370950::TTTTT 110/81308)...

- Apr 26, 2021 (155)
77 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 332302389 (NC_000009.12:97370950::T 59050/81516)
Row 332302390 (NC_000009.12:97370950::TTTT 573/81280)
Row 332302391 (NC_000009.12:97370950::TTTTT 110/81308)...

- Apr 26, 2021 (155)
78 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 332302389 (NC_000009.12:97370950::T 59050/81516)
Row 332302390 (NC_000009.12:97370950::TTTT 573/81280)
Row 332302391 (NC_000009.12:97370950::TTTTT 110/81308)...

- Apr 26, 2021 (155)
79 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 332302389 (NC_000009.12:97370950::T 59050/81516)
Row 332302390 (NC_000009.12:97370950::TTTT 573/81280)
Row 332302391 (NC_000009.12:97370950::TTTTT 110/81308)...

- Apr 26, 2021 (155)
80 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 332302389 (NC_000009.12:97370950::T 59050/81516)
Row 332302390 (NC_000009.12:97370950::TTTT 573/81280)
Row 332302391 (NC_000009.12:97370950::TTTTT 110/81308)...

- Apr 26, 2021 (155)
81 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 332302389 (NC_000009.12:97370950::T 59050/81516)
Row 332302390 (NC_000009.12:97370950::TTTT 573/81280)
Row 332302391 (NC_000009.12:97370950::TTTTT 110/81308)...

- Apr 26, 2021 (155)
82 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 332302389 (NC_000009.12:97370950::T 59050/81516)
Row 332302390 (NC_000009.12:97370950::TTTT 573/81280)
Row 332302391 (NC_000009.12:97370950::TTTTT 110/81308)...

- Apr 26, 2021 (155)
83 8.3KJPN

Submission ignored due to conflicting rows:
Row 52429960 (NC_000009.11:100133232::T 10298/16092)
Row 52429961 (NC_000009.11:100133232::TT 147/16092)
Row 52429962 (NC_000009.11:100133232::TTTTTTTTT 9/16092)...

- Apr 26, 2021 (155)
84 8.3KJPN

Submission ignored due to conflicting rows:
Row 52429960 (NC_000009.11:100133232::T 10298/16092)
Row 52429961 (NC_000009.11:100133232::TT 147/16092)
Row 52429962 (NC_000009.11:100133232::TTTTTTTTT 9/16092)...

- Apr 26, 2021 (155)
85 8.3KJPN

Submission ignored due to conflicting rows:
Row 52429960 (NC_000009.11:100133232::T 10298/16092)
Row 52429961 (NC_000009.11:100133232::TT 147/16092)
Row 52429962 (NC_000009.11:100133232::TTTTTTTTT 9/16092)...

- Apr 26, 2021 (155)
86 8.3KJPN

Submission ignored due to conflicting rows:
Row 52429960 (NC_000009.11:100133232::T 10298/16092)
Row 52429961 (NC_000009.11:100133232::TT 147/16092)
Row 52429962 (NC_000009.11:100133232::TTTTTTTTT 9/16092)...

- Apr 26, 2021 (155)
87 14KJPN

Submission ignored due to conflicting rows:
Row 72583762 (NC_000009.12:97370950::T 15718/25830)
Row 72583763 (NC_000009.12:97370950::TT 174/25830)
Row 72583764 (NC_000009.12:97370950::TTT 149/25830)...

- Oct 13, 2022 (156)
88 14KJPN

Submission ignored due to conflicting rows:
Row 72583762 (NC_000009.12:97370950::T 15718/25830)
Row 72583763 (NC_000009.12:97370950::TT 174/25830)
Row 72583764 (NC_000009.12:97370950::TTT 149/25830)...

- Oct 13, 2022 (156)
89 14KJPN

Submission ignored due to conflicting rows:
Row 72583762 (NC_000009.12:97370950::T 15718/25830)
Row 72583763 (NC_000009.12:97370950::TT 174/25830)
Row 72583764 (NC_000009.12:97370950::TTT 149/25830)...

- Oct 13, 2022 (156)
90 14KJPN

Submission ignored due to conflicting rows:
Row 72583762 (NC_000009.12:97370950::T 15718/25830)
Row 72583763 (NC_000009.12:97370950::TT 174/25830)
Row 72583764 (NC_000009.12:97370950::TTT 149/25830)...

- Oct 13, 2022 (156)
91 UK 10K study - Twins

Submission ignored due to conflicting rows:
Row 26108280 (NC_000009.11:100133232::TT 1673/3708)
Row 26108281 (NC_000009.11:100133232::TTT 1406/3708)

- Oct 12, 2018 (152)
92 UK 10K study - Twins

Submission ignored due to conflicting rows:
Row 26108280 (NC_000009.11:100133232::TT 1673/3708)
Row 26108281 (NC_000009.11:100133232::TTT 1406/3708)

- Oct 12, 2018 (152)
93 ALFA NC_000009.12 - 97370951 Apr 26, 2021 (155)
Help

History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).

Associated ID History Updated (Build)
rs67153823 Feb 26, 2009 (130)
rs67153824 Feb 26, 2009 (130)
rs67153825 Feb 26, 2009 (130)
rs67153826 Feb 26, 2009 (130)
rs71369508 May 11, 2012 (137)
rs71487323 May 11, 2012 (137)
rs143274459 Sep 17, 2011 (135)
rs149168671 Sep 17, 2011 (135)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss4206237652 NC_000009.12:97370950:TTTTTTTTTTTT…

NC_000009.12:97370950:TTTTTTTTTTTTT:

NC_000009.12:97370950:TTTTTTTTTTTT…

NC_000009.12:97370950:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT

(self)
4560565600 NC_000009.12:97370950:TTTTTTTTTTTT…

NC_000009.12:97370950:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT

NC_000009.12:97370950:TTTTTTTTTTTT…

NC_000009.12:97370950:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT

(self)
ss4206237651 NC_000009.12:97370950:TTTTTTTTTTTT: NC_000009.12:97370950:TTTTTTTTTTTT…

NC_000009.12:97370950:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT

(self)
4560565600 NC_000009.12:97370950:TTTTTTTTTTTT…

NC_000009.12:97370950:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT

NC_000009.12:97370950:TTTTTTTTTTTT…

NC_000009.12:97370950:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT

(self)
ss4206237650 NC_000009.12:97370950:TTTTTTTTTTT: NC_000009.12:97370950:TTTTTTTTTTTT…

NC_000009.12:97370950:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT

(self)
4560565600 NC_000009.12:97370950:TTTTTTTTTTTT…

NC_000009.12:97370950:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT

NC_000009.12:97370950:TTTTTTTTTTTT…

NC_000009.12:97370950:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT

(self)
4560565600 NC_000009.12:97370950:TTTTTTTTTTTT…

NC_000009.12:97370950:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT

NC_000009.12:97370950:TTTTTTTTTTTT…

NC_000009.12:97370950:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT

(self)
ss4206237649 NC_000009.12:97370950:TTTTTTTTT: NC_000009.12:97370950:TTTTTTTTTTTT…

NC_000009.12:97370950:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT

(self)
4560565600 NC_000009.12:97370950:TTTTTTTTTTTT…

NC_000009.12:97370950:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT

NC_000009.12:97370950:TTTTTTTTTTTT…

NC_000009.12:97370950:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT

(self)
ss4206237648 NC_000009.12:97370950:TTTTTTTT: NC_000009.12:97370950:TTTTTTTTTTTT…

NC_000009.12:97370950:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT

(self)
4560565600 NC_000009.12:97370950:TTTTTTTTTTTT…

NC_000009.12:97370950:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT

NC_000009.12:97370950:TTTTTTTTTTTT…

NC_000009.12:97370950:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT

(self)
ss4206237647 NC_000009.12:97370950:TTTTTTT: NC_000009.12:97370950:TTTTTTTTTTTT…

NC_000009.12:97370950:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT

(self)
4560565600 NC_000009.12:97370950:TTTTTTTTTTTT…

NC_000009.12:97370950:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT

NC_000009.12:97370950:TTTTTTTTTTTT…

NC_000009.12:97370950:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT

(self)
4560565600 NC_000009.12:97370950:TTTTTTTTTTTT…

NC_000009.12:97370950:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT

NC_000009.12:97370950:TTTTTTTTTTTT…

NC_000009.12:97370950:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT

(self)
ss4206237646 NC_000009.12:97370950:TTTTT: NC_000009.12:97370950:TTTTTTTTTTTT…

NC_000009.12:97370950:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT

(self)
4560565600 NC_000009.12:97370950:TTTTTTTTTTTT…

NC_000009.12:97370950:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT

NC_000009.12:97370950:TTTTTTTTTTTT…

NC_000009.12:97370950:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT

(self)
ss4206237645 NC_000009.12:97370950:TTTT: NC_000009.12:97370950:TTTTTTTTTTTT…

NC_000009.12:97370950:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT

(self)
4560565600 NC_000009.12:97370950:TTTTTTTTTTTT…

NC_000009.12:97370950:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT

NC_000009.12:97370950:TTTTTTTTTTTT…

NC_000009.12:97370950:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT

(self)
ss4206237644 NC_000009.12:97370950:TTT: NC_000009.12:97370950:TTTTTTTTTTTT…

NC_000009.12:97370950:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT

(self)
4560565600 NC_000009.12:97370950:TTTTTTTTTTTT…

NC_000009.12:97370950:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT

NC_000009.12:97370950:TTTTTTTTTTTT…

NC_000009.12:97370950:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT

(self)
ss4206237643 NC_000009.12:97370950:TT: NC_000009.12:97370950:TTTTTTTTTTTT…

NC_000009.12:97370950:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT

(self)
4560565600 NC_000009.12:97370950:TTTTTTTTTTTT…

NC_000009.12:97370950:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT

NC_000009.12:97370950:TTTTTTTTTTTT…

NC_000009.12:97370950:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT

(self)
ss4206237642, ss5281531797, ss5477460431, ss5738746661 NC_000009.12:97370950:T: NC_000009.12:97370950:TTTTTTTTTTTT…

NC_000009.12:97370950:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT

(self)
4560565600 NC_000009.12:97370950:TTTTTTTTTTTT…

NC_000009.12:97370950:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT

NC_000009.12:97370950:TTTTTTTTTTTT…

NC_000009.12:97370950:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT

(self)
ss295430131 NC_000009.10:99173054::T NC_000009.12:97370950:TTTTTTTTTTTT…

NC_000009.12:97370950:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss295430132 NC_000009.10:99173077::T NC_000009.12:97370950:TTTTTTTTTTTT…

NC_000009.12:97370950:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT

(self)
1290714, ss1577427448, ss3005289411, ss3791680969, ss3796562409, ss5194460653, ss5647898787, ss5829491627 NC_000009.11:100133232::T NC_000009.12:97370950:TTTTTTTTTTTT…

NC_000009.12:97370950:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss3065237410, ss4206237631, ss5477460429, ss5738746658, ss5856855947 NC_000009.12:97370950::T NC_000009.12:97370950:TTTTTTTTTTTT…

NC_000009.12:97370950:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT

(self)
4560565600 NC_000009.12:97370950:TTTTTTTTTTTT…

NC_000009.12:97370950:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT

NC_000009.12:97370950:TTTTTTTTTTTT…

NC_000009.12:97370950:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss95521945 NT_008470.19:29297784::T NC_000009.12:97370950:TTTTTTTTTTTT…

NC_000009.12:97370950:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss97764249 NT_008470.19:29297788::T NC_000009.12:97370950:TTTTTTTTTTTT…

NC_000009.12:97370950:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss1706487694, ss1706488069, ss3005289412, ss3831762968, ss5194460654, ss5829491629 NC_000009.11:100133232::TT NC_000009.12:97370950:TTTTTTTTTTTT…

NC_000009.12:97370950:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss5281531795, ss5477460430, ss5738746659 NC_000009.12:97370950::TT NC_000009.12:97370950:TTTTTTTTTTTT…

NC_000009.12:97370950:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
4560565600 NC_000009.12:97370950:TTTTTTTTTTTT…

NC_000009.12:97370950:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT

NC_000009.12:97370950:TTTTTTTTTTTT…

NC_000009.12:97370950:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss1706487695, ss1706488072, ss3005289413, ss5194460656, ss5829491628 NC_000009.11:100133232::TTT NC_000009.12:97370950:TTTTTTTTTTTT…

NC_000009.12:97370950:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss5281531794, ss5738746660 NC_000009.12:97370950::TTT NC_000009.12:97370950:TTTTTTTTTTTT…

NC_000009.12:97370950:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
4560565600 NC_000009.12:97370950:TTTTTTTTTTTT…

NC_000009.12:97370950:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT

NC_000009.12:97370950:TTTTTTTTTTTT…

NC_000009.12:97370950:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4206237632, ss5281531796 NC_000009.12:97370950::TTTT NC_000009.12:97370950:TTTTTTTTTTTT…

NC_000009.12:97370950:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
4560565600 NC_000009.12:97370950:TTTTTTTTTTTT…

NC_000009.12:97370950:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT

NC_000009.12:97370950:TTTTTTTTTTTT…

NC_000009.12:97370950:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4206237633 NC_000009.12:97370950::TTTTT NC_000009.12:97370950:TTTTTTTTTTTT…

NC_000009.12:97370950:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4206237634, ss5281531798 NC_000009.12:97370950::TTTTTT NC_000009.12:97370950:TTTTTTTTTTTT…

NC_000009.12:97370950:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
4560565600 NC_000009.12:97370950:TTTTTTTTTTTT…

NC_000009.12:97370950:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

NC_000009.12:97370950:TTTTTTTTTTTT…

NC_000009.12:97370950:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4206237635 NC_000009.12:97370950::TTTTTTT NC_000009.12:97370950:TTTTTTTTTTTT…

NC_000009.12:97370950:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
4560565600 NC_000009.12:97370950:TTTTTTTTTTTT…

NC_000009.12:97370950:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

NC_000009.12:97370950:TTTTTTTTTTTT…

NC_000009.12:97370950:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4206237636 NC_000009.12:97370950::TTTTTTTT NC_000009.12:97370950:TTTTTTTTTTTT…

NC_000009.12:97370950:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss5194460655 NC_000009.11:100133232::TTTTTTTTT NC_000009.12:97370950:TTTTTTTTTTTT…

NC_000009.12:97370950:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4206237637 NC_000009.12:97370950::TTTTTTTTT NC_000009.12:97370950:TTTTTTTTTTTT…

NC_000009.12:97370950:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
4560565600 NC_000009.12:97370950:TTTTTTTTTTTT…

NC_000009.12:97370950:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

NC_000009.12:97370950:TTTTTTTTTTTT…

NC_000009.12:97370950:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4206237638 NC_000009.12:97370950::TTTTTTTTTT NC_000009.12:97370950:TTTTTTTTTTTT…

NC_000009.12:97370950:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4206237639 NC_000009.12:97370950::TTTTTTTTTTT NC_000009.12:97370950:TTTTTTTTTTTT…

NC_000009.12:97370950:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4206237640 NC_000009.12:97370950::TTTTTTTTTTT…

NC_000009.12:97370950::TTTTTTTTTTTTTT

NC_000009.12:97370950:TTTTTTTTTTTT…

NC_000009.12:97370950:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
Removed from this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Destination RSIDs
ss3595782646 NC_000009.12:97370950:TTTTTTTTTT: NC_000009.12:97370950:TTTTTTTTTTTT…

NC_000009.12:97370950:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT

Help

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

No publications for rs67153822

Help

The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.

Genome context:
Select flank length:

Genomic regions, transcripts, and products
Top Help

NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.

Software version is: 2.0.1.post820+afb47a3d